Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
about
Functional studies on the ATM intronic splicing processing elementMutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Insulin enhances growth hormone induction of the MEK/ERK signaling pathwayNNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.Genomic variants in exons and introns: identifying the splicing spoilers.Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthDefective splicing, disease and therapy: searching for master checkpoints in exon definition.Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Role of pseudoexons and pseudointrons in human cancer.Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.Deep intronic mutations and human disease.Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon.[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.Final height in patients with idiopathic short stature and high growth hormone responses to stimulation tests.Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.Insulin reverses growth hormone-induced homologous desensitization.Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity.
P2860
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P2860
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@ast
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@en
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@nl
type
label
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@ast
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@en
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@nl
prefLabel
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@ast
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@en
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@nl
P2093
P2860
P356
P1476
Pseudoexon activation as a nov ...... l growth-hormone insensitivity
@en
P2093
P2860
P304
P356
10.1086/323266
P407
P577
2001-07-20T00:00:00Z