Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

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Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

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type

Item

label

Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

@en

Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

@nl

prefLabel

Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

@en

Novel Dominant-Negative GH Rec ...... m of GHI and IGF-I Deficiency.

@nl

P1476

Novel Dominant-Negative GH Rec ...... um of GHI and IGF-I Deficiency

@en

P2093

Alessia David

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Andrew Dauber

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Jaime Sánchez Del Pozo

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Javier Aisenberg

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Lina Merjaneh

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Martin O Savage

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Merve Emecen Sanli

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Paula Casano-Sancho

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Philippe F Backeljauw

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Ron G Rosenfeld

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P2860

Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003

Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

Ligand-independent growth hormone receptor dimerization occurs in the endoplasmic reticulum and is required for ubiquitin system-dependent endocytosis

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

Growth hormone stimulates transcription of the gene encoding the acid-labile subunit (ALS) of the circulating insulin-like growth factor-binding protein complex and ALS promoter activity in rat liver.

Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

P304

345-358

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scholarly article

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10.1210/JS.2016-1119

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Lou Metherell

Kanimozhi Vairamani

P577

2017-03-08T00:00:00Z

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P698

29188236

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5686656

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