X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
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Transforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cellsExogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadismNovel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.Decreased expression of Kallmann syndrome 1 sequence gene (KAL1) contributes to oral squamous cell carcinoma progression and significantly correlates with poorly differentiated grade.Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.ERK1/2 signaling is essential for the chemoattraction exerted by human FGF2 and human anosmin-1 on newborn rat and mouse OPCs via FGFR1.Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
P2860
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P2860
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 08 April 2011
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@en
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@nl
type
label
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@en
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@nl
prefLabel
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@en
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@nl
P1476
X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
@en
P2093
Pierre-Marc Bouloux
P356
10.1016/J.MCE.2011.04.001
P577
2011-04-08T00:00:00Z