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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.
Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F. Wyrwoll MJ, et al. Among authors: stallmeyer b. Hum Reprod. 2021 Dec 27;37(1):178-189. doi: 10.1093/humrep/deab230. Hum Reprod. 2021. PMID: 34755185
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Among authors: stallmeyer b. Eur Urol. 2023 May;83(5):452-462. doi: 10.1016/j.eururo.2022.05.011. Epub 2022 Jun 8. Eur Urol. 2023. PMID: 35690514
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium; D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW. Wyrwoll MJ, et al. Among authors: stallmeyer b. Am J Hum Genet. 2022 Oct 6;109(10):1850-1866. doi: 10.1016/j.ajhg.2022.09.002. Epub 2022 Sep 22. Am J Hum Genet. 2022. PMID: 36150389 Free PMC article.
Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking.
Anneken L, Baumann S, Vigneault P, Biliczki P, Friedrich C, Xiao L, Girmatsion Z, Takac I, Brandes RP, Kissler S, Wiegratz I, Zumhagen S, Stallmeyer B, Hohnloser SH, Klingenheben T, Schulze-Bahr E, Nattel S, Ehrlich JR. Anneken L, et al. Among authors: stallmeyer b. Eur Heart J. 2016 Feb 14;37(7):640-50. doi: 10.1093/eurheartj/ehv371. Epub 2015 Aug 12. Eur Heart J. 2016. PMID: 26271031 Free PMC article.
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA. van Lint FHM, et al. Among authors: stallmeyer b. Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6. Circ Genom Precis Med. 2019. PMID: 31386562 Free article.
POPDC2 a novel susceptibility gene for conduction disorders.
Rinné S, Ortiz-Bonnin B, Stallmeyer B, Kiper AK, Fortmüller L, Schindler RFR, Herbort-Brand U, Kabir NS, Dittmann S, Friedrich C, Zumhagen S, Gualandi F, Selvatici R, Rapezzi C, Arbustini E, Ferlini A, Fabritz L, Schulze-Bahr E, Brand T, Decher N. Rinné S, et al. Among authors: stallmeyer b. J Mol Cell Cardiol. 2020 Aug;145:74-83. doi: 10.1016/j.yjmcc.2020.06.005. Epub 2020 Jun 11. J Mol Cell Cardiol. 2020. PMID: 32535041
70 results