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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Among authors: tuttelmann f. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.
Dellin M, Rohrbeck I, Asrani P, Schreiber JA, Ritter N, Glorius F, Wünsch B, Budde T, Temme L, Strünker T, Stallmeyer B, Tüttelmann F, Meuth SG, Spehr M, Matschke J, Steinbicker A, Gatsogiannis C, Stoll R, Strutz-Seebohm N, Seebohm G. Dellin M, et al. Among authors: tuttelmann f. Biol Chem. 2023 Feb 23;404(4):241-254. doi: 10.1515/hsz-2022-0247. Print 2023 Mar 28. Biol Chem. 2023. PMID: 36809224
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Forti G, Kliesch S, Krausz C. Chianese C, et al. Among authors: tuttelmann f. Hum Reprod. 2013 Nov;28(11):3155-60. doi: 10.1093/humrep/det322. Epub 2013 Sep 5. Hum Reprod. 2013. PMID: 24008148
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Krausz C, Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Kliesch S, Forti G. Krausz C, et al. Among authors: tuttelmann f. Hum Reprod. 2014 May;29(5):1114-5. doi: 10.1093/humrep/deu037. Epub 2014 Mar 14. Hum Reprod. 2014. PMID: 24634250 No abstract available.
The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C. Vockel M, et al. Among authors: tuttelmann f. Hum Genet. 2021 Jan;140(1):203-215. doi: 10.1007/s00439-019-02101-w. Epub 2019 Dec 24. Hum Genet. 2021. PMID: 31875237 Free PMC article. Review.
119 results