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

Gene expression in meiotic cells in the testis is characterized by intense transcriptional activity and alternative splicing. These processes are mainly controlled by RNA‐binding proteins expressed strongly in germ cells. Functional impairments in any of these proteins' functions can lead to de...

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Veröffentlicht in:	Andrologia 2022-12, Vol.54 (11), p.n/a
Hauptverfasser:	Ghieh, Farah, Izard, Vincent, Poulain, Marine, Fortemps, Johanne, Kazdar, Nadia, Mandon‐Pepin, Béatrice, Ferlicot, Sophie, Ayoubi, Jean Marc, Vialard, François
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Case reports Frameshift mutation Gene expression Germ cells Infertility Life Sciences MEIOC Meiosis meiotic arrest Poisoning Proteins RBMXL2 Reproductive Biology RNA-binding protein Spermatogenesis Testes Transcriptomes whole‐exome sequencing Yeast
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