Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Brioude, Frédéric ^a,b,f   Bouligand, Jérôme ^a,b,c   Francou, Bruno ^a,b,c   Fagart, Jérôme ^a,b   Roussel, Ronan ^d,e   Viengchareun, Say ^a,b   Combettes, Laurent ^b   Brailly Tabard, Sylvie ^a,b,c   Lombès, Marc ^a,b,c   Young, Jacques ^a,b,c   Guiochon Mantel, Anne ^a,b,c  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b INSERM   (France)

^c BICÊTRE HOSPITAL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e BICHAT HOSPITAL   (France)

^f ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOCRINE GLAND DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; LUTEINIZING HORMONE; MITOGEN ACTIVATED PROTEIN KINASE; TYROSINE;

ADULT; ANOSMIA; ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CONGENITAL DISORDER; CONGENITAL HYPOGONADOTROPIC HYPOGONADISM; CONSANGUINITY; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVATION; FEMALE; GENE MUTATION; GONADOTROPIN DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; MISSENSE MUTATION; MUTAGENESIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PROTEIN CONFORMATION; PROTEIN DOMAIN; SIGNAL TRANSDUCTION; SPERMATOGENESIS; SPONTANEOUS ABORTION; WESTERN BLOTTING;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CALCIUM; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; HYPOGONADISM; KISSPEPTINS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHORYLATION; PROTEIN CONFORMATION; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84872507024     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0053896     Document Type: Article

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