메뉴 건너뛰기




Volumn 13, Issue 3, 2007, Pages 25-30

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans

Author keywords

Gene mutation; Hypogonadotrophic hypogonadism; Idiopathic hypogonadotrophic hypogonadism; KAL1 gene; Kallmann syndrome

Indexed keywords

ACID PROTEIN; ANOSMIN 1; FIBRONECTIN; FIBRONECTIN TYPE 3; NERVE CELL ADHESION MOLECULE; PROTEIN KAL1; UNCLASSIFIED DRUG; WHEY ACID PROTEIN; KAL1 PROTEIN, HUMAN; NERVE PROTEIN; SCLEROPROTEIN;

EID: 33847659272     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gal108     Document Type: Article
Times cited : (31)

References (49)
  • 2
    • 26244448074 scopus 로고    scopus 로고
    • The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
    • Bhagavath B, Ozata M, Ozdemir IC, Bolu E, Bick DP, Sherins RJ and Layman LC (2005) The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertil Steril 84,951-957.
    • (2005) Fertil Steril , vol.84 , pp. 951-957
    • Bhagavath, B.1    Ozata, M.2    Ozdemir, I.C.3    Bolu, E.4    Bick, D.P.5    Sherins, R.J.6    Layman, L.C.7
  • 6
    • 0023934983 scopus 로고
    • Gonadotropin therapy in men with isolated hypogonadotropic hypogonadism: The response to human chorionic gonadotropin is predicted by initial testicular size
    • Burris AS, Rodbard HW, Winters SJ and Sherins RJ (1988) Gonadotropin therapy in men with isolated hypogonadotropic hypogonadism: The response to human chorionic gonadotropin is predicted by initial testicular size. J Clin Endocrinol Metab 66,1144-1151.
    • (1988) J Clin Endocrinol Metab , vol.66 , pp. 1144-1151
    • Burris, A.S.1    Rodbard, H.W.2    Winters, S.J.3    Sherins, R.J.4
  • 7
    • 9444238033 scopus 로고    scopus 로고
    • The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
    • Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI and Maggi R (2004) 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) Hum Mol Genet , vol.13 , pp. 2781-2791
    • Cariboni, A.1    Pimpinelli, F.2    Colamarino, S.3    Zaninetti, R.4    Piccolella, M.5    Rumio, C.6    Piva, F.7    Rugarli, E.I.8    Maggi, R.9
  • 8
    • 33644849965 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
    • Chocholska S, Rossier E, Barbi G and Kehrer-Sawatzki H (2006) Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A 140,604-610.
    • (2006) Am J Med Genet A , vol.140 , pp. 604-610
    • Chocholska, S.1    Rossier, E.2    Barbi, G.3    Kehrer-Sawatzki, H.4
  • 11
    • 0031016660 scopus 로고    scopus 로고
    • Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
    • Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF, Jr and Vallejo M (1997) 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) J Clin Endocrinol Metab , vol.82 , pp. 213-217
    • Georgopoulos, N.A.1    Pralong, F.P.2    Seidman, C.E.3    Seidman, J.G.4    Crowley Jr., W.F.5    Vallejo, M.6
  • 12
    • 9244247298 scopus 로고    scopus 로고
    • Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism
    • Gonzalez-Martinez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J and Bouloux PM (2004) Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism. J Neurosci 24,10384-10392.
    • (2004) J Neurosci , vol.24 , pp. 10384-10392
    • Gonzalez-Martinez, D.1    Kim, S.H.2    Hu, Y.3    Guimond, S.4    Schofield, J.5    Winyard, P.6    Vannelli, G.B.7    Turnbull, J.8    Bouloux, P.M.9
  • 13
    • 18844367672 scopus 로고    scopus 로고
    • A window of opportunity: The diagnosis of gonadotropin deficiency in the male infant
    • Grumbach MM (2005) A window of opportunity: The diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab 90, 3122-3127.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 3122-3127
    • Grumbach, M.M.1
  • 14
    • 0031737816 scopus 로고    scopus 로고
    • A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
    • Gu WX, Colquhoun-Kerr JS, Kopp P, Bode HH and Jameson JL (1998) A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. Mol Genet Metab 65,59-61.
    • (1998) Mol Genet Metab , vol.65 , pp. 59-61
    • Gu, W.X.1    Colquhoun-Kerr, J.S.2    Kopp, P.3    Bode, H.H.4    Jameson, J.L.5
  • 17
    • 9244231594 scopus 로고    scopus 로고
    • Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator
    • Hu Y, Gonzalez-Martinez D, Kim SH and Bouloux PM (2004) Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator. Biochem J 384,495-505.
    • (2004) Biochem J , vol.384 , pp. 495-505
    • Hu, Y.1    Gonzalez-Martinez, D.2    Kim, S.H.3    Bouloux, P.M.4
  • 19
    • 0033759845 scopus 로고    scopus 로고
    • A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome
    • Jansen C, Hendriks-Stegeman BI and Jansen M (2000) A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome. Horm Res 53,207-212.
    • (2000) Horm Res , vol.53 , pp. 207-212
    • Jansen, C.1    Hendriks-Stegeman, B.I.2    Jansen, M.3
  • 20
    • 0034661199 scopus 로고    scopus 로고
    • Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons
    • Kramer PR and Wray S (2000) Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. Genes Dev 14,1824-1834.
    • (2000) Genes Dev , vol.14 , pp. 1824-1834
    • Kramer, P.R.1    Wray, S.2
  • 24
    • 0036549115 scopus 로고    scopus 로고
    • GnRH neuronal development: Insights into hypogonadotrophic hypogonadism
    • MacColl G, Quinton R and Bouloux PM (2002) GnRH neuronal development: insights into hypogonadotrophic hypogonadism. Trends Endocrinol Metab 13,112-118.
    • (2002) Trends Endocrinol Metab , vol.13 , pp. 112-118
    • MacColl, G.1    Quinton, R.2    Bouloux, P.M.3
  • 29
    • 0033594383 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
    • Merke DP, Tajima T, Baron J and Cutler GB Jr (1999) Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 340,1248-1252.
    • (1999) N Engl J Med , vol.340 , pp. 1248-1252
    • Merke, D.P.1    Tajima, T.2    Baron, J.3    Cutler Jr., G.B.4
  • 30
    • 3042795444 scopus 로고    scopus 로고
    • Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)
    • Miura K, Acierno JS Jr and Seminara SB (2004) Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet 49,265-268.
    • (2004) J Hum Genet , vol.49 , pp. 265-268
    • Miura, K.1    Acierno Jr., J.S.2    Seminara, S.B.3
  • 31
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC and Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11,863-874.
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 37
    • 0032958354 scopus 로고    scopus 로고
    • Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature
    • Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B and Fraser IS (1999) Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. Hum Reprod 14,1207-1212.
    • (1999) Hum Reprod , vol.14 , pp. 1207-1212
    • Persson, J.W.1    Humphrey, K.2    Watson, C.3    Taylor, P.4    Leigh, D.5    McDonald, B.6    Fraser, I.S.7
  • 41
    • 12144288744 scopus 로고    scopus 로고
    • 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
    • Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y and Yokozawa M et al. (2004) 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) J Clin Endocrinol Metab , vol.89 , pp. 1079-1088
    • Sato, N.1    Katsumata, N.2    Kagami, M.3    Hasegawa, T.4    Hori, N.5    Kawakita, S.6    Minowada, S.7    Shimotsuka, A.8    Shishiba, Y.9    Yokozawa, M.10
  • 42
    • 0000023099 scopus 로고
    • Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
    • Sheffield VC, Cox DR, Lerman LS and Myers RM (1989) Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86,232-236.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 43
    • 0036077552 scopus 로고    scopus 로고
    • Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome
    • Soderlund D, Canto P and Mendez JP (2002) Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. J Clin Endocrinol Metab 87,2589-2592.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2589-2592
    • Soderlund, D.1    Canto, P.2    Mendez, J.P.3
  • 44
    • 0031787628 scopus 로고    scopus 로고
    • Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner
    • Soussi-Yanicostas N, Faivre-Sarrailh C, Hardelin JP, Levilliers J, Rougon G and Petit C (1998) Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. J Cell Sci 111(Pt 19), 2953-2965.
    • (1998) J Cell Sci , vol.111 , Issue.PART 19 , pp. 2953-2965
    • Soussi-Yanicostas, N.1    Faivre-Sarrailh, C.2    Hardelin, J.P.3    Levilliers, J.4    Rougon, G.5    Petit, C.6
  • 45
    • 0037133961 scopus 로고    scopus 로고
    • Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons
    • Soussi-Yanicostas N, de Castro F, Julliard AK, Perfettini I, Chedotal A and Petit C (2002) Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 109,217-228.
    • (2002) Cell , vol.109 , pp. 217-228
    • Soussi-Yanicostas, N.1    de Castro, F.2    Julliard, A.K.3    Perfettini, I.4    Chedotal, A.5    Petit, C.6
  • 46
    • 29644437762 scopus 로고    scopus 로고
    • Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
    • Trarbach EB, Baptista MT, Garmes HM and Hackel C (2005) Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients. J Endocrinol 187,361-368.
    • (2005) J Endocrinol , vol.187 , pp. 361-368
    • Trarbach, E.B.1    Baptista, M.T.2    Garmes, H.M.3    Hackel, C.4
  • 47
    • 0031902705 scopus 로고    scopus 로고
    • Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation
    • Weissortel R, Strom TM, Dorr HG, Rauch A and Meitinger T (1998) Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet 54,45-51.
    • (1998) Clin Genet , vol.54 , pp. 45-51
    • Weissortel, R.1    Strom, T.M.2    Dorr, H.G.3    Rauch, A.4    Meitinger, T.5
  • 49
    • 0026729351 scopus 로고
    • Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
    • Wulfsberg EA, Curtis J and Jayne CH (1992) Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet 43,823-828.
    • (1992) Am J Med Genet , vol.43 , pp. 823-828
    • Wulfsberg, E.A.1    Curtis, J.2    Jayne, C.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.