Kallmann's syndrome: Molecular pathogenesis

International Journal of Biochemistry and Cell Biology

Volumn 35, Issue 8, 2003, Pages 1157-1162

  Hu, Youli ^a   Tanriverdi, Fatih ^a   MacColl, Gavin S ^a   Bouloux, Pierre Marc G ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Anosmin 1; Heparan sulphate proteoglycan; Kallmann's syndrome

Indexed keywords

ANOSMIN 1; FIBRONECTIN; HEPARAN 6 O SULFOTRANSFERASE; PROTEIN; TRANSFERASE; UNCLASSIFIED DRUG; WHEY ACIDIC PROTEIN;

ANOSMIA; CAENORHABDITIS ELEGANS; GENE FUNCTION; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PARAMETERS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; INCIDENCE; INHERITANCE; KALLMANN SYNDROME; MOLECULAR BIOLOGY; MORPHOGENESIS; NERVE FIBER; NERVE FIBER GROWTH; NEUROLOGIC DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; REVIEW; RODENT; TAIL; WHEY; X CHROMOSOME LINKAGE;

CAENORHABDITIS ELEGANS; RODENTIA;

EID: 0038363985     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-2725(02)00395-3     Document Type: Short Survey

References (9)

1. Bulow H.E., Berry K.L., Topper L.H., Peles E., Hobert O. Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. Proceedings of the National Academy of Sciences of the United States of America. 99:2002;6346-6351.
2. Kallmann F.J., Schoenfeld W.A., Barrere S.E. The genetic aspects of primary eunuchoidism. American Journal of Mental Deficiency. XLVIII:1944;203-236.
3. Larsen M., Ressler S.J., Lu B., Gerdes M.J., McBride L., Dang T.D., Rowley D.R. Molecular cloning and expression of ps20 growth inhibitor. A novel WAP-type "four disulfide core" domain protein expressed in smooth muscle. Journal of Biological Chemistry. 273:1998;4574-4584.
4. MacColl G., Quinton R., Bouloux P.M. GnRH neuronal development: Insights into hypogonadotrophic hypogonadism. Trends in Endocrinology and Metabolism. 13:2002;112-118.
5. Oliveira L.M., Seminara S.B., Beranova M., Hayes F.J., Valkenburgh S.B., Schipani E., Costa E.M., Latronico A.C., Crowley W.F. Jr., Vallejo M. The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics. Journal of Clinical Endocrinology and Metabolism. 86:2001;1532-1538.
6. Robertson A., MacColl G.S., Nash J.A., Boehm M.K., Perkins S.J., Bouloux P.M. Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1. Journal of Biochemistry. 357:2001;647-659.
7. Rugarli E.I., Di Schiavi E., Hilliard M.A., Arbucci S., Ghezzi C., Facciolli A., Coppola G., Ballabio A., Bazzicalupo P. The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development. 129:2002;1283-1294.
8. Soussi-Yanicostas N., de Castro F., Julliard A.K., Perfettini I., Chedotal A., Petit C. Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell. 109:2002;217-228.
9. Walsh F.S., Doherty P. Neural cell adhesion molecules of the immunoglobulin superfamily: Role in axon growth and guidance. Annual Review of Cell and Developmental Biology. 13:1997;425-456.