Genetics

Molecular Genetics 

Original Articles

 Latent class growth analysis identified different trajectories in cognitive development of extremely low birthweight children.

Haavisto A, Klenberg L, Tommiska V, Lano A, Mikkola K, Fellman V; Finnish ELBW Cohort Study Group (FinELBW).BMJ Paediatr Open. 2022 Apr;6(1):e001361. doi: 10.1136/bmjpo-2021-001361.PMID: 36053586 

 

SkewC: Identifying cells with skewed gene body coverage in single-cell RNA sequencing data.

Abugessaisa I, Hasegawa A, Noguchi S, Cardon M, Watanabe K, Takahashi M, Suzuki H, Katayama S, Kere J, Kasukawa T. iScience. 2022 Jan 15;25(2):103777. doi: 10.1016/j.isci.2022.103777. eCollection 2022 Feb 18. PMID: 35146392 Free PMC article.

 

Deep sequencing of short capped RNAs reveals novel families of noncoding RNAs.

de Hoon M, Bonetti A, Plessy C, Ando Y, Hon CC, Ishizu Y, Itoh M, Kato S, Lin D, Maekawa S, Murata M, Nishiyori H, Shin JW, Stolte J, Suzuki AM, Tagami M, Takahashi H, Thongjuea S, Forrest ARR, Hayashizaki Y, Kere J, Carninci P. Genome Res. 2022 Aug 12;32(9):1727-35. doi: 10.1101/gr.276647.122. Online ahead of print. PMID: 35961773 Free PMC article.

 

Circulating Levels of Anti-C1q and Anti-Factor H Autoantibodies and Their Targets in Normal Pregnancy and Preeclampsia.

Dijkstra DJ, Lokki AI, Gierman LM, Borggreven NV, van der Keur C, Eikmans M, Gelderman KA, Laivuori H; FINNPEC Core Investigator Group (including Kere J); Iversen AC, van der Hoorn MP, Trouw LA. Front Immunol. 2022 Mar 31;13:842451 doi: 10.3389/fimmu.2022.842451. eCollection 2022. PMID: 35432365 Free PMC article.

 

Discovery of 42 genome-wide significant loci associated with dyslexia.

Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium (including Kere J); Pourcain BS, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, Gruen JR, Olson RK, Willcutt EG, DeFries JC, Pennington BF, Smith SD, Wright MJ, Martin NG, Auton A, Bates TC, Fisher SE, Luciano M.Nat Genet. 2022 Nov;54(11):1621-1629. doi: 10.1038/s41588-022-01192-y. Epub 2022 Oct 20.PMID: 36266505 Free PMC article.

 

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.

Eising E, Mirza-Schreiber N, de Zeeuw EL, Wang CA, Truong DT, Allegrini AG, Shapland CY, Zhu G, Wigg KG, Gerritse ML, Molz B, Alagöz G, Gialluisi A, Abbondanza F, Rimfeld K, van Donkelaar M, Liao Z, Jansen PR, Andlauer TFM, Bates TC, Bernard M, Blokland K, Bonte M, Børglum AD, Bourgeron T, Brandeis D, Ceroni F, Csépe V, Dale PS, de Jong PF, DeFries JC, Démonet JF, Demontis D, Feng Y, Gordon SD, Guger SL, Hayiou-Thomas ME, Hernández-Cabrera JA, Hottenga JJ, Hulme C, Kere J, Kerr EN, Koomar T, Landerl K, Leonard GT, Lovett MW, Lyytinen H, Martin NG, Martinelli A, Maurer U, Michaelson JJ, Moll K, Monaco AP, Morgan AT, Nöthen MM, Pausova Z, Pennell CE, Pennington BF, Price KM, Rajagopal VM, Ramus F, Richer L, Simpson NH, Smith SD, Snowling MJ, Stein J, Strug LJ, Talcott JB, Tiemeier H, van der Schroeff MP, Verhoef E, Watkins KE, Wilkinson M, Wright MJ, Barr CL, Boomsma DI, Carreiras M, Franken MJ, Gruen JR, Luciano M, Müller-Myhsok B, Newbury DF, Olson RK, Paracchini S, Paus T, Plomin R, Reilly S, Schulte-Körne G, Tomblin JB, van Bergen E, Whitehouse AJO, Willcutt EG, St Pourcain B, Francks C, Fisher SE. Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2202764119. doi: 10.1073/pnas.2202764119. Epub 2022 Aug 23. PMID: 35998220 Free PMC article.

 

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.

Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6.PMID: 35445468 Free PMC article.

 

Human endometrial cell-type-specific RNA sequencing provides new insights into the embryo-endometrium interplay.

Koel M, Krjutškov K, Saare M, Samuel K, Lubenets D, Katayama S, Einarsdottir E, Vargas E, Sola-Leyva A, Lalitkumar PG, Gemzell-Danielsson K, Blesa D, Simon C, Lanner F, Kere J, Salumets A, Altmäe S. Hum Reprod Open. 2022 Oct 13;2022(4):hoac043. doi: 10.1093/hropen/hoac043. eCollection 2022.PMID: 36339249 Free PMC article.

 

Influence of FLG loss-of-function mutations in host-microbe interactions during atopic skin inflammation.

Oláh P, Szlávicz E, Kuchner M, Nemmer J, Zeeuwen P, Lefèvre-Utile A, Fyhrquist N, Prast-Nielsen S, Skoog T, Serra A, Rodríguez E, Raap U, Meller S, Gyulai R, Hupé P, Kere J, Levi-Schaffer F, Tsoka S, Alexander H, Nestle FO, Schröder JM, Weidinger S, van den Bogaard E, Soumelis V, Greco D, Barker J, Lauerma A, Ranki A, Andersson B, Alenius H, Homey B.

J Dermatol Sci. 2022 Jun;106(3):132-140. doi: 10.1016/j.jdermsci.2022.04.007. Epub 2022 Apr 15.

PMID: 35537882

 

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.

Price KM, Wigg KG, Eising E, Feng Y, Blokland K, Wilkinson M, Kerr EN, Guger SL; Quantitative Trait Working Group of the GenLang Consortium (including Kere J); Fisher SE, Lovett MW, Strug LJ, Barr CL.Transl Psychiatry. 2022 Nov 29;12(1):495. doi: 10.1038/s41398-022-02250-z.

PMID: 36446759 Free PMC article.

 

CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells.

Sokka J, Yoshihara M, Kvist J, Laiho L, Warren A, Stadelmann C, Jouhilahti EM, Kilpinen H, Balboa D, Katayama S, Kyttälä A, Kere J, Otonkoski T, Weltner J, Trokovic R. Stem Cell Reports. 2022 Feb 8;17(2):413-426. doi: 10.1016/j.stemcr.2021.12.017. Epub 2022 Jan 20.PMID: 35063129 Free PMC article.

 

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.

Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ. Clin Immunol. 2023 Jan;246:109181. doi: 10.1016/j.clim.2022.109181. Epub 2022 Nov 8.PMID: 36356849 

 

Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.

Tuovinen EA, Pöysti S, Hamdan F, Le KM, Keskitalo S, Turunen T, Minier L, Mamia N, Heiskanen K, Varjosalo M, Cerullo V, Kere J, Seppänen MRJ, Hänninen A, Grönholm J.J Clin Immunol. 2022 Oct 19. doi: 10.1007/s10875-022-01375-6. Online ahead of print.PMID: 36260239 

 

Viral infection-related gene upregulation in monocytes in children with signs of β-cell autoimmunity.

Valta M, Yoshihara M, Einarsdottir E, Pahkuri S, Ezer S, Katayama S, Knip M, Veijola R, Toppari J, Ilonen J, Kere J, Lempainen J. Pediatr Diabetes. 2022 Sep;23(6):703-713. doi: 10.1111/pedi.13346. Epub 2022 Apr 25.PMID: 35419920 Free PMC article.

 

Filaggrin mutations in relation to skin barrier and atopic dermatitis in early infancy.

Hoyer A, Rehbinder EM, Färdig M, Asad S, Lødrup Carlsen KC, Endre KMA, Granum B, Haugen G, Hedlin G, Monceyron Jonassen C, Katayama S, Konradsen JR, Landrø L, LeBlanc M, Olsson Mägi CA, Rudi K, Skjerven HO, Staff AC, Vettukattil R, Bradley M, Nordlund B, Söderhäll C.Br J Dermatol. 2022 Mar;186(3):544-552. doi: 10.1111/bjd.20831. Epub 2021 Dec 22.PMID: 34698386

 

DUX4 is a multifunctional factor priming human embryonic genome activation.

Vuoristo S, Bhagat S, Hydén-Granskog C, Yoshihara M, Gawriyski L, Jouhilahti EM, Ranga V, Tamirat M, Huhtala M, Kirjanov I, Nykänen S, Krjutškov K, Damdimopoulos A, Weltner J, Hashimoto K, Recher G, Ezer S, Paluoja P, Paloviita P, Takegami Y, Kanemaru A, Lundin K, Airenne TT, Otonkoski T, Tapanainen JS, Kawaji H, Murakawa Y, Bürglin TR, Varjosalo M, Johnson MS, Tuuri T, Katayama S, Kere J. iScience. 2022 Mar 22;25(4):104137. doi: 10.1016/j.isci.2022.104137. eCollection 2022 Apr 15.PMID: 35402882 Free PMC article.

 

Transient DUX4 expression in human embryonic stem cells induces blastomere-like expression program that is marked by SLC34A2.

Yoshihara M, Kirjanov I, Nykänen S, Sokka J, Weltner J, Lundin K, Gawriyski L, Jouhilahti EM, Varjosalo M, Tervaniemi MH, Otonkoski T, Trokovic R, Katayama S, Vuoristo S, Kere J.

Stem Cell Reports. 2022 Jul 12;17(7):1743-1756. doi: 10.1016/j.stemcr.2022.06.002. Epub 2022 Jun 30.PMID: 35777358 Free PMC article.

 

The continued absence of functional germline stem cells in adult ovaries.

Yoshihara M, Wagner M, Damdimopoulos A, Zhao C, Petropoulos S, Katayama S, Kere J, Lanner F, Damdimopoulou P. Stem Cells. 2022 Sep 25:sxac070. doi: 10.1093/stmcls/sxac070. Online ahead of print. PMID: 36153824

 

Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation.

Lundin K, Sepponen K, Väyrynen P, Liu X, Yohannes DA, Survila M, Ghimire B, Känsäkoski J, Katayama S, Partanen J, Vuoristo S, Paloviita P, Rahman N, Raivio T, Luiro K, Huhtaniemi I, Varjosalo M, Tuuri T, Tapanainen JS.Mol Hum Reprod. 2022 Apr 29;28(5):gaac012. doi: 10.1093/molehr/gaac012.PMID: 35471239

ATMP-classified, scalable, autologous cell spray for the treatment of skin wounds and assessment of its effects on wound healing clinically and on a molecular level.

Nuutila K, Katayama S, Laitinen A, Siltanen A, Patrikoski M, Valtonen J, Kankainen M, Kerkelä E, Kaartinen T, Juteau S, Korhonen M, Vuola J, Kankuri E.Burns. 2022 Sep 16:S0305-4179(22)00240-6. doi: 10.1016/j.burns.2022.09.006. Online ahead of print.PMID: 36195485

 

Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity.

Daura E, Tegelberg S, Hakala P, Lehesjoki AE, Joensuu T. Front Mol Neurosci. 2022 Nov 30;15:1069122. doi: 10.3389/fnmol.2022.1069122.

 

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium (including Lehesjoki AE). Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166.

 

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H.Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116

 

NCOR2 is a novel candidate gene for migraine-epilepsy phenotype.

Nuottamo ME, Häppölä P, Artto V, Hautakangas H, Pirinen M, Hiekkalinna T, Ellonen P, Lepistö M, Hämäläinen E; International Headache Genetics Consortium (IHGC), FinnGenConsortium; Siren A, Lehesjoki AE, Kallela M, Palotie A, Kaunisto MA, Wessman M.Cephalalgia. 2022 Jun;42(7):631-644. doi: 10.1177/03331024211068065.

 

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.

Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort; Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M.Nat Genet. 2022 Feb;54(2):152-160. doi: 10.1038/s41588-021-00990-0. Epub 2022 Feb 3.PMID: 35115687 Free PMC article.

 

Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families.

Häppölä P, Gormley P, Nuottamo ME, Artto V, Sumelahti ML, Nissilä M, Keski-Säntti P, Ilmavirta M, Kaunisto MA, Hämäläinen EI, Ripatti S, Pirinen M, Wessman M, Palotie A, Kallela M; International Headache Genetics Consortium (IHGC).Cephalalgia. 2022 Apr;42(4-5):345-356. doi: 10.1177/03331024211045651. Epub 2021 Oct 14.PMID: 34648375 Free PMC article.

 

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Anderson H, Davison S, Lytle KM, Honkanen L, Freyer J, Mathlin J, Kyöstilä K, Inman L, Louviere A, Chodroff Foran R, Forman OP, Lohi H, Donner J. PLoS Genet. 2022 Jun 16;18(6):e1009804. doi: 10.1371/journal.pgen.1009804. eCollection 2022 Jun.

 

Metabolic fingerprinting of dogs with idiopathic epilepsy receiving a ketogenic medium-chain triglyceride (MCT) oil.

Berk BA, Ottka C, Hong Law T, Packer RMA, Wessmann A, Bathen-Nöthen A, Jokinen TS, Knebel A, Tipold A, Lohi H, Volk HA. Front Vet Sci. 2022 Oct 6;9:935430. doi: 10.3389/fvets.2022.935430. eCollection 2022.

 

Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the RAPGEF5 Gene.

Belanger JM, Heinonen T, Famula TR, Mandigers PJJ, Leegwater PA, Hytönen MK, Lohi H, Oberbauer AM. Genes (Basel). 2022 Jun 23;13(7):1124. doi: 10.3390/genes13071124.

 

Metabolomic serum abnormalities in dogs with hepatopathies.

Imbery CA, Dieterle F, Ottka C, Weber C, Schlotterbeck G, Müller E, Lohi H, Giger U. Sci Rep. 2022 Mar 29;12(1):5329. doi: 10.1038/s41598-022-09056-5. PMID: 35351920

 

Metabolomic Abnormalities in Serum from Untreated and Treated Dogs with Hyper- and Hypoadrenocorticism.

Imbery CA, Dieterle F, Ottka C, Weber C, Schlotterbeck G, Müller E, Lohi H, Giger U. Metabolites. 2022 Apr 9;12(4):339. doi: 10.3390/metabo12040339.

 

Fearfulness associates with problematic behaviors and poor socialization in cats.

Mikkola S, Salonen M, Hakanen E, Lohi H. iScience. 2022 Oct 3;25(10):105265. doi: 10.1016/j.isci.2022.105265. eCollection 2022 Oct 21.

 

Aggressiveness, ADHD-like behaviour, and environment influence repetitive behaviour in dogs.

Sulkama S, Salonen M, Mikkola S, Hakanen E, Puurunen J, Araujo C, Lohi H. Sci Rep. 2022 Mar 24;12(1):3520. doi: 10.1038/s41598-022-07443-6. PMID: 35332179

 

Metabolic changes associated with two endocrine abnormalities in dogs: elevated fructosamine and low thyroxine.

Ottka C, Puurunen J, Müller E, Weber C, Klein R, Lohi H. Metabolomics. 2022 Jul 20;18(8):58. doi: 10.1007/s11306-022-01917-4.

 

Age, breed, sex and diet influence serum metabolite profiles of 2000 pet dogs.

Puurunen J, Ottka C, Salonen M, Niskanen JE, Lohi H. R Soc Open Sci. 2022 Feb 16;9(2):211642. doi: 10.1098/rsos.211642. eCollection 2022 Feb. PMID: 35223061

 

Personality traits associate with behavioral problems in pet dogs.

Salonen M, Mikkola S, Hakanen E, Sulkama S, Puurunen J, Lohi H. Transl Psychiatry. 2022 Feb 23;12(1):78. doi: 10.1038/s41398-022-01841-0.

 

Serum metabolomic profiles in dogs with chronic enteropathy.

Walker HK, Boag AM, Ottka C, Lohi H, Handel I, Gow AG, Mellanby RJ. J Vet Intern Med. 2022 Sep;36(5):1752-1759. doi: 10.1111/jvim.16419. Epub 2022 Jul 26.

 

Effects of a 2-year early childhood vitamin D3 intervention on tooth enamel and oral health at age 6-7 years.

Arponen H, Waltimo-Sirén J, Hauta-Alus HH, Tuhkiainen M, Sorsa T, Tervahartiala T, Andersson S, Mäkitie O, Holmlund-Suila E. Horm Res Paediatr. 2022 Dec 6. doi: 10.1159/000528536. Online ahead of print.PMID: 36473453

 

Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED.

Borchers J, Mäkitie O, Jääskeläinen J, Laakso S. Front Endocrinol (Lausanne). 2022 Jun 22;13:904507. doi: 10.3389/fendo.2022.904507. eCollection 2022.PMID: 35813662 

 

Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants.

Hauta-Alus HH, Holmlund-Suila EM, Valkama SM, Enlund-Cerullo M, Rosendahl J, Coghlan RF, Andersson S, Mäkitie O.J Bone Miner Res. 2022 Sep;37(9):1653-1664. doi: 10.1002/jbmr.4650. Epub 2022 Aug 4.PMID: 35838180 

 

Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.

Kukkola HL, Utriainen P, Huttunen P, Taskinen M, Mäkitie O, Vakkilainen S. Front Immunol. 2022 Sep 23;13:1004694. doi: 10.3389/fimmu.2022.1004694. eCollection 2022.PMID: 36211439 

 

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.

Laakso S, Holopainen E, Betterle C, Saari V, Vogt E, Schmitt MM, Winer KK, Kareva M, Sabbadin C, Husebye ES, Orlova E, Lionakis MS, Mäkitie O. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e528-e537. doi: 10.1210/clinem/dgab705.PMID: 34570215 

 

Long-term Outcome of Kidney Transplantation in 6 Patients With Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy.

Laakso S, Kaijansinkko H, Räisänen-Sokolowski A, Jahnukainen T, Kataja J, Mäkitie O, Helanterä I, Jalanko H. Transplantation. 2022 Apr 1;106(4):e244-e246. doi: 10.1097/TP.0000000000003993. PMID: 34856597 No abstract available.

 

Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis.

Loid P, Hauta-Alus H, Mäkitie O, Magnusson P, Mäkitie RE. Front Endocrinol (Lausanne). 2022 Sep 8;13:954730. doi: 10.3389/fendo.2022.954730. eCollection 2022.PMID: 36157448 

 

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome.

Loid P, Lipsanen-Nyman M, Ala-Mello S, Hannula-Jouppi K, Kere J, Mäkitie O, Muurinen M. Front Pediatr. 2022 Oct 4;10:969881. doi: 10.3389/fped.2022.969881. eCollection 2022. PMID: 36268036 

 

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Muurinen M, Taylan F, Tournis S, Eisfeldt J, Balanika A, Vastardis H, Ala-Mello S, Mäkitie O, Costantini A. JBMR Plus. 2022 Jul 5;6(8):e10660. doi: 10.1002/jbm4.10660. eCollection 2022 Aug.PMID: 35991531 

 

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.

Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O. Front Endocrinol (Lausanne). 2022 Mar 3;13:845889. doi: 10.3389/fendo.2022.845889. eCollection 2022.PMID: 35311234 

A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells. Pihlström S, Määttä K, Öhman T, Mäkitie RE, Aronen M, Varjosalo M, Mäkitie O, Pekkinen M. Front Mol Biosci. 2022 Nov 17;9:1032026. doi: 10.3389/fmolb.2022.1032026. eCollection 2022.PMID: 36465561 

 

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Mäkitie O. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19.PMID: 35748595 

 

Bone mineral density in very low birthweight adults-A sibling study.

Sandboge S, Kuula J, Björkqvist J, Hovi P, Mäkitie O, Kajantie E. Paediatr Perinat Epidemiol. 2022 Sep;36(5):665-672. doi: 10.1111/ppe.12876. Epub 2022 Mar 25.PMID: 35333415 

 

Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility.

Mäkitie RE, Mäkitie S, Mäyränpää MK, Pekkinen M. Bone Rep. 2022 Mar 26;16:101525. doi: 10.1016/j.bonr.2022.101525. eCollection 2022 Jun.PMID: 35535173.

 

Higher serum infliximab concentrations during induction predict short-term endoscopic response in patients with inflammatory bowel disease.

Eberl A, Qadri S, Saavalainen P, Sipponen T. Eur J Gastroenterol Hepatol. 2022 Nov 1;34(11):1125-1131. doi: 10.1097/MEG.0000000000002431. Epub 2022 Sep 10. PMID: 36170681

 

HLA allele-specific expression: Methods, disease associations, and relevance in hematopoietic stem cell transplantation.

Johansson T, Partanen J, Saavalainen P. Front Immunol. 2022 Sep 28;13:1007425. doi: 10.3389/fimmu.2022.1007425. eCollection 2022. PMID: 36248878

 

Prevalence, Cell Tropism, and Clinical Impact of Human Parvovirus Persistence in Adenomatous, Cancerous, Inflamed, and Healthy Intestinal Mucosa.

Xu M, Leskinen K, Gritti T, Groma V, Arola J, Lepistö A, Sipponen T, Saavalainen P, Söderlund-Venermo M. Front Microbiol. 2022 May 24;13:914181. doi: 10.3389/fmicb.2022.914181. eCollection 2022. PMID: 35685923

 

The Effect of Antibiotics on the Infant Gut Fungal Microbiota.

Ventin-Holmberg R, Saqib S, Korpela K, Nikkonen A, Peltola V, Salonen A, de Vos WM, Kolho KL.J Fungi (Basel). 2022 Mar 22;8(4):328. doi: 10.3390/jof8040328.PMID: 35448562 

 

Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria. 

Kawan S, Backlund MP, Immonen AT, Kivelä TT, Turunen JA.Br J Ophthalmol. 2022 Nov 16:bjophthalmol-2022-321825. doi: 10.1136/bjo-2022-321825. Online ahead of print. 

 

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. 

Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto AK, Avela K, Turunen JA. Acta Ophthalmol. 2022 Sep 21. doi: 10.1111/aos.15252. Online ahead of print. 

 

BAP1 germline variants in Finnish patients with malignant mesothelioma. 

Repo P, Staskiewicz A, Sutinen E, Rönty M, Tero T Kivelä, Myllärniemi M, Turunen JA.Lung Cancer. 2022 Jan 24;165:102-107. doi: 10.1016/j.lungcan.2022.01.017. Online ahead of print. 

 

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G.Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484.PMID: 34957489

 

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.

Johari M, Papadimas G, Papadopoulos C, Xirou S, Kanavaki A, Chrysanthou-Piterou M, Rusanen S, Savarese M, Hackman P, Udd B. Ann Clin Transl Neurol. 2022 Oct;9(10):1660-1667. doi: 10.1002/acn3.51665. Epub 2022 Sep 22. PMID: 36134701 

 

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Johari M, Vihola A, Palmio J, Jokela M, Jonson PH, Sarparanta J, Huovinen S, Savarese M, Hackman P, Udd B. J Neurol. 2022 Aug;269(8):4161-4173. doi: 10.1007/s00415-022-11029-7. Epub 2022 Mar 2. PMID: 35237874 

 

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

Onore ME, Savarese M, Picillo E, Passamano L, Nigro V, Politano L.Int J Mol Sci. 2022 Dec 14;23(24):15906. doi: 10.3390/ijms232415906.PMID: 36555543 

 

Scapuloperoneal syndrome with mitochondrial DNA deletion.

Pichette É, O'Ferrall E, Karamchandani J, Savarese M, Udd B, Massie R.J Neurol Sci. 2022 Mar 15;434:120164. doi: 10.1016/j.jns.2022.120164. Epub 2022 Jan 29. PMID: 35121208 No abstract available.

 

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group.J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. PMID: 35896379

 

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. PMID: 36233295

 

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. PMID: 36528760

 

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

Sagath L, Lehtokari VL, Wallgren-Pettersson C, Pelin K, Kiiski K. PLoS One. 2022 May 16;17(5):e0267793. doi: 10.1371/journal.pone.0267793. eCollection 2022. PMID: 35576196

 

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region.

Sagath L, Lehtokari VL, Pelin K, Kiiski K. Genes (Basel). 2022 May 19;13(5):905. doi: 10.3390/genes13050905. PMID: 35627290

 

Respiratory muscle function in patients with nemaline myopathy.

van Kleef ESB, van Doorn JLM, Gaytant MA, de Weerd W, Vosse BAH, Wallgren-Pettersson C, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J. Neuromuscul Disord. 2022 Aug;32(8):654-663. doi: 10.1016/j.nmd.2022.06.009. Epub 2022 Jun 22. PMID: 35803773

 

Total fecal IgA levels increase and natural IgM antibodies decrease after gastric bypass surgery.

Istomin N, Härma MA, Akhi R, Nissinen AE, Savolainen MJ, Adeshara K, Lehto M, Groop PH, Koivukangas V, Hukkanen J, Hörkkö S. APMIS. 2022 Nov;130(11):637-646. doi: 10.1111/apm.13268. Epub 2022 Aug 26. PMID: 35959517.

 

Incidence rate patterns, cumulative incidence, and time trends for moderate and severe albuminuria in individuals diagnosed with type 1 diabetes aged 0-14 years: a population-based retrospective cohort study.

Jansson Sigfrids F, Groop PH, Harjutsalo V.Lancet Diabetes Endocrinol. 2022 Jul;10(7):489-498. doi: 10.1016/S2213-8587(22)00099-7. Epub 2022 Apr 27. PMID: 35489369

 

 

Soluble RAGE Prevents Type 1 Diabetes Expanding Functional Regulatory T Cells.

Leung SS, Borg DJ, McCarthy DA, Boursalian TE, Cracraft J, Zhuang A, Fotheringham AK, Flemming N, Watkins T, Miles JJ, Groop PH, Scheijen JL, Schalkwijk CG, Steptoe RJ, Radford KJ, Knip M, Forbes JM. Diabetes. 2022 Sep 1;71(9):1994-2008. doi: 10.2337/db22-0177.PMID: 35713929

 

Urinary Proteomics Identifies Cathepsin D as a Biomarker of Rapid eGFR Decline in Type 1 Diabetes.

Limonte CP, Valo E, Drel V, Natarajan L, Darshi M, Forsblom C, Henderson CM, Hoofnagle AN, Ju W, Kretzler M, Montemayor D, Nair V, Nelson RG, O'Toole JF, Toto RD, Rosas SE, Ruzinski J, Sandholm N, Schmidt IM, Vaisar T, Waikar SS, Zhang J, Rossing P, Ahluwalia TS, Groop PH, Pennathur S, Snell-Bergeon JK, Costacou T, Orchard TJ, Sharma K, de Boer IH; Kidney Precision Medicine Project. Diabetes Care. 2022 Jun 2;45(6):1416-1427. doi: 10.2337/dc21-2204.PMID: 35377940

Genetic Risk Score Enhances Coronary Artery Disease Risk Prediction in Individuals With Type 1 Diabetes.

Lithovius R, Antikainen AA, Mutter S, Valo E, Forsblom C, Harjutsalo V, Sandholm N, Groop PH. Diabetes Care. 2022 Mar 1;45(3):734-741. doi: 10.2337/dc21-0974. PMID: 35019974

 

Markers of early vascular aging are not associated with cryptogenic ischemic stroke in the young: A case-control study.

Martinez-Majander N, Gordin D, Joutsi-Korhonen L, Salopuro T, Adeshara K, Sibolt G, Curtze S, Pirinen J, Liebkind R, Soinne L, Sairanen T, Suihko S, Lehto M, Sinisalo J, Groop PH, Tatlisumak T, Putaala J. J Stroke Cerebrovasc Dis. 2022 Sep;31(9):106647. doi: 10.1016/j.jstrokecerebrovasdis.2022.106647. Epub 2022 Jul 15. PMID: 35849915.

 

Waist-Height Ratio and the Risk of Severe Diabetic Eye Disease in Type 1 Diabetes: A 15-Year Cohort Study.

Parente EB, Harjutsalo V, Forsblom C,Groop PH. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e653-e662. doi: 10.1210/clinem/dgab671. PMID: 34508598.

Antibiotic treatment and supplemental hemin availability affect the volatile organic compounds produced by P. gingivalis in vitro.

Roslund K, Uosukainen M, Järvik K, Hartonen K, Lehto M, Pussinen P, Groop PH, Metsälä M. Sci Rep. 2022 Dec 29;12(1):22534. doi: 10.1038/s41598-022-26497-0. PMID: 36581644.

 

Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.

Sandholm N, Cole JB, Nair V, Sheng X, Liu H, Ahlqvist E, van Zuydam N, Dahlström EH, Fermin D, Smyth LJ, Salem RM, Forsblom C, Valo E, Harjutsalo V, Brennan EP, McKay GJ, Andrews D, Doyle R, Looker HC, Nelson RG, Palmer C, McKnight AJ, Godson C, Maxwell AP, Groop L, McCarthy MI, Kretzler M, Susztak K, Hirschhorn JN, Florez JC, Groop PH; GENIE Consortium.Diabetologia. 2022 Sep;65(9):1495-1509. doi: 10.1007/s00125-022-05735-0. Epub 2022 Jun 28.PMID: 35763030.

 

Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

Sandholm N, Hotakainen R, Haukka JK, Jansson Sigfrids F, Dahlström EH, Antikainen AA, Valo E, Syreeni A, Kilpeläinen E, Kytölä A, Palotie A, Harjutsalo V, Forsblom C, Groop PH; FinnDiane Study Group. Genome Med. 2022 Nov 23;14(1):132. doi: 10.1186/s13073-022-01135-6. PMID: 36419110.

 

Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.

Smyth LJ, Dahlström EH, Syreeni A, Kerr K, Kilner J, Doyle R, Brennan E, Nair V, Fermin D, Nelson RG, Looker HC, Wooster C, Andrews D, Anderson K, McKay GJ, Cole JB, Salem RM, Conlon PJ, Kretzler M, Hirschhorn JN, Sadlier D, Godson C, Florez JC; GENIE consortium; Forsblom C, Maxwell AP, Groop PH, Sandholm N, McKnight AJ. Nat Commun. 2022 Dec 22;13(1):7891. doi: 10.1038/s41467-022-34963-6.P MID: 36550108.

 

Telomeres do not always shorten over time in individuals with type 1 diabetes.

Syreeni A, Carroll LM, Mutter S, Januszewski AS, Forsblom C, Lehto M, Groop PH, Jenkins AJ; FinnDiane Study Group. Diabetes Res Clin Pract. 2022 Jun;188:109926. doi: 10.1016/j.diabres.2022.109926. Epub 2022 May 14. PMID: 35580703

 

Haptoglobin Genotype Does Not Confer a Risk of Stroke in Type 1 Diabetes.

Syreeni A, Dahlström EH, Hägg-Holmberg S, Forsblom C, Eriksson MI, Harjutsalo V, Putaala J, Groop PH, Sandholm N, Thorn LM. Diabetes. 2022 Dec 1;71(12):2728-2738. doi: 10.2337/db22-0327. PMID: 36409784

 

Effects of Butyrate Supplementation on Inflammation and Kidney Parameters in Type 1 Diabetes: A Randomized, Double-Blind, Placebo-Controlled Trial.

Tougaard NH, Frimodt-Møller M, Salmenkari H, Stougaard EB, Zawadzki AD, Mattila IM, Hansen TW, Legido-Quigley C, Hörkkö S, Forsblom C, Groop PH, Lehto M, Rossing P. J Clin Med. 2022 Jun 21;11(13):3573. doi: 10.3390/jcm11133573. PMID: 35806857.

 

Effect of serum sample storage temperature on metabolomic and proteomic biomarkers.

Valo E, Colombo M, Sandholm N, McGurnaghan SJ, Blackbourn LAK, Dunger DB, McKeigue PM, Forsblom C, Groop PH, Colhoun HM, Turner C, Dalton RN. Sci Rep. 2022 Mar 17;12(1):4571. doi: 10.1038/s41598-022-08429-0.PMID: 35301383.

 

Plasma glycation adducts and various RAGE isoforms are intricately associated with oxidative stress and inflammatory markers in type 2 diabetes patients with vascular complications.

Adeshara KA, Bangar N, Diwan AG, Tupe RS. Diabetes Metab Syndr. 2022 Mar;16(3):102441. doi: 10.1016/j.dsx.2022.102441. Epub 2022 Feb 24. PMID: 35247657

 

Volatile composition of the morning breath.

Roslund K, Lehto M, Pussinen P, Metsälä M. J Breath Res. 2022 Sep 19;16(4). doi: 10.1088/1752-7163/ac8ec8.PMID: 36055216

 

Fecal microbiota in congenital chloride diarrhea and inflammatory bowel disease.

Wedenoja S, Saarikivi A, Mälkönen J, Leskinen S, Lehto M, Adeshara K, Tuokkola J, Nikkonen A, Merras-Salmio L, Höyhtyä M, Hörkkö S, Haaramo A, Salonen A, de Vos WM, Korpela K, Kolho KL. PLoS One. 2022 Jun 9;17(6):e0269561. doi: 10.1371/journal.pone.0269561. eCollection 2022. PMID: 35679312 

 

Thymocyte regulatory variant alters transcription factor binding and protects from type 1 diabetes in infants.

Sandholm N, Rubio García A, Pekalski ML, Inshaw JRJ, Cutler AJ, Todd JA. Sci Rep. 2022 Aug 19;12(1):14137. doi: 10.1038/s41598-022-18296-4. PMID: 35986039.

 

Islet Gene View-a tool to facilitate islet research.

Asplund O, Storm P, Chandra V, Hatem G, Ottosson-Laakso E, Mansour-Aly D, Krus U, Ibrahim H, Ahlqvist E, Tuomi T, Renström E, Korsgren O, Wierup N, Ibberson M, Solimena M, Marchetti P, Wollheim C, Artner I, Mulder H, Hansson O, Otonkoski T, Groop L, Prasad RB. Life Sci Alliance. 2022 Aug 10;5(12):e202201376. doi: 10.26508/lsa.202201376.

 

New insights into the genetic etiology of Alzheimer's disease and related dementias.

Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JM, García-González P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Pérez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleó A, Longstreth W Jr, Lopez O, de Munain AL, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AM, Rodríguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Sáez ME, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tárraga L, Tesí N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjærg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Broeckhoven CV, Vance J, Vardarajan BN, van der Lugt A, Dongen JV, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal JS, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, Wang LS, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M; EADB; GR@ACE; DEGESCO; EADI; GERAD; Demgene; FinnGen (including Tuomi T.); ADGC; CHARGE; Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, Ikram MA, de Mendonça A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze JF, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A, Lambert JC. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4.

 

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Harsunen M, Kettunen JLT, Härkönen T, Dwivedi O, Lehtovirta M, Vähäsalo P, Veijola R, Ilonen J, Miettinen PJ, Knip M, Tuomi T. Diabetologia. 2022 Nov 23. doi: 10.1007/s00125-022-05834-y. Online ahead of print.

 

An insulin hypersecretion phenotype precedes pancreatic β cell failure in MODY3 patient-specific cells.

Hermann FM, Kjærgaard MF, Tian C, Tiemann U, Jackson A, Olsen LR, Kraft M, Carlsson PO, Elfving IM, Kettunen JLT, Tuomi T, Novak I, Semb H. Cell Stem Cell. 2023 Jan 5;30(1):38-51.e8. doi: 10.1016/j.stem.2022.12.001. Epub 2022 Dec 22

 

Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Pervjakova N, Moen GH, Borges MC, Ferreira T, Cook JP, Allard C, Beaumont RN, Canouil M, Hatem G, Heiskala A, Joensuu A, Karhunen V, Kwak SH, Lin FTJ, Liu J, Rifas-Shiman S, Tam CH, Tam WH, Thorleifsson G, Andrew T, Auvinen J, Bhowmik B, Bonnefond A, Delahaye F, Demirkan A, Froguel P, Haller-Kikkatalo K, Hardardottir H, Hummel S, Hussain A, Kajantie E, Keikkala E, Khamis A, Lahti J, Lekva T, Mustaniemi S, Sommer C, Tagoma A, Tzala E, Uibo R, Vääräsmäki M, Villa PM, Birkeland KI, Bouchard L, Duijn CM, Finer S, Groop L, Hämäläinen E, Hayes GM, Hitman GA, Jang HC, Järvelin MR, Jenum AK, Laivuori H, Ma RC, Melander O, Oken E, Park KS, Perron P, Prasad RB, Qvigstad E, Sebert S, Stefansson K, Steinthorsdottir V, Tuomi T, Hivert MF, Franks PW, McCarthy MI, Lindgren CM, Freathy RM, Lawlor DA, Morris AP, Mägi R. Hum Mol Genet. 2022 Sep 29;31(19):3377-3391. doi: 10.1093/hmg/ddac050.

 

Subgroups of patients with young-onset type 2 diabetes in India reveal insulin deficiency as a major driver.

Prasad RB, Asplund O, Shukla SR, Wagh R, Kunte P, Bhat D, Parekh M, Shah M, Phatak S, Käräjämäki A, Datta A, Kakati S, Tuomi T, Saboo B, Ahlqvist E, Groop L, Yajnik CS. Diabetologia. 2022 Jan;65(1):65-78. doi: 10.1007/s00125-021-05543-y.

 

Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen.

Rodosthenous RS, Niemi MEK, Kallio L, Perala M, Terho P, Knopp T, Punkka E, Makkonen EM, Nurmi P, Makela J, Wihuri P, Hautalahti M, Moffatt C, Martini P, Germine L, Makela VA, Karhunen OA, Lahti J, Hiekkalinna TS, Jyrhama T, Shen HY, Runz H, Palotie A, Perola M, Ganna A; FinnGen (including Tuomi T.). BMJ Open. 2022 Oct 5;12(10):e064695. doi: 10.1136/bmjopen-2022-064695.

 

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.

Ruotsalainen SE, Surakka I, Mars N, Karjalainen J, Kurki M, Kanai M, Krebs K, Graham S, Mishra PP, Mishra BH, Sinisalo J, Palta P, Lehtimäki T, Raitakari O; Estonian Biobank Research Team; Milani L; Biobank Japan Project; Okada Y; FinnGen (including Tuomi T.); Palotie A, Widen E, Daly MJ, Ripatti S. Commun Biol. 2022 Aug 17;5(1):802. doi: 10.1038/s42003-022-03552-0.

 

How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study.Widén E, Junna N, Ruotsalainen S, Surakka I, Mars N, Ripatti P, Partanen JJ, Aro J, Mustonen P, Tuomi T, Palotie A, Salomaa V, Kaprio J, Partanen J, Hotakainen K, Pöllänen P, Ripatti S. Circ Genom Precis Med. 2022 Apr;15(2): e003459. doi: 10.1161/CIRCGEN.121.003459. Epub 2022 Feb 7.

 

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes.

Tamlander M, Mars N, Pirinen M; FinnGen (including Tuomi T.); Widén E, Ripatti S. Commun Biol. 2022 Feb 23;5(1):158. doi: 10.1038/s42003-021-02996-0.

 

Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Wei Y, Zhan Y, Löfvenborg JE, Tuomi T, Carlsson S. Diabetologia. 2022 Sep;65(9):1510-1518. doi: 10.1007/s00125-022-05725-2. Epub 2022 May 23.

 

A saturated map of common genetic variants associated with human height.

Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, Hebbar P, Hindy G, Ho YA, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huffman JE, Hung YJ, Huo S, Hwang MY, Iha H, Ikeda DD, Isono M, Jackson AU, Jäger S, Jansen IE, Johansson I, Jonas JB, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Leonard HL, Li SA, Li X, Li X, Liang J, Lin H, Lin SY, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, Mavarani L, McDaid AF, Meidtner K, Melendez TL, Mercader JM, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Morgan A, Mucha S, Munz M, Nakatochi M, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Christofidou P, Pärna K, Pauper M, Petersen ERB, Petersen LV, Pitkänen N, Polašek O, Poveda A, Preuss MH, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Saxena R, Scholz M, Sendamarai A, Shen B, Shi J, Shin JH, Sidore C, Sitlani CM, Slieker RC, Smit RAJ, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Tallapragada DSP, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang L, Wang Z, Warren HR, Bin Wei W, Wickremasinghe AR, Wielscher M, Wiggins KL, Winsvold BS, Wong A, Wu Y, Wuttke M, Xia R, Xie T, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Bennett DA, Bergler T, Bharadwaj D, Biino G, Bisgaard H, Boerwinkle E, Böger CA, Bønnelykke K, Boomsma DI, Børglum AD, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Chen YI, Chen Z, Cheng CY, Christophersen IE, Ciullo M, Cole JW, Collins FS, Cooper RS, Cruz M, Cucca F, Cupples LA, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Groot LCPGM, De Jager PL, de Kleijn DPV, Janaka de Silva H, Dedoussis GV, den Hollander AI, Du S, Easton DF, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gasparini P, Gieger C, Girotto G, Goddard ME, Golightly YM, Gonzalez-Villalpando C, Gordon-Larsen P, Grallert H, Grant SFA, Grarup N, Griffiths L, Gudnason V, Haiman C, Hakonarson H, Hansen T, Hartman CA, Hattersley AT, Hayward C, Heckbert SR, Heng CK, Hengstenberg C, Hewitt AW, Hishigaki H, Hoyng CB, Huang PL, Huang W, Hunt SC, Hveem K, Hyppönen E, Iacono WG, Ichihara S, Ikram MA, Isasi CR, Jackson RD, Jarvelin MR, Jin ZB, Jöckel KH, Joshi PK, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kang KD, Kaprio J, Kardia SLR, Karpe F, Kato N, Kee F, Kessler T, Khera AV, Khor CC, Kiemeney LALM, Kim BJ, Kim EK, Kim HL, Kirchhof P, Kivimaki M, Koh WP, Koistinen HA, Kolovou GD, Kooner JS, Kooperberg C, Köttgen A, Kovacs P, Kraaijeveld A, Kraft P, Krauss RM, Kumari M, Kutalik Z, Laakso M, Lange LA, Langenberg C, Launer LJ, Le Marchand L, Lee H, Lee NR, Lehtimäki T, Li H, Li L, Lieb W, Lin X, Lind L, Linneberg A, Liu CT, Liu J, Loeffler M, London B, Lubitz SA, Lye SJ, Mackey DA, Mägi R, Magnusson PKE, Marcus GM, Vidal PM, Martin NG, März W, Matsuda F, McGarrah RW, McGue M, McKnight AJ, Medland SE, Mellström D, Metspalu A, Mitchell BD, Mitchell P, Mook-Kanamori DO, Morris AD, Mucci LA, Munroe PB, Nalls MA, Nazarian S, Nelson AE, Neville MJ, Newton-Cheh C, Nielsen CS, Nöthen MM, Ohlsson C, Oldehinkel AJ, Orozco L, Pahkala K, Pajukanta P, Palmer CNA, Parra EJ, Pattaro C, Pedersen O, Pennell CE, Penninx BWJH, Perusse L, Peters A, Peyser PA, Porteous DJ, Posthuma D, Power C, Pramstaller PP, Province MA, Qi Q, Qu J, Rader DJ, Raitakari OT, Ralhan S, Rallidis LS, Rao DC, Redline S, Reilly DF, Reiner AP, Rhee SY, Ridker PM, Rienstra M, Ripatti S, Ritchie MD, Roden DM, Rosendaal FR, Rotter JI, Rudan I, Rutters F, Sabanayagam C, Saleheen D, Salomaa V, Samani NJ, Sanghera DK, Sattar N, Schmidt B, Schmidt H, Schmidt R, Schulze MB, Schunkert H, Scott LJ, Scott RJ, Sever P, Shiroma EJ, Shoemaker MB, Shu XO, Simonsick EM, Sims M, Singh JR, Singleton AB, Sinner MF, Smith JG, Snieder H, Spector TD, Stampfer MJ, Stark KJ, Strachan DP, 't Hart LM, Tabara Y, Tang H, Tardif JC, Thanaraj TA, Timpson NJ, Tönjes A, Tremblay A, Tuomi T, Tuomilehto J, Tusié-Luna MT, Uitterlinden AG, van Dam RM, van der Harst P, Van der Velde N, van Duijn CM, van Schoor NM, Vitart V, Völker U, Vollenweider P, Völzke H, Wacher-Rodarte NH, Walker M, Wang YX, Wareham NJ, Watanabe RM, Watkins H, Weir DR, Werge TM, Widen E, Wilkens LR, Willemsen G, Willett WC, Wilson JF, Wong TY, Woo JT, Wright AF, Wu JY, Xu H, Yajnik CS, Yokota M, Yuan JM, Zeggini E, Zemel BS, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Zwart JA; 23andMe Research Team; VA Million Veteran Program; DiscovEHR (DiscovEHR and MyCode Community Health Initiative); eMERGE (Electronic Medical Records and Genomics Network); Lifelines Cohort Study; PRACTICAL Consortium; Understanding Society Scientific Group; Chasman DI, Cho YS, Heid IM, McCarthy MI, Ng MCY, O'Donnell CJ, Rivadeneira F, Thorsteinsdottir U, Sun YV, Tai ES, Boehnke M, Deloukas P, Justice AE, Lindgren CM, Loos RJF, Mohlke KL, North KE, Stefansson K, Walters RG, Winkler TW, Young KL, Loh PR, Yang J, Esko T, Assimes TL, Auton A, Abecasis GR, Willer CJ, Locke AE, Berndt SI, Lettre G, Frayling TM, Okada Y, Wood AR, Visscher PM, Hirschhorn JN. Nature. 2022 Oct;610(7933):704-712. doi: 10.1038/s41586-022-05275-y. Epub 2022 Oct 12.

 

Other Publications

 

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. PMID: 36285626. Review.

 

Idiopathic scoliosis: a systematic review and meta-analysis of heritability.

Cheng T, Einarsdottir E, Kere J, Gerdhem P. EFORT Open Rev. 2022 May 31;7(6):414-421. doi: 10.1530/EOR-22-0026.PMID: 35638601 Free PMC article. Review.

 

Reply: revisiting claims of the continued absence of functional germline stem cells in adult ovaries.

Yoshihara M, Wagner M, Damdimopoulos A, Zhao C, Petropoulos S, Katayama S, Kere J, Lanner F, Damdimopoulou P. Stem Cells. 2022 Dec 6:sxac084. doi: 10.1093/stmcls/sxac084. Online ahead of print.PMID: 36472571.

 

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O.J Bone Miner Res. 2022 Sep;37(9):1623-1641. doi: 10.1002/jbmr.4668. Epub 2022 Sep 11. PMID: 35949115  Review.

 

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.

Bergen DJM, Maurizi A, Formosa MM, McDonald GLK, El-Gazzar A, Hassan N, Brandi ML, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G. J Bone Miner Res. 2022 Sep 26. doi: 10.1002/jbmr.4715. Online ahead of print. PMID: 36161343 Review.

 

Letter to the editor: Keratitis fugax hereditaria is an eye-specific cryopyrin-associated periodic syndrome. 

Turunen JA, Immonen AT, Kivelä TT. Autoimmun Rev. 2022 Jul;21(7):103054. doi: 10.1016/j.autrev.2022.103054. Epub 2022 Jan 26.

 

Update on the Corneal Dystrophies-Genetic Testing and Therapy. 

Weiss JS, Willoughby CE, Abad-Morales V, Turunen JA, Lisch W. Cornea. 2022 Nov 1;41(11):1337-1344. doi: 10.1097/ICO.0000000000002857. Epub 2022 Jul 4. Review

 

Use of animal models to understand titin physiology and pathology.

Marcello M, Cetrangolo V, Savarese M, Udd B. J Cell Mol Med. 2022 Oct;26(20):5103-5112. doi: 10.1111/jcmm.17533. Epub 2022 Sep 6. PMID: 36065969 Review

Mutation update for the ACTN2 gene.

Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. PMID: 36116040 Review.

 

Telomeres in clinical diabetes research - Moving towards precision medicine in diabetes care?

Jenkins AJ, Syreeni A, Mutter S, Januszewski AS, Groop PH. Diabetes Res Clin Pract. 2022 Dec;194:110178. doi: 10.1016/j.diabres.2022.110178. Epub 2022 Nov 24. PMID: 36427630

 

Response to Comment on Parente et al. The Relationship Between Body Fat Distribution and Nonalcoholic Fatty Liver in Adults With Type 1 Diabetes. Diabetes Care 2021;44:1706-1713.

Parente EB, Dahlström EH, Harjutsalo V, Inkeri J, Mutter S, Forsblom C, Sandholm N, Gordin D, Groop PH. Diabetes Care. 2022 Jan 1;45(1):e8-e9. doi: 10.2337/dci21-0045. PMID: 34986261 

 

Exercise and nutrition in type 1 diabetes: Insights from the FinnDiane cohort.

Pongrac Barlovic D, Harjutsalo V, Groop PH. Front Endocrinol (Lausanne). 2022 Dec 22;13:1064185. doi: 10.3389/fendo.2022.1064185. eCollection 2022.PMID: 36619534. Review

Tyypin 1 diabetes ja muut autoimmuunisairaudet.
Mäkimattila S,Harjutsalo V. Duodecim 2021; 137(22): 2419–2425 Review
https://www.duodecimlehti.fi/lehti/2021/22/duo16528?keyword=Harjutsalo

 

Periodontitis and cardiometabolic disorders: The role of lipopolysaccharide and endotoxemia.

Pussinen PJ, Kopra E, Pietiäinen M, Lehto M, Zaric S, Paju S, Salminen A. Periodontol 2000. 2022 Jun;89(1):19-40. doi: 10.1111/prd.12433. Epub 2022 Mar 4. PMID: 35244966. Review

 

Clinical Use of Insulin Glargine 300 U/mL in Adults with Type 2 Diabetes: Hypothetical Case Studies.

Harris SB, Parente EB, Karalliedde J. Diabetes Ther. 2022 May;13(5):913-930. doi: 10.1007/s13300-022-01247-7. Epub 2022 Mar 30. PMID: 35355207. Review