Varaico: Literature-Extracted Genetic Variants

Gene:CRBN
Variant:p.R419*
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CRBN

NM_016302.4:p.R419*

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The CB1 receptor interacts with cereblon and drives cereblon deficiency-associated memory shortfalls.

Costas-Insua C et al.

Embo Molecular Medicine, 2024

Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report.

Perche O et al.

Journal of Medical Case Reports, 2022

Novel Molecular Mechanism of Lenalidomide in Myeloid Malignancies Independent of Deletion of Chromosome 5q.

Park I et al.

Cancers, 2021

Cereblon-mediated degradation of the amyloid precursor protein via the ubiquitin-proteasome pathway.

Kurihara T et al.

Biochemical and Biophysical Research Communications, 2020

Cereblon attenuates DNA damage-induced apoptosis by regulating the transcription-independent function of p53.

Zhou L et al.

Cell Death & Disease, 2019

Cereblon Maintains Synaptic and Cognitive Function by Regulating BK Channel.

Choi TY et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.

Bavley CC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

CRL4 antagonizes SCFFbxo7-mediated turnover of cereblon and BK channel to regulate learning and memory.

Song T et al.

Plos Genetics, 2018

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

Sheereen A et al.

Journal of Medical Genetics, 2017

Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome.

Deng PY et al.

The Journal of Physiology, 2016

Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction.

Sawamura N et al.

Biochemical and Biophysical Research Communications, 2015

Structural dynamics of the cereblon ligand binding domain.

Hartmann MD et al.

Plos One, 2015

Functional effects of a pathogenic mutation in Cereblon (CRBN) on the regulation of protein synthesis via the AMPK-mTOR cascade.

Lee KM et al.

The Journal of Biological Chemistry, 2014

Absence of mutations in cereblon (CRBN) and DNA damage-binding protein 1 (DDB1) genes and significance for IMiD therapy.

Thakurta A et al.

Leukemia, 2014

Genetics of recessive cognitive disorders.

Musante L et al.

Trends in Genetics : Tig, 2014

A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition.

Xu G et al.

The Journal of Biological Chemistry, 2013

Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2012

Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability.

Rajadhyaksha AM et al.

Behavioural Brain Research, 2012

What is the functional role of the thalidomide binding protein cereblon?

Chang XB et al.

International Journal of Biochemistry and Molecular Biology, 2011

Identification of a primary target of thalidomide teratogenicity.

Ito T et al.

Science (new York, N.y.), 2010

20223979 (PubMed )
Supplement: ito.som.pdf

Temporal and spatial mouse brain expression of cereblon, an ionic channel regulator involved in human intelligence.

Higgins JJ et al.

Journal of Neurogenetics, 2010

Cereblon is expressed in the retina and binds to voltage-gated chloride channels.

Hohberger B et al.

Febs Letters, 2009

Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.

Higgins JJ et al.

Neurogenetics, 2008

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

Basel-Vanagaite L

Clinical Genetics, 2007

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.

Higgins JJ et al.

Neurology, 2004

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