Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.

Human mutation - 1 May 2020

Liu Xiaomin, Hu Guorui, Ye Jun, Ye Bin, Shen Nan, Tao Yue, Zhang Xia, Fan Yanjie, Liu Huili, Zhang Zhigang, Fang Danfeng, Gu Xuefan, Mo Xi, Yu Yongguo

Abstract excerpt

Haploinsufficiency of ARID1B (AT-rich interaction domain 1B) has been involved in autism spectrum disorder, nonsyndromic and syndromic intellectual disability, and corpus callosum agenesis. Growth impairment is a major clinical feature caused by ARID1B mutations; however, the mechanistic link has not been elucidated. Here, we confirm that growth delay is a common characteristic of patients with ARID1B mutations,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Animals, Genetically Modified
Share to Body Weights and Measures

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Gene Knockdown Techniques

Share to Gene Silencing

Share to Growth Disorders

Share to Loss of Function Mutation

Share to Wnt Signaling Pathway

Source

Identifiers

PMID: 31981384
DOI: 10.1002/humu.23990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.PMID 31981384Read ↗

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.Semantic proximity Read ↗

<i>ARID1B</i>-mediated disorders: Mutations and possible mechanismsSemantic proximity Read ↗

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.Semantic proximity Read ↗

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specificationSemantic proximity Read ↗

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial to mesenchymal transition in cranial neural crest lineage commitmentSemantic proximity Read ↗

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodesSemantic proximity Read ↗

Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1Semantic proximity Read ↗

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.Semantic proximity Read ↗

ARID1B is a Dosage-sensitive Regulator of Polycomb Repressive Complex Distribution and HOX Gene Regulation in Patient-derived Neural ProgenitorsSemantic proximity Read ↗

Abnormal Chromatin Remodeling Caused by ARID1A Deletion Leads to Malformation of the Dentate GyrusSemantic proximity Read ↗

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.Semantic proximity Read ↗

ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathwaysSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.