A pathogenic <i>AKAP4</i> variant, p.R429H, causes male in/subfertility in humans and mice-Reference-Cited by-全球学者库

A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice

Published:2023-12 Issue:12 Volume:13 Page:
ISSN:2001-1326
Container-title:Clinical and Translational Medicine
language:en
Short-container-title:Clinical & Translational Med

Author:

Wei Han¹²³,Zhang Xiaohui⁴,Wang Chunyan¹²,Wang Jing⁵,Li Tengyan¹,Chen Suren⁴,Li Hongjun²⁶^ORCID,Wang Binbin¹²⁷^ORCID

Affiliation:

1. Center for Genetics National Research Institute for Family Planning Beijing China

2. Graduate School Chinese Academy of Medical Sciences & Peking Union Medical College Beijing China

3. Center for Reproductive and Genetic Medicine Dalian Municipal Women and Children's Medical Center Dalian China

4. Key Laboratory of Cell Proliferation and Regulation Biology Ministry of Education Department of Biology College of Life Sciences Beijing Normal University Beijing China

5. Department of Medical Genetics and Developmental Biology School of Basic Medical Sciences Capital Medical University Beijing China

6. Department of Urology Peking Union Medical College Hospital Beijing China

7. NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP) Beijing China

Funder

Beijing Municipal Natural Science Foundation

Publisher

Wiley

Subject

Molecular Medicine,Medicine (miscellaneous)

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ctm2.1463

Reference10 articles.

1. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

2. Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development

3. A-Kinase Anchoring Protein 4 Binding Proteins in the Fibrous Sheath of the Sperm Flagellum

4. Fibrous sheath of mammalian spermatozoa

5. Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis