Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Patrick Sproll"'
Autor:
Erkut Ilaslan, Renata Markosyan, Patrick Sproll, Brian J. Stevenson, Malgorzata Sajek, Marcin P. Sajek, Hasmik Hayrapetyan, Tamara Sarkisian, Ludmila Livshits, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 21, p 8403 (2020)
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS
Externí odkaz:
https://doaj.org/article/95545f9b3253405f88d6a1584e7aa4fb
Autor:
Mariarosaria Lang-Muritano, Daniel Konrad, Patrick Sproll, Anna Biason-Lauber, Anne Kolly, Sascha Wyss, Renate Hürlimann
ContextEstrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovaria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df94005d19d37374230a309ecc50786a
http://doc.rero.ch/record/332625/files/JCEM_103_10_3748.pdf
http://doc.rero.ch/record/332625/files/JCEM_103_10_3748.pdf
Autor:
Daniel Konrad, Sascha Wyss, Karine Gerster, Patrick Sproll, Claudia Katschnig, Anna Biason-Lauber, Anne Kolly
Background: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0B1) playing a key role in adrenal and reproductive development. Case presentation: Herein we report a 2.5-year-old boy who presented with acute adrenal failur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4926670ffc6ff2b5bdc6a7339041c9f8
http://doc.rero.ch/record/332190/files/jpem-2017-0261.pdf
http://doc.rero.ch/record/332190/files/jpem-2017-0261.pdf
Autor:
Kamila Kusz-Zamelczyk, Patrick Sproll, Erkut Ilaslan, Hasmik Hayrapetyan, Tamara Sarkisian, Renata Markosyan, Jadwiga Jaruzelska, Serge Nef, Brian Stevenson, Marcin Sajek, L. A. Livshits, Malgorzata Sajek
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 8403, p 8403 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 8403, p 8403 (2020)
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e25329ba5b27c4a3567f1e10796bea3
http://doc.rero.ch/record/329767/files/spr_fge.pdf
http://doc.rero.ch/record/329767/files/spr_fge.pdf
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)
Scientific Reports
Scientific Reports
Sex development, a complex and indispensable process in all vertebrates, has still not been completely elucidated, although new genes involved in sex development are constantly being discovered and characterized. Chromobox Homolog 2 (CBX2) is one of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c846cbb3112fe0bac0f9535f28d6f474
https://doi.org/10.1530/ey.17.6.6
https://doi.org/10.1530/ey.17.6.6
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-18 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-18 (2019)
The chromobox homolog 2 (CBX2) was found to be important for human testis development, but its role in the human ovary remains elusive. We conducted a genome-wide analysis based on DNA adenine methyltransferase identification (DamID) and RNA sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41da5742978fba729a60b1c631d4c834
http://europepmc.org/articles/PMC6864077
http://europepmc.org/articles/PMC6864077
Autor:
Patrick Sproll, Nathalia Lisboa Gomes, Anna Biason-Lauber, Wassim Eid, Camila R. Gomes, Elaine Maria Frade Costa, Berenice B. Mendonca
Publikováno v:
Molecular Genetics & Genomic Medicine
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48870b152ec2da1fc70292250ebba54
https://doi.org/10.1530/ey.16.6.5
https://doi.org/10.1530/ey.16.6.5
Autor:
Patrick Sproll, Amit V. Pandey
Publikováno v:
Frontiers in pharmacology
Frontiers in Pharmacology, Vol 5 (2014)
Pandey, Amit Vikram; Sproll, Patrick (2014). Pharmacogenomics of human P450 oxidoreductase. Frontiers in Pharmacology, 5, p. 103. Frontiers 10.3389/fphar.2014.00103
Frontiers in Pharmacology
Frontiers in Pharmacology, Vol 5 (2014)
Pandey, Amit Vikram; Sproll, Patrick (2014). Pharmacogenomics of human P450 oxidoreductase. Frontiers in Pharmacology, 5, p. 103. Frontiers 10.3389/fphar.2014.00103
Frontiers in Pharmacology
Cytochrome P450 oxidoreductase (POR) supports reactions of microsomal cytochrome P450 which metabolize drugs and steroid hormones. Mutations in POR cause disorders of sexual development. P450 oxidoreductase deficiency (PORD) was initially identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f66c8077e02c17ef69fc73c8ddd1da43
http://journal.frontiersin.org/Journal/10.3389/fphar.2014.00103/abstract
http://journal.frontiersin.org/Journal/10.3389/fphar.2014.00103/abstract