The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadismPROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activityNovel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseThe role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsThe Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadismVEGF signalling controls GnRH neuron survival via NRP1 independently of KDR and blood vesselsWhole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome.Hypogonadotropic Hypogonadism due to Novel FGFR1 MutationsGnRH signaling, the gonadotrope and endocrine control of fertility.Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in traffickingMutations in FEZF1 cause Kallmann syndromeDiagnosis of diseases of steroid hormone production, metabolism and action.Study of smell and reproductive organs in a mouse model for CHARGE syndrome.A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.GnRH, anosmia and hypogonadotropic hypogonadism--where are we?The consequences of mutations in the reproductive endocrine system.Evidence of olfactory deficits as part of the phenotypic spectrum of nonsyndromic orofacial clefting.Chromodomain proteins in development: lessons from CHARGE syndrome.Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.The puzzles of the prokineticin 2 pathway in human reproductionIsolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal networkOlfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implicationsKallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.Ataxia and focal dystonia in Kallmann syndromeDistinct 3-O-sulfated heparan sulfate modification patterns are required for kal-1-dependent neurite branching in a context-dependent manner in Caenorhabditis elegans.Ontogenesis of gonadotropin-releasing hormone neurons: a model for hypothalamic neuroendocrine cell development.Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants.Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.Dominance and interloci interactions in transcriptional activation cascades: models explaining compensatory mutations and inheritance patterns.Gene Targeting in Neuroendocrinology.Renal agenesis in Kallmann syndrome: a network approach.Anosmia-A Clinical Review.Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons.Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies.
P2860
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P2860
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@en
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@nl
type
label
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@en
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@nl
prefLabel
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@en
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@nl
P356
P1433
P1476
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
@en
P2093
P304
P356
10.1159/000152034
P577
2008-11-05T00:00:00Z