{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:22:25Z","timestamp":1790670145915,"version":"4.1.0"},"reference-count":53,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular and Cellular Endocrinology"],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1016\/j.mce.2011.04.001","type":"journal-article","created":{"date-parts":[[2011,4,15]],"date-time":"2011-04-15T20:51:01Z","timestamp":1302900661000},"page":"13-20","source":"Crossref","is-referenced-by-count":26,"title":["X-linked GnRH deficiency: Role of KAL-1 mutations in GnRH deficiency"],"prefix":"10.1016","volume":"346","author":[{"given":"Youli","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Marc","family":"Bouloux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mce.2011.04.001_b0005","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1471-2156-7-47","article-title":"Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1","volume":"7","author":"Andrenacci","year":"2006","journal-title":"BMC Genet."},{"key":"10.1016\/j.mce.2011.04.001_b0010","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000314193","article-title":"Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons","volume":"92","author":"Balasubramanian","year":"2010","journal-title":"Neuroendocrinology"},{"key":"10.1016\/j.mce.2011.04.001_b0015","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/nrendo.2009.177","article-title":"The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism","volume":"5","author":"Bianco","year":"2009","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0020","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/S0896-6273(04)00084-4","article-title":"Differential sulfations and epimerization define heparan sulfate specificity in nervous system development","volume":"41","author":"Bulow","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.mce.2011.04.001_b0025","doi-asserted-by":"crossref","first-page":"6346","DOI":"10.1073\/pnas.092128099","article-title":"Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1","volume":"99","author":"Bulow","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mce.2011.04.001_b0030","doi-asserted-by":"crossref","first-page":"2781","DOI":"10.1093\/hmg\/ddh309","article-title":"The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons","volume":"13","author":"Cariboni","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mce.2011.04.001_b0035","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.tins.2007.09.002","article-title":"From nose to fertility: the long migratory journey of gonadotropin-releasing hormone neurons","volume":"30","author":"Cariboni","year":"2007","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.mce.2011.04.001_b0040","doi-asserted-by":"crossref","first-page":"4997","DOI":"10.1210\/en.2007-1634","article-title":"Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons","volume":"149","author":"Chung","year":"2008","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2011.04.001_b0045","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1056\/NEJM199711273372205","article-title":"A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor","volume":"337","author":"de Roux","year":"1997","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mce.2011.04.001_b0050","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0165-3806(02)00544-8","article-title":"Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal","volume":"140","author":"Dellovade","year":"2003","journal-title":"Brain Res. Dev. Brain Res."},{"key":"10.1016\/j.mce.2011.04.001_b0055","doi-asserted-by":"crossref","first-page":"e175","DOI":"10.1371\/journal.pgen.0020175","article-title":"Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2","volume":"2","author":"Dode","year":"2006","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mce.2011.04.001_b0060","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/0303-7207(95)03518-C","article-title":"KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development","volume":"110","author":"Duke","year":"1995","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0065","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.cytogfr.2005.01.001","article-title":"Cellular signaling by fibroblast growth factor receptors","volume":"16","author":"Eswarakumar","year":"2005","journal-title":"Cytokine Growth Factor Rev."},{"key":"10.1016\/j.mce.2011.04.001_b0070","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1172\/JCI34538","article-title":"Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice","volume":"118","author":"Falardeau","year":"2008","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mce.2011.04.001_b0075","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/353529a0","article-title":"A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules","volume":"353","author":"Franco","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.mce.2011.04.001_b0080","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1523\/JNEUROSCI.4979-06.2007","article-title":"Hepatocyte growth factor acts as a motogen and guidance signal for gonadotropin hormone-releasing hormone-1 neuronal migration","volume":"27","author":"Giacobini","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mce.2011.04.001_b0085","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.yfrne.2004.06.001","article-title":"Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome","volume":"25","author":"Gonzalez-Martinez","year":"2004","journal-title":"Front Neuroendocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0090","doi-asserted-by":"crossref","first-page":"10384","DOI":"10.1523\/JNEUROSCI.3400-04.2004","article-title":"Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism","volume":"24","author":"Gonzalez-Martinez","year":"2004","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mce.2011.04.001_b0095","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1016\/S0960-9822(00)80060-3","article-title":"Fibroblast growth factor receptor signalling is dictated by specific heparan sulphate saccharides","volume":"9","author":"Guimond","year":"1999","journal-title":"Curr. Biol."},{"key":"10.1016\/j.mce.2011.04.001_b0100","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/hmg\/2.4.373","article-title":"Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome","volume":"2","author":"Hardelin","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mce.2011.04.001_b0105","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/(SICI)1097-0177(199905)215:1<26::AID-DVDY4>3.0.CO;2-D","article-title":"Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome","volume":"215","author":"Hardelin","year":"1999","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.mce.2011.04.001_b0110","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1056\/NEJM198211113072003","article-title":"Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone","volume":"307","author":"Hoffman","year":"1982","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mce.2011.04.001_b0115","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.tem.2010.01.004","article-title":"Novel insights in FGFR1 regulation: lessons from Kallmann syndrome","volume":"21","author":"Hu","year":"2010","journal-title":"Trends Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0120","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1042\/BJ20041078","article-title":"Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator","volume":"384","author":"Hu","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.mce.2011.04.001_b0125","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.jmb.2005.04.031","article-title":"Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling","volume":"350","author":"Hu","year":"2005","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mce.2011.04.001_b0130","doi-asserted-by":"crossref","first-page":"29905","DOI":"10.1074\/jbc.M109.049155","article-title":"Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1","volume":"284","author":"Hu","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2011.04.001_b0135","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1365-2826.2007.01627.x","article-title":"Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome","volume":"20","author":"Kim","year":"2008","journal-title":"J. Neuroendocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0140","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0092-8674(91)90193-3","article-title":"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules","volume":"67","author":"Legouis","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.mce.2011.04.001_b0145","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1093\/hmg\/3.10.1717","article-title":"Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo","volume":"3","author":"Lutz","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mce.2011.04.001_b0150","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S1043-2760(01)00545-8","article-title":"GnRH neuronal development: insights into hypogonadotrophic hypogonadism","volume":"13","author":"Maccoll","year":"2002","journal-title":"Trends Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0155","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1530\/eje.0.1430783","article-title":"A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome","volume":"143","author":"Matsuo","year":"2000","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0160","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1111\/j.1471-4159.2010.07024.x","article-title":"Biochemical dissection of Anosmin-1 interaction with FGFR1 and components of the extracellular matrix","volume":"115","author":"Murcia-Belmonte","year":"2010","journal-title":"J. Neurochem."},{"key":"10.1016\/j.mce.2011.04.001_b0165","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1210\/en.2005-0468","article-title":"Forebrain gonadotropin-releasing hormone neuronal development: insights from transgenic medaka and the relevance to X-linked Kallmann syndrome","volume":"147","author":"Okubo","year":"2006","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2011.04.001_b0170","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1210\/jc.86.4.1532","article-title":"The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics","volume":"86","author":"Oliveira","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0175","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/molehr\/gan027","article-title":"The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome","volume":"14","author":"Pedersen-White","year":"2008","journal-title":"Mol. Hum. Reprod."},{"key":"10.1016\/j.mce.2011.04.001_b0180","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1210\/jc.87.1.152","article-title":"The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism","volume":"87","author":"Pitteloud","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0185","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1365-2265.2001.01277.x","article-title":"Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization","volume":"55","author":"Quinton","year":"2001","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"10.1016\/j.mce.2011.04.001_b0190","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1042\/0264-6021:3570647","article-title":"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","volume":"357","author":"Robertson","year":"2001","journal-title":"Biochem. J."},{"key":"10.1016\/j.mce.2011.04.001_b0195","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1210\/jc.2007-1168","article-title":"Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1\/KAL2 mutations","volume":"93","author":"Salenave","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0200","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1210\/jc.2003-030476","article-title":"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","volume":"89","author":"Sato","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.04.001_b0205","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/338161a0","article-title":"Origin of luteinizing hormone-releasing hormone neurons","volume":"338","author":"Schwanzel-Fukuda","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.mce.2011.04.001_b0210","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/0169-328X(89)90076-4","article-title":"Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome","volume":"6","author":"Schwanzel-Fukuda","year":"1989","journal-title":"Brain Res. Mol. Brain Res."},{"key":"10.1016\/j.mce.2011.04.001_b0215","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1002\/(SICI)1096-9861(19960311)366:3<547::AID-CNE12>3.0.CO;2-M","article-title":"Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos","volume":"366","author":"Schwanzel-Fukuda","year":"1996","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.mce.2011.04.001_b0220","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1210\/er.19.5.521","article-title":"Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations","volume":"19","author":"Seminara","year":"1998","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.mce.2011.04.001_b0225","doi-asserted-by":"crossref","first-page":"E566","DOI":"10.1210\/jc.2010-2292","article-title":"Expanding the phenotype and genotype of female GnRH deficiency","volume":"96","author":"Shaw","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"Pt 19","key":"10.1016\/j.mce.2011.04.001_b0230","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1242\/jcs.111.19.2953","article-title":"Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner","volume":"111","author":"Soussi-Yanicostas","year":"1998","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.mce.2011.04.001_b0235","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0092-8674(02)00713-4","article-title":"Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons","volume":"109","author":"Soussi-Yanicostas","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.mce.2011.04.001_b0240","doi-asserted-by":"crossref","first-page":"15140","DOI":"10.1073\/pnas.1009622107","article-title":"Oligogenic basis of isolated gonadotropin-releasing hormone deficiency","volume":"107","author":"Sykiotis","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mce.2011.04.001_b0245","doi-asserted-by":"crossref","first-page":"3668","DOI":"10.1172\/JCI43699","article-title":"Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions","volume":"120","author":"Teixeira","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mce.2011.04.001_b0250","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1210\/me.2004-0330","article-title":"Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population","volume":"19","author":"Tsai","year":"2005","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0270","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.yfrne.2010.11.002","article-title":"Fibroblast growth factor signaling in the developing neuroendocrine hypothalamus","volume":"32","author":"Tsai","year":"2011","journal-title":"Front Neuroendocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0275","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.yfrne.2010.07.005","article-title":"Gonadotropin-releasing hormone (GnRH) neuron migration: Initiation, maintenance and cessation as critical steps to ensure normal reproductive function","volume":"32","author":"Wierman","year":"2011","journal-title":"Front Neuroendocrinol."},{"key":"10.1016\/j.mce.2011.04.001_b0265","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.mce.2009.04.017","article-title":"Anosmin-1a is required for fasciculation and terminal targeting of olfactory sensory neuron axons in the zebrafish olfactory system","volume":"312","author":"Yanicostas","year":"2009","journal-title":"Mol. Cell. Endocrinol."}],"container-title":["Molecular and Cellular Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720711001961?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720711001961?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,11,21]],"date-time":"2021-11-21T19:37:29Z","timestamp":1637523449000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303720711001961"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":53,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S0303720711001961"],"URL":"https:\/\/doi.org\/10.1016\/j.mce.2011.04.001","relation":{},"ISSN":["0303-7207"],"issn-type":[{"value":"0303-7207","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}