An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
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Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonUsing co-occurrence network structure to extract synonymous gene and protein names from MEDLINE abstractsDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseSpontaneous rescue from cystic fibrosis in a mouse model.Prediction of disease-related mutations affecting protein localization.Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutationEvidence of adrenal failure in aging Dax1-deficient mice.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.Inherited adrenal hypoplasia: not just for kids!Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.The adrenal.Mechanisms of Disease: normal and abnormal gonadal development and sex determination in mammals.Human SNPs resulting in premature stop codons and protein truncation.Clinical manifestations of impaired GnRH neuron development and function.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.Genetic disorders of nuclear receptors.A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis.NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadismPartial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenitaRole of Orphan Nuclear Receptor DAX-1/NR0B1 in Development, Physiology, and Disease
P2860
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P2860
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
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2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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name
An alternate translation initi ...... adrenal hypoplasia congenita.
@en
An alternate translation initi ...... adrenal hypoplasia congenita.
@nl
type
label
An alternate translation initi ...... adrenal hypoplasia congenita.
@en
An alternate translation initi ...... adrenal hypoplasia congenita.
@nl
prefLabel
An alternate translation initi ...... adrenal hypoplasia congenita.
@en
An alternate translation initi ...... adrenal hypoplasia congenita.
@nl
P2093
P50
P356
P1476
An alternate translation initi ...... adrenal hypoplasia congenita.
@en
P2093
Anna Spada
Gokhan Ozisik
J Larry Jameson
Jeffrey Weiss
P304
P356
10.1210/JC.2002-021034
P407
P577
2003-01-01T00:00:00Z