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

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.

Human mutation - 1 Jun 2013

Grey William, Izatt Louise, Sahraoui Wafa, Ng Yiu-Ming, Ogilvie Caroline, Hulse Anthony, Tse Eric, Holic Roman, Yu Veronica

Abstract excerpt

Germline mutations in the cyclin-dependent kinase inhibitor, CDKN1B, have been described in patients with multiple endocrine neoplasia (MEN), a cancer predisposition syndrome with adult onset neoplasia and no additional phenotypes. Here, we describe the first human case of CDKN1B deficiency, which recapitulates features of the murine CDKN1B knockout mouse model, including gigantism and neurodevelopmental defects....

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Cyclin-Dependent Kinase Inhibitor p27

Share to Developmental Disabilities

Share to Gene Expression

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 23505216
DOI: 10.1002/humu.22314
PMCID: PMC3708111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.PMID 23505216Read ↗

Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.Semantic proximity Read ↗

Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human TumorsSemantic proximity Read ↗

CDKN1C mutations: two sides of the same coin.Semantic proximity Read ↗

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.Semantic proximity Read ↗

Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4Semantic proximity Read ↗

Imprinted Cdkn1c genomic locus cell-autonomously promotes cell survival in cerebral cortex development.Semantic proximity Read ↗

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.Semantic proximity Read ↗

MNB/DYRK1A as a multiple regulator of neuronal developmentSemantic proximity Read ↗

Deletion of DDB1 in mouse brain and lens leads to p53-dependent elimination of proliferating cells.Semantic proximity Read ↗

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.Semantic proximity Read ↗

The MENX syndrome and p27: relationships with multiple endocrine neoplasia.Semantic proximity Read ↗

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