Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms-Reference-Cited by-同舟云学术

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

Published:2023-02-08 Issue:3 Volume:8 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Cassin Jessica^ORCID,Stamou Maria I.,Keefe Kimberly W.^ORCID,Sung Kaitlin E.,Bojo Celine C.,Tonsfeldt Karen J.,Rojas Rebecca A.,Ferreira Lopes Vanessa,Plummer Lacey,Salnikov Kathryn B.,Keefe David L.^ORCID,Ozata Metin^ORCID,Genel Myron,Georgopoulos Neoklis A.,Hall Janet E.^ORCID,Crowley William F.,Seminara Stephanie B.,Mellon Pamela L.^ORCID,Balasubramanian Ravikumar

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Diabetes and Digestive and Kidney Diseases

National Cancer Institute

National Institute of Environmental Health Sciences

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/164324/files/pdf

Reference59 articles.

1. Williamson KA, et al. SOX2 Disorder. In: Adam MP, et al., eds. GeneReviews. University of Washington; 2022. https://www.ncbi.nlm.nih.gov/books/NBK1300/

2. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

3. NovelSOX2mutations and genotypeâphenotype correlation in anophthalmia and microphthalmia

4. Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network;Balasubramanian;Mol Cell Endocrinol,2011

5. Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era