Recombinant Human Nipped-B-like protein (NIPBL), partial

1. Mutations in NIPBL result in the dysregulation of many genes responsible for normal heart development likely resulting in the variety of structural cardiac defects observed in the CdLS population. PMID: 29348408
2. Frameshift Mutation in NIPBL gene is associated with Cornelia de Lange Syndrome. PMID: 29531005
3. In Chinese patients with Cornelia de Lange syndrome, a heterozygous mutation in exon 20 of the NIPBL gene in proband 2, and a heterozygous mutation in intron 38 of the NIPBL gene in proband 3 were found, and RT-PCR revealed a splicing mutation in exon 38, generating both normal transcript and an aberrant alternatively spliced transcript with exon 38 deletion. PMID: 29452578
4. Downregulation of cohesin loading factor NIPBL arrested breast cancer cells in vitro in the G0/G1 phase of the cell cycle and induced apoptosis and autophagy. PMID: 28987049
5. Using fluorescence recovery after photobleaching (FRAP) and single-molecule tracking in human cells, the authors show that Scc2 binds dynamically to chromatin, principally through an association with cohesin. PMID: 28914604
6. Authors have identified a novel distal enhancer regulating both NIPBL and NIPBL-AS1. PMID: 29261648
7. Nipbl seems to have also additional roles, for instance as transcription factor.This chapter summarizes our current knowledge on kollerin function and the recent studies on the genomic localization of Scc2, highlighting and critically discussing controversial data. PMID: 27797076
8. The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for. PMID: 28425213
9. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes. PMID: 28548707
10. 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. PMID: 28167679
11. 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. PMID: 26701315
12. Pathological variant specific of the isoform A of NIPBL was identified in two patients with Cornelia de Lange Syndrome. PMID: 28241484
13. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript PMID: 26925417
14. NIPBL gene mutation is associated with Thrombocytopenia in Cornelia de Lange syndrome. PMID: 26437745
15. This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 mutations and PKR activation. PMID: 26725122
16. NIPBL expression conferred poor prognosis and resistance to chemotherapy in non-small cell lung cancer PMID: 25963978
17. 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. PMID: 26176819
18. There was an increased frequncy of NIPBL mutations in a cohort of prenatal ultrasound detected phenotypes of Cornelia de Lange syndrome. PMID: 24218399
19. A new Sanger sequencing reveals new hidden mutations in NIPBL gene not detected with conventional approach. PMID: 25196272
20. analysis of the mutation spectrum of NIPBL in in Chinese patients with Cornelia de Lange syndrome PMID: 25447906
21. 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. PMID: 24918291
22. 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. PMID: 24550742
23. Results show that NIPBL has a function in modulating chromatin architecture that is not dependent on SMC3/cohesin or CTCF in classical Cornelia de Lange syndrome. PMID: 23760082
24. Letter/Case Report: novel NIPBL mutation giving rise to Cornelia de Lange syndrome and intrauterine fetal death. PMID: 24189319
25. Canonical WNT pathway and CCND1 downregulation was observed in NIPBL-mutated patient-specific fibroblasts. PMID: 24136230
26. In B cells from Cornelia de Lange Syndrome, found strong correlation between heterozygous loss-of-function mutations in cohesin loading protein NIPBL and a shift toward microhomology-based end joining during IG class switch recombination. PMID: 24145515
27. These data suggest that NBPBL is frequently inactived in gastric and colorectal neoplasms with microsatellite instability. PMID: 23912250
28. In the present study, conducted on a group of 64 unrelated Polish Cornelia de Lange syndrome patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. PMID: 23254390
29. Somatic mosaicism for an NIPBL mutation is frequent (10/44; 23%) clinically in reliably diagnosed Cornelia de Lange syndrome individuals. PMID: 23505322
30. NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have congenital heart diseases in Cornelia de lange syndrome. PMID: 22965847
31. The mutational analysis in Chinese patients with Cornelia de Lange syndrome revealed splice-site mutations in NIPBL in 2 out of 4 patients. PMID: 22857006
32. Large deletions/duplications in the NIPBL gene are detected in Cornelia de Lange patients. PMID: 22353942
33. 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. PMID: 22241092
34. In patient with Cornelia de Lange syndrome, a large deletion encompassing exons 35 to 47 of the NIPBL gene was identified. PMID: 20727427
35. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. PMID: 20824775
36. The identification of 14 additional mutations of the cohesin complex genes NIPBL and SMC1A in a cohort of 30 unrelated patients with Cornelia de Lange syndrome, is reported. PMID: 20358602
37. NIPBL mutation is associated with Cornelia de Lange syndrome. PMID: 20124326
38. identified mutations in one gene, NIPBL, in four sporadic and two familial cases of Cornelia de Lange syndrome PMID: 15146186
39. results show that NIPBL mutations are present in only 35% of Cornelia de Lange syndrome cases, strongly suggesting the genetic heterogeneity of this syndrome PMID: 15591270
40. Mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause De Lange syndrome. PMID: 16236812
41. So far, two genes (NIPBL and SMC1L1) have been identified causing Cornelia de Lange syndrome (CdLS) or CdLS-like phenotypes. PMID: 17106445
42. Large NIPBL deletion in a patient with Cornelia de Lange Syndrome. PMID: 17264868
43. NIPBL mutations in Cornelia de Lange syndrome: truncating, splice-site, missense, in-frame deletion & regulatory; truncating mutations most frequent in patients with high clinical score; most splice-site & all missense mutations in low-medium score group PMID: 17661813
44. This study identified duplications Cornelia de Lange syndrome (CdLS) on chromosomes 5 or X using genome wide array comparative genomic hybridisation (aCGH). The duplicated regions contain either the NIPBL or the SMC1A genes. PMID: 19052029
45. Transcription in severely affected Cornelia de Lange Syndrome probands has identified a unique profile of dysregulated gene expression that correlates with phenotypic severity. PMID: 19468298

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HGNC: 28862

OMIM: 122470

KEGG: hsa:25836

STRING: 9606.ENSP00000282516

UniGene: Hs.481927