Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

doi:10.3390/ijms150610350

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

Community

Back to search

Article

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

International journal of molecular sciences - 10 Jun 2014

Teresa-Rodrigo María E, Eckhold Juliane, Puisac Beatriz, Dalski Andreas, Gil-Rodríguez María C, Braunholz Diana, Baquero Carolina, Hernández-Marcos María, de Karam Juan C, Ciero Milagros, Santos-Simarro Fernando, Lapunzina Pablo, Wierzba Jolanta, Casale César H, Ramos Feliciano J, Gillessen-Kaesbach Gabriele, Kaiser Frank J, Pié Juan

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to De Lange Syndrome

Share to Frameshift Mutation

Share to Infant

Share to Protein Isoforms

Share to Proteins

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 24918291
DOI: 10.3390/ijms150610350
PMCID: PMC4100155

Genes

NIPBL
HDAC8
RAD21
SMC3

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

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.PMID 24918291Read ↗

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.Semantic proximity Read ↗

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Semantic proximity Read ↗

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.Semantic proximity Read ↗

Cornelia de Lange Spectrum.Semantic proximity Read ↗

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.Semantic proximity Read ↗

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.Semantic proximity Read ↗

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