A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
about
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsA homeobox gene, vax2, controls the patterning of the eye dorsoventral axisDollo's law and the death and resurrection of genesNELF is a nuclear protein involved in hypothalamic GnRH neuronal migrationWDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHeparan 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 activityCloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosomePoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeNovel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismKisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54.CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeHuman GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsReactive control of precision grip does not depend on fast transcortical reflex pathways in X-linked Kallmann subjectsMutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeDigenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismHypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Clinical and inheritance profiles of Kallmann syndrome in JordanCreation of non-human primate neurogenetic disease models by gene targeting and nuclear transferCell migration in the developing rodent olfactory systemCongenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureThe role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseThe genetic basis of female reproductive disorders: etiology and clinical testingEtiology and treatment of hypogonadism in adolescentsThe Regulation and Function of Fibroblast Growth Factor 8 and Its Function during Gonadotropin-Releasing Hormone Neuron DevelopmentA dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversalEtiology and treatment of hypogonadism in adolescentsIsolation of a partial candidate gene for Menkes disease by positional cloningTransforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cellsMolecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsCommentary: the year in endocrine genetics for basic scientistsThe neural recognition molecule L1 is a sialic acid-binding lectin for CD24, which induces promotion and inhibition of neurite outgrowthGenome-wide analysis of gene expression in primate taste buds reveals links to diverse processesFunctional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.Cellular signaling by fibroblast growth factors (FGFs) and their receptors (FGFRs) in male reproduction.Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
P2860
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P2860
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@ast
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en-gb
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@nl
type
label
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@ast
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en-gb
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@nl
prefLabel
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@ast
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en-gb
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@nl
P2093
P3181
P356
P1433
P1476
A gene deleted in Kallmann's s ...... axonal path-finding molecules
@en
P2093
A Ballabio
A Pragliola
C Lawrence
E Maestrini
G Camerino
H F Willard
P2888
P304
P3181
P356
10.1038/353529A0
P407
P577
1991-10-10T00:00:00Z
P6179
1002951926