NIPBL


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AcronymDefinition
NIPBLNipped-B-Like (Delangin homolog)
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References in periodicals archive ?
YND paneli ile tani alan olgularin ucunde, Fanconi anemisi ile iliskili FANCA (n:2) ve BRIP1 (n:1) genlerinde, bir olguda CdLS ile iliskili NIPBL geninde ve bir olguda ise Roberts sendromu ile iliskili ESCO2 geninde mutasyon saptandi.
Cornelia de Lange sendromu klinik tanili olgu RID-3'te saptanan NIPBL genindeki c.
Gillis et al .[3] showed significant differences between patients with and without NIPBL mutations by genotype-phenotype correlation study.
In conclusion, a novel missense mutation has been identified in NIPBL by WES.
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
A NIPBL mutation is found in 80% of these cases and results in more severe clinical problems in comparison to the other genes.
Cornelia de Lange syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
The expression of seven genes was negatively associated with MNBN (none with MNMONO), namely SMC1A, LATS2, TRIM13, PDCD11, CD28, IL7R, and NIPBL. The expression of these particular genes has previously been shown to be affected by one or more genotoxic carcinogens in experimental models (Mattingly et al.
NIPBL was associated with AR CALUX[R], which measures compounds with androgenic activity.
Recruitment of the cohesin loading factor NIPBL to DNA double-strand breaks depends on MDC1, RNF168 and HP1y in human cells.
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.