Novel unconventional variants expand the allelic spectrum of OPHN1 gene-Reference-Cited by-同舟云学术

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Novel unconventional variants expand the allelic spectrum of OPHN1 gene

Published:2021-02-27 Issue:5 Volume:185 Page:1575-1581
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nuovo Sara¹^ORCID,Brankovic Vesna²,Caputi Caterina¹,Casella Antonella³⁴,Nigro Vincenzo⁵⁶,Leuzzi Vincenzo¹^ORCID,Valente Enza Maria³⁴

Affiliation:

1. Department of Human Neuroscience Sapienza University of Rome Rome Italy

2. Clinic for Child Neurology and Psychiatry University of Belgrade Belgrade Serbia

3. Department of Molecular Medicine University of Pavia Pavia Italy

4. IRCCS Mondino Foundation Pavia Italy

5. Department of Precision Medicine University of Campania "Luigi Vanvitelli" Naples Italy

6. Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli Italy

Funder

Fondazione Pierfranco e Luisa Mariani

Fondazione Telethon

H2020 European Research Council

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62144

Reference16 articles.

1. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

2. Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability

3. The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

4. The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay;BMC Medical Genomics;2024-07-02

2. The First Cases of OPHN1 Exons 1 and 2 Deletion in Two X-linked Intellectual Developmental Disorder Patients in Korea;Laboratory Medicine Online;2023-04-01

3. A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay;Gene Reports;2022-06

4. Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities;International Journal of Molecular Sciences;2021-06-07

5. Novel unconventional variants expand the allelic spectrum of OPHN1 gene;American Journal of Medical Genetics Part A;2021-02-27

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