ArticleJournal of medical genetics2017
A missense mutation in the
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- PCMT1 generates the C-terminal cyclic imide degron on CRBN substrates.Nature chemical biology · 2026Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Cullin-RING Ubiquitin Ligases in Neurodevelopment and Neurodevelopmental Disorders.Biomedicines · 2025Review
- The histone demethylase KDM5C enhances the sensitivity of acute myeloid leukemia cells to lenalidomide by stabilizing cereblon.Cellular & molecular biology letters · 2025Article
- Lys-63-specific deubiquitinase BRCC36 enhances the sensitivity of multiple myeloma cells to lenalidomide by inhibiting lysosomal degradation of cereblon.Cellular and molecular life sciences : CMLS · 2024Article
- The CBEMBO molecular medicine · 2024Article
- Genome-wide association and selective sweep analyses reveal genetic loci for FCR of egg production traits in ducks.Genetics, selection, evolution : GSE · 2021Article
- Cereblon-Based Small-Molecule Compounds to Control Neural Stem Cell Proliferation in Regenerative Medicine.Frontiers in cell and developmental biology · 2021Review
- Molecular Mechanisms of the Teratogenic Effects of Thalidomide.Pharmaceuticals (Basel, Switzerland) · 2020Review
- Molecular mechanisms of thalidomide and its derivatives.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2020Article
- De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.Human molecular genetics · 2019Article
- Cereblon attenuates DNA damage-induced apoptosis by regulating the transcription-independent function of p53.Cell death & disease · 2019Article
- SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate.Nature chemical biology · 2018Article
- Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.eLife · 2018Article
- Cereblon Maintains Synaptic and Cognitive Function by Regulating BK Channel.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- CRL4 antagonizes SCFFbxo7-mediated turnover of cereblon and BK channel to regulate learning and memory.PLoS genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning.
objectivesWe aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members.
methodsClinical whole-exome sequencing was performed on the proband patient, and Sanger sequencing was done to validate and confirm segregation in other family members.
resultsA missense variant (c. 1171T>C) in the
conclusionsThese findings thus contribute to a growing list of ID disorders caused by
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.