Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

Humans RNA Splice Sites / genetics Haploinsufficiency / genetics Alternative Splicing / genetics RNA, Messenger / genetics Mutation Clathrin Heavy Chains / genetics
CLTC cryptic splice acceptor intellectual disability nonsense mediated mRNA decay

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
08 2023
Historique:
revised: 21 03 2023
received: 21 01 2023
accepted: 06 05 2023
medline: 19 7 2023
pubmed: 17 5 2023
entrez: 17 5 2023
Statut: ppublish

Résumé

Tandem splice acceptors (NAGN

Identifiants

DOI: 10.1002/ajmg.a.63249 PMID: 37196051
pubmed: 37196051
doi: 10.1002/ajmg.a.63249
doi:

Substances chimiques

RNA Splice Sites 0
RNA, Messenger 0
CLTC protein, human 0
Clathrin Heavy Chains 114899-12-6

Types de publication

Case Reports Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2219-2224

Informations de copyright

© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Références

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Auteurs

Adam P Sage (AP)

MD Undergraduate Program, University of British Columbia, Vancouver, British Columbia, Canada.
ORCID: 0000-0002-4519-6970

Hyun Kyung Lee (HK)

Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Joshua Dalmann (J)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Susan Lin (S)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Simran Samra (S)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Areesha Salman (A)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Kate L Del Bel (KL)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Wenhui Laura Li (WL)

Breakthrough Genomics, Irvine, California, USA.

Anna Lehman (A)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Stuart E Turvey (SE)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Cornelius F Boerkoel (CF)

Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
ORCID: 0000-0003-3097-241X

Phillip A Richmond (PA)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Generation of tandem alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Sites d'épissage d'ARN › Generation of tandem alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Dosage génique › Haploinsuffisance › Generation of tandem alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Épissage alternatif › Generation of tandem alternative splice...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN messager › Generation of tandem alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Generation of tandem alternative splice...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Clathrine › Chaines lourdes de la clathrine › Generation of tandem alternative splice...