PMID: 18407127Jan 1, 1993Paper

Molecular basis of the X-chromosome-linked Kallmann's syndrome

Trends in Endocrinology and Metabolism : TEM
C Petit

Abstract

Kallmann's syndrome combines hypogonadotropic hypogonadism and anosmia. The most frequent form of the disease is linked to the X chromosome and has been proposed to be due to a defect in the embryonic migration of GnRH neurons and olfactory axons from the nose to the brain. A candidate gene for the X-linked form of the disease has been isolated by positional cloning. Mutations in the open reading frame have been identified in several patients, providing convincing evidence that this gene is the actual gene, KAL, responsible for the X-linked Kallmann's syndrome. Correlations between molecular and clinical data extend the role of the KAL gene to other neuronal pathways and kidney organogenesis. The deduced amino acid sequence led us to postulate that the KAL protein is an extracellular matrix component with possible antiprotease and adhesion functions. Such functions are known to be involved in neuronal migration, axonal guidance and targeting, and also in synaptogenesis. Further experiments will enable the elucidation of the role of the KAL protein.

References

Jun 15, 1979·Science·L J ShapiroG Romeo
May 11, 1975·Clinical Genetics·J D WegenkeJ M Opitz
Mar 1, 1992·Kidney International·L Sorokin, P Ekblom
Jun 25, 1992·The New England Journal of Medicine·D BickA Ballabio
Jan 1, 1990·Methods in Enzymology·J M ClaverieL Bougueleret
May 1, 1991·Neuron·F RuppR H Scheller
Jan 1, 1991·Annual Review of Neuroscience·L F Reichardt, K J Tomaselli
Jan 1, 1991·Annual Review of Biochemistry·G M Edelman, K L Crossin
Jun 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·H M AlbertsenD Cohen
Mar 1, 1990·American Journal of Medical Genetics·L G BestJ Sturlaugson
May 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·C PetitJ Weissenbach
Mar 9, 1989·Nature·M Schwanzel-Fukuda, D W Pfaff
Feb 1, 1989·Neurology·J D SchwankhausR J Sherins
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J LevilliersC Petit
Jan 1, 1988·Hormone Research·J L ChaussainJ C Job
Feb 1, 1987·The Journal of Cell Biology·F G RathjenU Rutishauser
Jan 1, 1973·The Journal of Clinical Endocrinology and Metabolism·R J Santen, C A Paulsen
Jun 1, 1984·The Journal of Comparative Neurology·P D Prasada Rao, T E Finger
Jan 11, 1982·Nucleic Acids Research·R Staden, A D McLachlan

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Citations

Jan 1, 1995·Trends in Endocrinology and Metabolism : TEM·P M Dubois, A Elamraoui
Mar 4, 1999·The New England Journal of Medicine·E Y Adashi, J D Hennebold
Nov 26, 1998·Journal of Pediatric Endocrinology & Metabolism : JPEM·P DissaneevateM R Zacharin
Apr 30, 2014·Hormones : International Journal of Endocrinology and Metabolism·Carmen Entrala-BernalPiedad Santiago-Fernández

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