TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Nature Genetics

Volumn 41, Issue 3, 2009, Pages 354-358

  Topaloglu, A Kemal ^a   Reimann, Frank ^b   Guclu, Metin ^c   Yalin, Ayse Serap ^d   Kotan, L Damla ^a   Porter, Keith M ^b   Serin, Ayse ^a   Mungan, Neslihan O ^a   Cook, Joshua R ^b   Ozbek, Mehmet N ^a   Imamoglu, Sazi ^c   Akalin, N Sema ^d   Yuksel, Bilgin ^a   O'Rahilly, Stephen ^b   Semple, Robert K ^b  

^a CUKUROVA UNIVERSITY   (Turkey)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c ULUDAG UNIVERSITY   (Turkey)

^d MARMARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GONADOTROPIN; KISSPEPTIN; LUTEINIZING HORMONE; NEUROKININ B; SEX HORMONE;

ARTICLE; CELL STRAIN HEK293; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENITAL SYSTEM; GONAD FUNCTION; GONADOTROPIN DEFICIENCY; HOMOZYGOSITY; HORMONAL REGULATION; HORMONE RELEASE; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERINATAL DEVELOPMENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PUBERTY DISORDERS; REPRODUCTION; SEXUAL DEVELOPMENT; TAC3 GENE; TACR3 GENE;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; DNA MUTATIONAL ANALYSIS; FAMILY; GONADS; HUMANS; HYPOGONADISM; MODELS, BIOLOGICAL; MUTATION; NEUROKININ B; NEURONS; PEDIGREE; RECEPTORS, NEUROKININ-3; REPRODUCTION; SEQUENCE HOMOLOGY, AMINO ACID; TUMOR SUPPRESSOR PROTEINS;

EID: 61349091041     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.306     Document Type: Article

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