Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
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Inborn errors of the development of human natural killer cellsSTAT5 in hematopoietic stem cell biology and transplantationGrowth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b geneChemical and Hormonal Effects on STAT5b-Dependent Sexual Dimorphism of the Liver TranscriptomeImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.IGF-1 and bone: New discoveries from mouse modelsLoss of sexually dimorphic liver gene expression upon hepatocyte-specific deletion of Stat5a-Stat5b locusGenetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthThe STAT5b Pathway Defect and AutoimmunityInterpretation of cytokine signaling through the transcription factors STAT5A and STAT5BSTAT5B deficiency: Impacts on human growth and immunityEstrogens regulate the hepatic effects of growth hormone, a hormonal interplay with multiple fates.STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritabilityThe influence of estrogens on the biological and therapeutic actions of growth hormone in the liver.Sex differences in the expression of hepatic drug metabolizing enzymes.Bile acid-induced inflammatory signaling in mice lacking Foxa2 in the liver leads to activation of mTOR and age-onset obesity.The role of liver-derived insulin-like growth factor-I.Copy number variants in patients with short stature.[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
P2860
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P2860
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@en
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@nl
type
label
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@en
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@nl
prefLabel
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@en
Clinical and biochemical chara ...... el homozygous STAT5b mutation.
@nl
P2093
P356
P1476
Clinical and biochemical chara ...... vel homozygous STAT5b mutation
@en
P2093
Ferdinand Roelfsema
Hermine A van Duyvenvoorde
Jaap van Doorn
Johannes A Romijn
M Femke Kruithof
Marcel Karperien
Marie J E Walenkamp
Martijn H Breuning
Riny Janssen
P304
P356
10.1210/JC.2006-0368
P407
P577
2006-06-20T00:00:00Z