[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ILE-534.
DOI=10.1016/0092-8674(91)90193-3; PubMed=1913827 [NCBI, ExPASy, EBI, Israel, Japan]
Legouis R.,
Hardelin J.-P.,
Levilliers J.,
Claverie J.-M.,
Compain S.,
Wunderle V.,
Millasseau P.,
le Paslier D.,
Cohen D.,
Caterina D.,
Bougueleret L.,
Delemarre-Van de Waal H.,
Lutfalla G.,
Weissenbach J.,
Petit C.;
"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.";
Cell 67:423-435(1991).
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[2]
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SEQUENCE REVISION.
DOI=10.1038/ng1292-305; PubMed=1303284 [NCBI, ExPASy, EBI, Israel, Japan]
del Castillo I.,
Cohen-Salmon M.,
Blanchard S.,
Lutfalla G.,
Petit C.;
"Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.";
Nat. Genet. 2:305-310(1992).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ILE-534.
DOI=10.1038/353529a0; PubMed=1922361 [NCBI, ExPASy, EBI, Israel, Japan]
Franco B.,
Guioli S.,
Pragliola A.,
Inceri B.,
Bardoni B.,
Tonlorenzi R.,
Carrozo R.,
Maestrini E.,
Pieretti M.,
Taillon-Miller P.,
Brown C.J.,
Willard H.F.,
Lawrence C.,
Persico N.G.,
Camerino G.,
Ballabio A.;
"A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.";
Nature 353:529-536(1991).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/990031; PubMed=10591208 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham I.,
Hunt A.R.,
Collins J.E.,
Bruskiewich R.,
Beare D.M.,
Clamp M.,
Smink L.J.,
Ainscough R.,
Almeida J.P.,
Babbage A.K.,
Bagguley C.,
Bailey J.,
Barlow K.F.,
Bates K.N.,
Beasley O.P.,
Bird C.P.,
Blakey S.E.,
Bridgeman A.M.,
Buck D., ![]()
Burgess J.,
Burrill W.D.,
Burton J.,
Carder C.,
Carter N.P.,
Chen Y.,
Clark G.,
Clegg S.M.,
Cobley V.E.,
Cole C.G.,
Collier R.E.,
Connor R.,
Conroy D.,
Corby N.R.,
Coville G.J.,
Cox A.V.,
Davis J.,
Dawson E.,
Dhami P.D.,
Dockree C.,
Dodsworth S.J.,
Durbin R.M.,
Ellington A.G.,
Evans K.L.,
Fey J.M.,
Fleming K.,
French L.,
Garner A.A.,
Gilbert J.G.R.,
Goward M.E.,
Grafham D.V.,
Griffiths M.N.D.,
Hall C.,
Hall R.E.,
Hall-Tamlyn G.,
Heathcott R.W.,
Ho S.,
Holmes S.,
Hunt S.E.,
Jones M.C.,
Kershaw J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.F.,
Leversha M.A.,
Lloyd C.,
Lloyd D.M.,
Martyn I.D.,
Mashreghi-Mohammadi M.,
Matthews L.H.,
Mccann O.T.,
Mcclay J.,
Mclaren S.,
McMurray A.A.,
Milne S.A.,
Mortimore B.J.,
Odell C.N.,
Pavitt R.,
Pearce A.V.,
Pearson D.,
Phillimore B.J.C.T.,
Phillips S.H.,
Plumb R.W.,
Ramsay H.,
Ramsey Y.,
Rogers L.,
Ross M.T.,
Scott C.E.,
Sehra H.K.,
Skuce C.D.,
Smalley S.,
Smith M.L.,
Soderlund C.,
Spragon L.,
Steward C.A.,
Sulston J.E.,
Swann R.M.,
Vaudin M.,
Wall M.,
Wallis J.M.,
Whiteley M.N.,
Willey D.L.,
Williams L.,
Williams S.A.,
Williamson H.,
Wilmer T.E.,
Wilming L.,
Wright C.L.,
Hubbard T.,
Bentley D.R.,
Beck S.,
Rogers J.,
Shimizu N.,
Minoshima S.,
Kawasaki K.,
Sasaki T.,
Asakawa S.,
Kudoh J.,
Shintani A.,
Shibuya K.,
Yoshizaki Y.,
Aoki N.,
Mitsuyama S.,
Roe B.A.,
Chen F.,
Chu L.,
Crabtree J.,
Deschamps S.,
Do A.,
Do T.,
Dorman A.,
Fang F.,
Fu Y.,
Hu P.,
Hua A.,
Kenton S.,
Lai H.,
Lao H.I.,
Lewis J.,
Lewis S.,
Lin S.-P.,
Loh P.,
Malaj E.,
Nguyen T.,
Pan H.,
Phan S.,
Qi S.,
Qian Y.,
Ray L.,
Ren Q.,
Shaull S.,
Sloan D.,
Song L.,
Wang Q.,
Wang Y.,
Wang Z.,
White J.,
Willingham D.,
Wu H.,
Yao Z.,
Zhan M.,
Zhang G.,
Chissoe S.,
Murray J.,
Miller N.,
Minx P.,
Fulton R.,
Johnson D.,
Bemis G.,
Bentley D.,
Bradshaw H.,
Bourne S.,
Cordes M.,
Du Z.,
Fulton L.,
Goela D.,
Graves T.,
Hawkins J.,
Hinds K.,
Kemp K.,
Latreille P.,
Layman D.,
Ozersky P.,
Rohlfing T.,
Scheet P.,
Walker C.,
Wamsley A.,
Wohldmann P.,
Pepin K.,
Nelson J.,
Korf I.,
Bedell J.A.,
Hillier L.W.,
Mardis E.,
Waterston R.,
Wilson R.,
Emanuel B.S.,
Shaikh T.,
Kurahashi H.,
Saitta S.,
Budarf M.L.,
McDermid H.E.,
Johnson A.,
Wong A.C.C.,
Morrow B.E.,
Edelmann L.,
Kim U.J.,
Shizuya H.,
Simon M.I.,
Dumanski J.P.,
Peyrard M.,
Kedra D.,
Seroussi E.,
Fransson I.,
Tapia I.,
Bruder C.E.,
O'Brien K.P.,
Wilkinson P.,
Bodenteich A.,
Hartman K.,
Hu X.,
Khan A.S.,
Lane L.,
Tilahun Y.,
Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-71.
DOI=10.1016/0378-1119(95)00481-K; PubMed=7590336 [NCBI, ExPASy, EBI, Israel, Japan]
Cohen-Salmon M.,
Tronche F.,
del Castillo I.,
Petit C.;
"Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.";
Gene 164:235-242(1995).
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[6]
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CHARACTERIZATION.
PubMed=8832397 [NCBI, ExPASy, EBI, Israel, Japan]
Soussi-Yanicostas N.,
Hardelin J.-P.,
del Mar Arroyo-Jimenez M.,
Ardouin O.,
Legouis R.,
Levilliers J.,
Traincard F.,
Betton J.-M.,
Cabanie L.,
Petit C.;
"Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.";
J. Cell Sci. 109:1749-1757(1996).
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[7]
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VARIANT KAL1 LYS-267, AND VARIANT ILE-534.
DOI=10.1093/hmg/2.4.373; PubMed=8504298 [NCBI, ExPASy, EBI, Israel, Japan]
Hardelin J.-P.,
Levilliers J.,
Blanchard S.,
Carel J.-C.,
Leutenegger M.,
Pinard-Bertelletto J.-P.,
Bouloux P.,
Petit C.;
"Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.";
Hum. Mol. Genet. 2:373-377(1993).
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[8]
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VARIANT KAL1 LEU-517, AND VARIANTS ILE-534 AND HIS-668.
DOI=10.1210/jc.82.1.213; PubMed=8989261 [NCBI, ExPASy, EBI, Israel, Japan]
Georgopoulos N.A.,
Pralong F.P.,
Seidman C.E.,
Seidman J.G.,
Crowley W.F. Jr.,
Vallejo M.;
"Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.";
J. Clin. Endocrinol. Metab. 82:213-217(1997).
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[9]
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VARIANT KAL1 LYS-514, AND VARIANT ILE-534.
DOI=10.1210/jc.83.5.1650; PubMed=9589672 [NCBI, ExPASy, EBI, Israel, Japan]
Maya-Nunez G.,
Zenteno J.C.,
Ulloa-Aguirre A.,
Kofman-Alfaro S.,
Mendez J.P.;
"A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.";
J. Clin. Endocrinol. Metab. 83:1650-1653(1998).
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[10]
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VARIANT KAL1 ARG-172, AND VARIANT ILE-534.
DOI=10.1210/jc.86.4.1532; PubMed=11297579 [NCBI, ExPASy, EBI, Israel, Japan]
Oliveira L.M.B.,
Seminara S.B.,
Beranova M.,
Hayes F.J.,
Valkenburgh S.B.,
Schipani E.,
Costa E.M.F.,
Latronico A.C.,
Crowley W.F. Jr.,
Vallejo M.;
"The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.";
J. Clin. Endocrinol. Metab. 86:1532-1538(2001).
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[11]
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CHARACTERIZATION OF VARIANTS KAL1 LYS-267; LYS-514 AND LEU-517.
DOI=10.1093/hmg/ddh309; PubMed=15471890 [NCBI, ExPASy, EBI, Israel, Japan]
Cariboni A.,
Pimpinelli F.,
Colamarino S.,
Zaninetti R.,
Piccolella M.,
Rumio C.,
Piva F.,
Rugarli E.I.,
Maggi R.;
"The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.";
Hum. Mol. Genet. 13:2781-2791(2004).
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[12]
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VARIANT KAL1 TYR-163, AND VARIANT ILE-534.
DOI=10.1210/jc.2003-030476; PubMed=15001591 [NCBI, ExPASy, EBI, Israel, Japan]
Sato N.,
Katsumata N.,
Kagami M.,
Hasegawa T.,
Hori N.,
Kawakita S.,
Minowada S.,
Shimotsuka A.,
Shishiba Y.,
Yokozawa M.,
Yasuda T.,
Nagasaki K.,
Hasegawa D.,
Hasegawa Y.,
Tachibana K.,
Naiki Y.,
Horikawa R.,
Tanaka T.,
Ogata T.;
"Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.";
J. Clin. Endocrinol. Metab. 89:1079-1088(2004).
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[13]
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VARIANTS KAL1 PRO-262 AND ARG-571.
DOI=10.1002/humu.9298; PubMed=15605412 [NCBI, ExPASy, EBI, Israel, Japan]
Albuisson J.,
Pecheux C.,
Carel J.-C.,
Lacombe D.,
Leheup B.,
Lapuzina P.,
Bouchard P.,
Legius E.,
Matthijs G.,
Wasniewska M.,
Delpech M.,
Young J.,
Hardelin J.-P.,
Dode C.;
"Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).";
Hum. Mutat. 25:98-99(2005).
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[14]
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VARIANT KAL1 LEU-396.
DOI=10.1371/journal.pgen.0020175; PubMed=17054399 [NCBI, ExPASy, EBI, Israel, Japan]
Dode C.,
Teixeira L.,
Levilliers J.,
Fouveaut C.,
Bouchard P.,
Kottler M.-L.,
Lespinasse J.,
Lienhardt-Roussie A.,
Mathieu M.,
Moerman A.,
Morgan G.,
Murat A.,
Toublanc J.-E.,
Wolczynski S.,
Delpech M.,
Petit C.,
Young J.,
Hardelin J.-P.;
"Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.";
PLoS Genet. 2:1648-1652(2006).
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[15]
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VARIANT KAL1 SER-304, AND VARIANT ILE-534.
DOI=10.1111/j.1365-2265.2006.02702.x; PubMed=17223984 [NCBI, ExPASy, EBI, Israel, Japan]
Versiani B.R.,
Trarbach E.,
Koenigkam-Santos M.,
dos Santos A.C.,
Elias L.L.K.,
Moreira A.C.,
Latronico A.C.,
de Castro M.;
"Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.";
Clin. Endocrinol. (Oxf.) 66:173-179(2007).
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[16]
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VARIANT KAL1 CYS-163 DEL, AND VARIANTS MET-666 AND HIS-668.
DOI=10.1093/molehr/gal108; PubMed=17213338 [NCBI, ExPASy, EBI, Israel, Japan]
Bhagavath B.,
Xu N.,
Ozata M.,
Rosenfield R.L.,
Bick D.P.,
Sherins R.J.,
Layman L.C.;
"KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.";
Mol. Hum. Reprod. 13:165-170(2007).
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