Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in <scp> <i>RBMXL2</i> </scp> : A case report-Reference-Cited by-同舟云学术

Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in RBMXL2 : A case report

Published:2022-09-14 Issue:11 Volume:54 Page:
ISSN:0303-4569
Container-title:Andrologia
language:en
Short-container-title:Andrologia

Author:

Ghieh Farah¹²,Izard Vincent³⁴,Poulain Marine¹²⁴,Fortemps Johanne⁵,Kazdar Nadia⁶^ORCID,Mandon‐Pepin Béatrice¹²,Ferlicot Sophie⁷,Ayoubi Jean Marc¹²⁴,Vialard François¹²⁸^ORCID

Affiliation:

1. UVSQ, INRAE, BREED Université Paris‐Saclay Jouy‐en‐Josas France

2. École Nationale Vétérinaire d'Alfort, BREED Maisons‐Alfort France

3. Centre Chirurgical Pierre Cherest Neuilly‐sur‐Seine France

4. Département d'urologie Hôpital Foch Suresnes France

5. Service d'Anatomie Pathologique CHI de Poissy/Saint‐Germain‐en‐Laye Saint‐Germain‐en‐Laye France

6. Laboratoire Unilabs Eylau Paris France

7. Service d'Anatomie Pathologique, AP‐HP Université Paris‐Saclay, Hôpital de Bicêtre Le Kremlin‐Bicêtre France

8. Département de Génétique, Laboratoire de Biologie Médicale CHI de Poissy/Saint‐Germain‐en‐Laye Poissy France

Funder

Agence de la Biomédecine

International Rett Syndrome Foundation

Publisher

Hindawi Limited

Subject

Urology,Endocrinology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.14595

Reference23 articles.

1. Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases

2. Genetics of Azoospermia

3. Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1

4. An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning

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