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

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 28, 2011, Pages 11524-11529

  Tornberg, Janne ^a   Sykiotis, Gerasimos P ^b   Keefe, Kimberly ^b   Plummer, Lacey ^b   Hoang, Xuan ^b   Hall, Janet E ^b   Quinton, Richard ^c   Seminara, Stephanie B ^b   Hughes, Virginia ^b   Van Vliet, Guy ^d   Van Uum, Stan ^e   Crowley, William F ^b   Habuchi, Hiroko ^f   Kimata, Koji ^f   Pitteloud, Nelly ^b,g   Bülow, Hannes E ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITY OF WESTERN ONTARIO   (Canada)

^f AICHI MEDICAL UNIVERSITY   (Japan)

^g LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Heparan sulfotransferase; Kallmann syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; GONADORELIN; HEPARAN SULFATE; HEPARAN SULFATE 6 O SULFOTRANSFERASE 1; KAL 1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CAENORHABDITIS ELEGANS; CONTROLLED STUDY; ENZYME MODIFICATION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; IN VITRO STUDY; IN VIVO STUDY; MALE; MALE INFERTILITY; NERVE CELL DIFFERENTIATION; NONHUMAN; PRIORITY JOURNAL; PUBERTY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CAENORHABDITIS ELEGANS; CAENORHABDITIS ELEGANS PROTEINS; CHILD; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, HELMINTH; HUMANS; HYPOGONADISM; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KALLMANN SYNDROME; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; SULFOTRANSFERASES;

CAENORHABDITIS ELEGANS;

EID: 79960986103     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1102284108     Document Type: Article

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