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Nipbl and mediator cooperatively regulate gene expression to control limb development.
The present s (show WNT2 Proteins)tudy focuses on th (show CCND1 Proteins)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 Proteins) and provides a substrate for cardiac precursor migration, as well as genes that regulate left-right asymmetry
NIPBL has evolved a sophisticated response to damaged DNA that is influenced by the form of damage, suggesting a highly dynamic role for NIPBL in maintaining genomic stability.
Study identifies four likely Tourette disorder risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1 (show WWC1 Proteins)), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3 (show CELSR3 Proteins)), NIPBL (Nipped (show RPL38 Proteins)-B-like), and FN1 (fibronectin 1 (show FN1 Proteins)).
37 novel nipped-B-like protein (NIPBL) mutations were identified in Cornelia de Lange syndrome patients, including 34 in leukocytes and 3 in buccal cells only.
Pathological variant specific of the isoform A of NIPBL was identified in two patients with Cornelia de Lange Syndrome.
Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript
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 Proteins) mutations and PKR (show PKLR Proteins) 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.
Depletion of Zfp609 or Nipbl from cortical neural progenitors in vivo is detrimental to neuronal migration. Zfp609 and Nipbl overlap at genomic binding sites independently of cohesin and regulate genes that control cortical neuron migration.
Nipbl transgenic mice display large atrial septal defects.
This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (show HDAC8 Proteins) mutations and PKR (show EIF2AK2 Proteins) activation.
expression analysis of Smc1a (show SMC1A Proteins) 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 Proteins) 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