Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly
about
DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegansMechanism and regulation of the nonsense-mediated decay pathwayMoonlighting functions of the NRZ (mammalian Dsl1) complexMutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsNovel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective studyGenome-wide association study of recalcitrant atopic dermatitis in Korean children.Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.HacDivSel: Two new methods (haplotype-based and outlier-based) for the detection of divergent selection in pairs of populations.Frequency distribution of polymorphisms of CYP2C19, CYP2C9, VKORC1 and SLCO1B1 genes in the Yakut populationRecurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.NBAS mutations cause acute liver failure: when acetaminophen is not a culpritNeuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.Etiologies of uterine malformations.
P2860
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P2860
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly
description
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
@ast
im August 2010 veröffentlicher wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/08/01)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/08/01)
@nl
наукова стаття, опублікована в серпні 2010
@uk
مقالة علمية (نشرت في أغسطس 2010)
@ar
name
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@ast
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@en
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@nl
type
label
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@ast
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@en
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@nl
prefLabel
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@ast
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@en
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@nl
P2093
P2860
P356
P1476
Neuroblastoma amplified sequen ...... trophy and Pelger-Huët anomaly
@en
P2093
Aitalina Sukhomyasova
Akinori Miyashita
Anna Nogovicina
Hiroshi Fujiwara
Hitoshi Takahashi
Irina Nikolaeva
Kenju Hara
Masatoyo Nishizawa
Mineo Takagi
Ryozo Kuwano
P2860
P304
P356
10.1136/JMG.2009.074815
P407
P577
2010-08-01T00:00:00Z