Literature DB >> 2387585

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

M Djabali1, M G Mattei, C Nguyen, D Roux, J Demengeot, F Denizot, M Moos, M Schachner, C Goridis, B R Jordan.   

Abstract

The murine and human genes for the L1 neural adhesion molecule were shown to lie on conserved regions of the X chromosome to which genes responsible for several neuromuscular diseases have been mapped and which are adjacent to the fragile site (FRAXA) associated with mental retardation. By pulsed-field gel mapping we have demonstrated physical linkage between the L1 gene and other genes located in Xq28: L1 lies between the eye pigment RCP, GCP locus and the glucose-6-phosphate dehydrogenase (G6PD) gene. This location is compatible with the implication of the L1 molecule in one of the X-linked neuromuscular diseases mapped to this region.

Entities:  

Mesh:

Substances:

Year:  1990        PMID: 2387585     DOI: 10.1016/0888-7543(90)90203-7

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  18 in total

1.  Cell adhesion molecule L1 in folded (horseshoe) and extended conformations.

Authors:  G Schürmann; J Haspel; M Grumet; H P Erickson
Journal:  Mol Biol Cell       Date:  2001-06       Impact factor: 4.138

Review 2.  Mouse X chromosome.

Authors:  S D Brown; P Avner; G E Herman
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

3.  A simple method for the direct use of total cosmid clones as hybridization probes.

Authors:  M Djabali; C Nguyen; D Roux; J Demengeot; H M Yang; B R Jordan
Journal:  Nucleic Acids Res       Date:  1990-10-25       Impact factor: 16.971

4.  Very high molecular weight DNA for pulsed field gel studies can be obtained routinely from conventional frozen blood aliquots.

Authors:  C Nguyen; M Djabali; D Roux; B R Jordan
Journal:  Nucleic Acids Res       Date:  1991-01-25       Impact factor: 16.971

5.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

6.  Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Authors:  P J Willems; L Vits; P Raeymaekers; J Beuten; P Coucke; J J Holden; C Van Broeckhoven; S T Warren; M Sagi; D Robinson
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

7.  MspI RFLP in the L1 CAM gene in Xq28.

Authors:  P J Willems; L Vits; K De Boulle
Journal:  Nucleic Acids Res       Date:  1991-10-11       Impact factor: 16.971

8.  Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

Authors:  A Bateman; M Jouet; J MacFarlane; J S Du; S Kenwrick; C Chothia
Journal:  EMBO J       Date:  1996-11-15       Impact factor: 11.598

9.  PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1).

Authors:  A Rosenthal; R N MacKinnon; D S Jones
Journal:  Nucleic Acids Res       Date:  1991-10-11       Impact factor: 16.971

10.  Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

Authors:  Kakanahalli Nagaraj; Lars V Kristiansen; Adam Skrzynski; Carlos Castiella; Luis Garcia-Alonso; Michael Hortsch
Journal:  Hum Mol Genet       Date:  2009-07-19       Impact factor: 6.150

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.