Zobrazeno 1 - 10
of 140
pro vyhledávání: '"C. HORNIG"'
Publikováno v:
Kidney International Reports, Vol 6, Iss 4, Pp S272-S273 (2021)
Externí odkaz:
https://doaj.org/article/d9cea4fe11104e2c81d2e244e5c9b8ab
Autor:
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A. Verrijn Stuart, Jacques C. Giltay, Koen L. van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C. Hornig
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production. Classically,
Externí odkaz:
https://doaj.org/article/5524b49d61884a60b96670d591ac069f
Autor:
Helena Fabbri-Scallet, Ralf Werner, Mara S. Guaragna, Juliana G.R. de Andrade, Andrea T. Maciel-Guerra, Nadine C. Hornig, Olaf Hiort, Gil Guerra-Júnior, Maricilda P. de Mello
Publikováno v:
Sexual Development. 16:252-260
Introduction: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex develop
Autor:
Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0154158 (2016)
A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity
Externí odkaz:
https://doaj.org/article/7ecb7fae1043403e9ed324ea4e8a3f14
Publikováno v:
Value in Health. 25:S289
Autor:
Hannah L. Marko, Nadine C. Hornig, Regina C. Betz, Paul‐Martin Holterhus, Janine Altmüller, Holger Thiele, Marietta Fabiano, Hans‐Udo Schweikert, Doreen Braun, Ulrich Schweizer
Publikováno v:
Human mutationREFERENCES. 43(3)
Transporter-dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice and fruit flies. We hypothesized that mutations in such transporters may cause differences in sex development (DSD) in humans. Exome sequen
Publikováno v:
Kidney International Reports, Vol 6, Iss 4, Pp S272-S273 (2021)
Autor:
Helena, Fabbri-Scallet, Ralf, Werner, Mara S, Guaragna, Juliana G R, de Andrade, Andrea T, Maciel-Guerra, Nadine C, Hornig, Olaf, Hiort, Gil, Guerra-Júnior, Maricilda P, de Mello
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation.
NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD).The
Publikováno v:
Value in Health. 25:S71
Publikováno v:
Value in Health
Objectives: As a life-sustaining therapy, haemodialysis must be delivered continuously three times per week, also during COVID-19 Technical services, although often not acknowledged, are an essential part to ensure access to and continuity of care de