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A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES
Author(s): FRANCO B, GUIOLI S, PRAGLIOLA A, INCERTI B, BARDONI B, TONLORENZI R, CARROZZO R, MAESTRINI E, PIERETTI M, TAILLONMILLER P, BROWN CJ, WILLARD HF, LAWRENCE C, PERSICO MG, CAMERINO G, BALLABIO A
Source: NATURE    Volume: 353    Issue: 6344    Pages: 529-536    Published: OCT 10 1991  
Times Cited: 493     References: 60     
Abstract: Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic gonadotropin-releasing hormone. A gene has now been isolated from the critical region on Xp22.3 to which the syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. The predicted protein has significant similarities with proteins involved in neural cell adhesion and axonal pathfinding, as well as with protein kinases and phosphatases, which suggests that this gene could have a specific role in neuronal migration.
Document Type: Article
Language: English
Addresses:
1. BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, HOUSTON, TX 77030 USA
2. INST G GASLINI, GENOA, ITALY
3. NAPLES UNIV, DEPT PEDIAT, I-80138 NAPLES, ITALY
4. BAYLOR COLL MED, DEPT CELL BIOL, HOUSTON, TX 77030 USA
5. INT INST GENET & BIOPHYS, I-80125 NAPLES, ITALY
6. WASHINGTON UNIV, SCH MED, CTR GENET MED, ST LOUIS, MO 63110 USA
7. STANFORD UNIV, MED CTR, SCH MED, DEPT GENET, STANFORD, CA 94305 USA
8. IST BIOCHIM GENET EVOLUZION ST, PAVIA, ITALY
Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF
Subject Category: Multidisciplinary Sciences
IDS Number: GJ643
ISSN: 0028-0836
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