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NBAS encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain.
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NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure)
The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts
variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS.
A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure.
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Data indicate that expression of several predicted chimeric genes and genes with disrupted exon structure including ALK, NBAS, FHIT, PTPRD (显示 PTPRD 抗体) and ODZ4 (显示 TENM4 抗体) in neuroblastoma (显示 ARHGEF16 抗体).
DHX34 (显示 DHX34 抗体) and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets.
These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huet anomaly.
There may be a subset of NB in which enhanced DDX1 (显示 DDX1 抗体) and low-NAG (显示 NAGLU 抗体) expression consequent to DDX1 (显示 DDX1 抗体) co-amplification without NAG (显示 NAGLU 抗体) amplification contributes to susceptibility to intensive therapy.
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly.
, NAG/FAM49A fusion
, neuroblastoma-amplified gene protein
, neuroblastoma-amplified sequence
, neuroblastoma-amplified protein
, neuroblastoma amplified sequence
, neuroblastoma-amplified sequence-like
, neuroblastoma-amplified protein-like
, similar to neuroblastoma-amplified protein