SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome - Wikidata - wikimedia - TriplyDB

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

http://www.wikidata.org/entity/Q34395316

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Brain endothelial cells control fertility through ovarian-steroid-dependent release of semaphorin 3A Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future Central hypogonadotropic hypogonadism: genetic complexity of a complex disease The genetic basis of female reproductive disorders: etiology and clinical testing Control of cellular motility by neuropilin-mediated physical interactions The Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development NELF knockout is associated with impaired pubertal development and subfertility.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.Mutations in FEZF1 cause Kallmann syndrome GnRH, anosmia and hypogonadotropic hypogonadism--where are we?Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.The quest for the identification of genetic variants in unexplained cardiac arrest and idiopathic ventricular fibrillation.Effect of C-terminal sequence on competitive semaphorin binding to neuropilin-1 Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.Exome sequencing for the diagnosis of 46,XY disorders of sex development.Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Neuropilin Functions as an Essential Cell Surface Receptor.PROK2/PROKR2 Signaling and Kallmann Syndrome.Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness Semaphorin signaling in the development and function of the gonadotropin hormone-releasing hormone system.Pubertal development and regulation.Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Semaphorin3a signaling, podocyte shape, and glomerular disease.Olfactory system and demyelination.Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.The loss of scents: do defects in olfactory sensory neuron development underlie human disease?Genetic, environmental, and epigenetic factors involved in CAKUT.GnRH and GnRH receptors in the pathophysiology of the human female reproductive system.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Renal agenesis in Kallmann syndrome: a network approach.Fertility and fragrance: another cause of Kallmann syndrome.Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs.Mechanistic basis for the potent anti-angiogenic activity of semaphorin 3F

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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

http://www.wikidata.org/entity/Q34395316

description

2012 nî lūn-bûn

@nan

2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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JOURNAL.PGEN.1002896

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SEMA3A, a gene involved in axo ...... atients with Kallmann syndrome

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Alfons García-Piñero

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Catherine Dodé

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Chantal Metz

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Charlotte Vanacker

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Chrystel Leroy

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Corinne Cruaud

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Corinne Fouveaut

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Cécile Espy

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Céline Campagne

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Didier Dewailly

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P2860

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

From nose to brain: development of gonadotrophin-releasing hormone-1 neurones

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Neuropilin-1 conveys semaphorin and VEGF signaling during neural and cardiovascular development

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e1002896

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10.1371/JOURNAL.PGEN.1002896

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8

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8

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Christine Cortet-Rudelli

Jean-Pierre Hardelin

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2012-08-23T00:00:00Z

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230750106

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22927827

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3426548

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