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Nipped-B homolog

NIPBL, Scc2, Nipped-B-like
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Scc1, RPD3, HAD, CAN, OUT
Papers on NIPBL
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
Gerton et al., Kansas City, United States. In Cell Rep, Feb 2016
NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization.
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Cormier-Daire et al., Paris, France. In Clin Genet, Jan 2016
UNASSIGNED: Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation.
Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction.
Kaiser et al., Lübeck, Germany. In Clin Genet, Jan 2016
UNASSIGNED: Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies.
Recognition of the Cornelia de Lange Syndrome Phenotype with Facial Dysmorphology Novel Analysis.
Deardoff et al., Petah Tikva, Israel. In Clin Genet, Jan 2016
In the first experiment, 2D facial images of CdLS patients with either an NIPBL or SMC1A gene mutation as well as non-CdLS patients which were assessed by dysmorphologists in a previous study were evaluated by the FDNA technology; the average detection rate of experts was 77% while the system's detection rate was 87%.
Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.
Roccella et al., Palermo, Italy. In Ment Illn, Oct 2015
Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases.
Cornelia de Lange syndrome.
Tümer et al., Copenhagen, Denmark. In Clin Genet, Jul 2015
To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients.
Cohesin gene mutations in tumorigenesis: from discovery to clinical significance.
Waldman et al., San Francisco, United States. In Bmb Rep, 2014
NIPBL, PDS5B, ESPL1) in a select subset of human tumors including glioblastoma, Ewing sarcoma, urothelial carcinoma, acute myeloid leukemia, and acute megakaryoblastic leukemia.
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Khalifa et al., Akron, United States. In Am J Med Genet A, 2014
Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS.
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Musio et al., Pisa, Italy. In Hum Mutat, 2013
Approximately 60% of CdLS cases are due to NIPBL mutations, 5% caused by mutations in SMC1A, RAD21, and HDAC8 and one proband was found to carry a mutation in SMC3.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Shirahige et al., Philadelphia, United States. In Nature, 2012
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands.
[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].
Zhao et al., Changsha, China. In Zhonghua Er Ke Za Zhi, 2012
CONCLUSION: Typical clinical manifestations of CdLS are specific facial features (mainly synophrys, long and curved eyelashes, long prominent philtrum), complications of multi-system malformations (mainly growth and developmental retardation, esophagogastric reflex, hypophalangism), related gene mutations occurred in NIPBL, SMC1A, and SMC3 gene.
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Larizza et al., Milano, Italy. In Eur J Hum Genet, 2012
Large deletions/duplications in the NIPBL gene are detected in Cornelia de Lange patients.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Kaiser et al., Lübeck, Germany. In Eur J Hum Genet, 2012
Specific novel mutations at the N-terminus of the MAU2-interacting domain of NIBPL result in markedly reduced MAU2 binding.
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Lupski et al., Houston, United States. In Genet Med, 2012
Our findings suggest a potential clinical utility to testing for copy number variations involving NIPBL when clinically diagnosed CdLS cases are mutation-negative by DNA-sequencing studies.
Recruitment of the cohesin loading factor NIPBL to DNA double-strand breaks depends on MDC1, RNF168 and HP1γ in human cells.
Yamashita et al., Nagasaki, Japan. In Biochem Biophys Res Commun, 2011
this study reveals that human NIPBL is a novel protein recruited to DSB sites, and the recruitment is controlled by MDC1, RNF168 and HP1gamma.
Scc2 regulates gene expression by recruiting cohesin to the chromosome as a transcriptional activator during yeast meiosis.
Yu et al., Tallahassee, United States. In Mol Biol Cell, 2011
Scc2 is required for activating the expression of REC8 and Scc2 is necessary for recruiting meiotic cohesin to the chromosome to generate sister-chromatid cohesion.
Mediator and cohesin connect gene expression and chromatin architecture.
Young et al., Cambridge, United States. In Nature, 2010
The cohesin-loading factor Nipbl is associated with mediator-cohesin complexes, providing a means to load cohesin at promoters.
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Larizza et al., Segrate, Italy. In Nat Genet, 2006
Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals.
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Strachan et al., Newcastle upon Tyne, United Kingdom. In Nat Genet, 2004
We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure and the structures of mouse, rat and zebrafish homologs.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Jackson et al., Philadelphia, United States. In Nat Genet, 2004
identified mutations in one gene, NIPBL, in four sporadic and two familial cases of Cornelia de Lange syndrome
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