Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development-Reference-Cited by-同舟云学术

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

Published:2022-01-15 Issue:3 Volume:43 Page:420-433
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marko Hannah L.¹,Hornig Nadine C.²,Betz Regina C.³,Holterhus Paul‐Martin²,Altmüller Janine⁴,Thiele Holger⁴,Fabiano Marietta⁵,Schweikert Hans‐Udo¹,Braun Doreen¹,Schweizer Ulrich¹^ORCID

Affiliation:

1. Institut für Biochemie und Molekularbiologie Medizinische Fakultät, Rheinische Friedrich‐Wilhelms‐Universität Bonn Bonn Germany

2. Klinik für Kinder und Jugendmedizin I, Bereich Pädiatrische Endokrinologie und Diabetologie Universitätsklinikum Schleswig‐Holstein, UKSH, Campus Kiel, Kiel Germany

3. Institute of Human Genetics Medizinische Fakultät, Rheinische Friedrich‐Wilhelms‐Universität Bonn Bonn Germany

4. Cologne Center for Genomics University of Cologne Cologne Germany

5. Department of Neurology Medizinische Fakultät, Rheinische Friedrich‐Wilhelms‐Universität Bonn Bonn Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24325

Reference45 articles.

1. A method and server for predicting damaging missense mutations

2. Development of Laboratory Investigations in Disorders of Sex Development

3. Update on the genetics of differences of sex development (DSD)

4. Melanoma Antigen Gene Protein MAGE-11 Regulates Androgen Receptor Function by Modulating the Interdomain Interaction

5. Sodium-dependent organic anion transporter ( Slc10a6−/− ) knockout mice show normal spermatogenesis and reproduction, but elevated serum levels for cholesterol sulfate