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Article

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

Pathologie-biologie - 1 Nov 1998

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet M C, Zemni R, Carrié A, Beldjord C, Kahn A, Moraine C, Chelly J

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9885813

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.PMID 9885813Read ↗

[X-linked mental retardation].Semantic proximity Read ↗

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.Semantic proximity Read ↗

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.Semantic proximity Read ↗

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearanceSemantic proximity Read ↗

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Semantic proximity Read ↗

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.Semantic proximity Read ↗

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.Semantic proximity Read ↗

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 functionSemantic proximity Read ↗

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.Semantic proximity Read ↗

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network.Semantic proximity Read ↗

The role of Rho GTPases in disease developmentSemantic proximity Read ↗

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