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Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine.
Tüttelmann F, Ruckert C, Röpke A. Tüttelmann F, et al. Among authors: ropke a. Med Genet. 2018;30(1):12-20. doi: 10.1007/s11825-018-0181-7. Epub 2018 Feb 26. Med Genet. 2018. PMID: 29527098 Free PMC article. Review.
These tests establish a causal genetic diagnosis in about 4% of unselected men in infertile couples and 20% of azoospermic men. ...Still, a large number of genes have been proposed to be associated with male infertility by, for example, knock-out mouse models. ...
These tests establish a causal genetic diagnosis in about 4% of unselected men in infertile couples and 20% of azoospermic men. ...St …
Characterization of endometrial mesenchymal stem-like cells obtained by endometrial biopsy during routine diagnostics.
Schüring AN, Schulte N, Kelsch R, Röpke A, Kiesel L, Götte M. Schüring AN, et al. Among authors: ropke a. Fertil Steril. 2011 Jan;95(1):423-6. doi: 10.1016/j.fertnstert.2010.08.035. Fertil Steril. 2011. PMID: 20864098
We conclude that adult stem cells are present in endometrial biopsies performed in a routine clinical setting, offering new large-scale approaches for future research, diagnostics, and therapies involving adult stem cells....
We conclude that adult stem cells are present in endometrial biopsies performed in a routine clinical setting, offering new large-sca …
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A. Tüttelmann F, et al. Among authors: ropke a. PLoS One. 2011 Apr 29;6(4):e19426. doi: 10.1371/journal.pone.0019426. PLoS One. 2011. PMID: 21559371 Free PMC article.
A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of spermatogenic failure remains frequently obscure. ...CNVs found several times in all groups were analysed in a case-control design and
A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of sp
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
Röpke A, Tewes AC, Gromoll J, Kliesch S, Wieacker P, Tüttelmann F. Röpke A, et al. Eur J Hum Genet. 2013 Sep;21(9):1012-5. doi: 10.1038/ejhg.2012.290. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299922 Free PMC article.
The steroidogenic factor 1 (SF1) protein, encoded by the NR5A1 gene, plays a central role in gonadal development and steroidogenesis. ...Therefore, we performed a comprehensive NR5A1 sequence analysis in 488 well-characterised predominantly Caucasian patients with a …
The steroidogenic factor 1 (SF1) protein, encoded by the NR5A1 gene, plays a central role in gonadal development and steroidogenesis. …
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F. Yatsenko AN, et al. Among authors: ropke a. N Engl J Med. 2015 May 28;372(22):2097-107. doi: 10.1056/NEJMoa1406192. Epub 2015 May 13. N Engl J Med. 2015. PMID: 25970010 Free PMC article.
RESULTS: We identified a 99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons. This loss, which was identical in 2 patients with azoospermia, predicts a deletion of 79 amino acids within the meiosis-specific sporulation domain SPO22. ...CONCLUS …
RESULTS: We identified a 99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons. This loss, which was identical i …
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentino S, Gromoll J. Borgmann J, et al. Among authors: ropke a. Hum Mol Genet. 2016 Nov 15;25(22):4898-4910. doi: 10.1093/hmg/ddw313. Hum Mol Genet. 2016. PMID: 28171660 Free PMC article.
This revealed two mutations in RHOXF1 (c.515G > A and c.522C > T) and four in RHOXF2/2B (-73C > G, c.202G > A, c.411C > T and c.679G > A), of which only one (c.202G > A) was found in a control group of men with normal sperm …
This revealed two mutations in RHOXF1 (c.515G > A and c.522C > T) and four in RHOXF2/2B (-73C > G, c.202G > A, c.4 …
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S. Okutman O, et al. Among authors: ropke a. J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11. J Assist Reprod Genet. 2017. PMID: 28401488 Free PMC article.
CONCLUSION: The whole exome analysis of a consanguineous Turkish family revealed MAGEB4 as a possible new X-linked cause of inherited male infertility. This study provides the first clue to the physiological function of a MAGE protein....
CONCLUSION: The whole exome analysis of a consanguineous Turkish family revealed MAGEB4 as a possible new X-linked cause of in …
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F. Röpke A, et al. Eur J Endocrinol. 2017 Nov;177(5):R249-R259. doi: 10.1530/EJE-17-0246. Epub 2017 Jun 13. Eur J Endocrinol. 2017. PMID: 28611019 Review.
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. ...This is supported by the recent description of a
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximat …
Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
van der Bijl N, Röpke A, Biswas U, Wöste M, Jessberger R, Kliesch S, Friedrich C, Tüttelmann F. van der Bijl N, et al. Among authors: ropke a. Hum Reprod. 2019 Nov 1;34(11):2112-2119. doi: 10.1093/humrep/dez204. Hum Reprod. 2019. PMID: 31682730
STUDY QUESTION: Are sequence variants in the stromal antigen 3 (STAG3) gene a cause for non-obstructive azoospermia (NOA) in infertile human males? ...Our results indicate that STAG3 variants that negatively affect its protein function are a rare cause of NOA (<1 …
STUDY QUESTION: Are sequence variants in the stromal antigen 3 (STAG3) gene a cause for non-obstructive azoospermia (NOA) in infertil …
Copy number variants in premature ovarian failure and ovarian dysgenesis.
Ledig S, Röpke A, Wieacker P. Ledig S, et al. Among authors: ropke a. Sex Dev. 2010 Sep;4(4-5):225-32. doi: 10.1159/000314958. Epub 2010 Jul 3. Sex Dev. 2010. PMID: 20606390
Although a multitude of different factors including non-genetic as well as genetic causes are known to play a role in the development of POF and OD, the underlying etiology remains unsolved in the majority of cases. In the last years, array-CGH was found to be a
Although a multitude of different factors including non-genetic as well as genetic causes are known to play a role in the deve …
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