Varaico: Literature-Extracted Genetic Variants

Gene:TRIM71
Variant:p.R608H
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TRIM71

NM_001039111.3:p.R608H

Associated Papers

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

Li XJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development.

Li XJ et al.

Biorxiv : the Preprint Server for Biology, 2025

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Duy PQ et al.

Brain : a Journal of Neurology, 2024

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

Molecular mechanism governing RNA-binding property of mammalian TRIM71 protein.

Shi F et al.

Science Bulletin, 2024

Different congenital hydrocephalus-associated mutations in Trim71 impair stem cell differentiation via distinct gain-of-function mechanisms.

Liu Q et al.

Plos Biology, 2023

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.

Chen Y et al.

Plos Biology, 2023

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.

Duy PQ et al.

Nature Neuroscience, 2022

Molecular and biological functions of TRIM-NHL RNA-binding proteins.

Connacher RP et al.

Wiley Interdisciplinary Reviews. Rna, 2021

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Jin SC et al.

Nature Medicine, 2020

TRIM E3 Ubiquitin Ligases in Rare Genetic Disorders.

Meroni G

Advances in Experimental Medicine and Biology, 2020

The mRNA repressor TRIM71 cooperates with Nonsense-Mediated Decay factors to destabilize the mRNA of CDKN1A/p21.

Torres-Fernández LA et al.

Nucleic Acids Research, 2019

The RNA hairpin binder TRIM71 modulates alternative splicing by repressing MBNL1.

Welte T et al.

Genes & Development, 2019

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG et al.

Neuron, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."