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NIPBL encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. Additionally we are shipping NIPBL Proteins (2) and many more products for this protein.
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Cow (Bovine) Polyclonal NIPBL Primary Antibody for EIA, WB - ABIN401167
Gillis, McCallum, Kaur, DeScipio, Yaeger, Mariani, Kline, Li, Devoto, Jackson, Krantz: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. in American journal of human genetics 2004
Show all 3 references for ABIN401167
Nipbl and mediator cooperatively regulate gene expression to control limb development.
The present s (show WNT2 Antibodies)tudy focuses on th (show CCND1 Antibodies)e role of the zebrafish nipblb paralog during neural development.
Nipbl-deficient embryos showed changes in the expression of genes involved in the specification of endoderm, which gives rise to gut (show GUSB Antibodies) and provides a substrate for cardiac precursor migration, as well as genes that regulate left-right asymmetry
NIPBL gene mutation is associated with Thrombocytopenia in Cornelia de Lange syndrome.
This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (show HDAC8 Antibodies) mutations and PKR (show PKLR Antibodies) activation.
NIPBL expression conferred poor prognosis and resistance to chemotherapy in non-small cell lung cancer
Scc2 normally promotes a gene expression program that supports translational fidelity. . translational dysfunction may contribute to the human disorder Cornelia de Lange syndrome, which is caused by mutations in NIPBL, the human ortholog of SCC2.
There was an increased frequncy of NIPBL mutations in a cohort of prenatal ultrasound detected phenotypes of Cornelia de Lange syndrome.
A new Sanger sequencing reveals new hidden mutations in NIPBL gene not detected with conventional approach.
analysis of the mutation spectrum of NIPBL in in Chinese patients with Cornelia de Lange syndrome
Nine mutations affecting splice-sites in the NIPBL gene and four new splicing isoforms DeltaE10, DeltaE12, DeltaE33,34, and B' was identified in twelve CdLS patients.
defects of NIPBL might lead to cohesin-loading defects and thereby alter gene expression and second, NIPBL deficiency might affect genes directly via its role at the respective promoters.
Results show that NIPBL has a function in modulating chromatin architecture that is not dependent on SMC3 (show SMC3 Antibodies)/cohesin or CTCF (show CTCF Antibodies) in classical Cornelia de Lange syndrome.
This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (show HDAC8 Antibodies) mutations and PKR (show EIF2AK2 Antibodies) activation.
expression analysis of Smc1a (show SMC1A Antibodies) and Nipbl in developing mouse embryos reveals a specific pattern in the hindbrain
Nipbl+/- mutants are growth-retarded and exhibit various skeletal and craniofacial malformations.
In spermatocytes, Nipbl/Mau2 (show KIAA0892 Antibodies) then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest.
Reduction of Nipbl is associated with Cornelia de Lange Syndrome.
Mice heterozygous for a gene-trap mutation in Nipbl were produced and exhibited defects characteristic of Cornelia de Lange Syndrome.
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.
, sister chromatid cohesion establishment factor 2
, nipped-B homolog
, Nipped-B homolog (Drosophila)
, nipped-B like a
, nipped-B-like protein B
, nipped-B-like protein-like
, SCC2 homolog
, nipped-B-like protein
, sister chromatid cohesion 2 homolog
, delangin homolog