Literature DB >> 7881431

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

E Fransen1, C Schrander-Stumpel, L Vits, P Coucke, G Van Camp, P J Willems.   

Abstract

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Year:  1994        PMID： 7881431     DOI： 10.1093/hmg/3.12.2255

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  14 in total

1.  Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.

Authors:  H D Moulding; R L Martuza; S D Rabkin
Journal:  J Neurosci       Date:  2000-08-01       Impact factor: 6.167

Review 2.  X linked hydrocephalus and MASA syndrome.

Authors:  S Kenwrick; M Jouet; D Donnai
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  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

4.  A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

Authors:  S Izumoto; M Yamasaki; N Arita; S Hiraga; T Ohnishi; K Fujitani; S Sakoda; T Hayakawa
Journal:  Childs Nerv Syst       Date:  1996-12       Impact factor: 1.475

5.  Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Authors:  Rosario Marín; Miriam Ley-Martos; Gema Gutiérrez; Felicidad Rodríguez-Sánchez; Diego Arroyo; Francisco Mora-López
Journal:  Eur J Pediatr       Date:  2015-05-07       Impact factor: 3.183

6.  A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

Authors:  T Takechi; J Tohyama; T Kurashige; K Maruta; K Uyemura; T Ohi; S Matsukura; N Sakuragawa
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

7.  Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.

Authors:  L K Needham; K Thelen; P F Maness
Journal:  J Neurosci       Date:  2001-03-01       Impact factor: 6.167

Review 8.  "CRASH"ing with the worm: insights into L1CAM functions and mechanisms.

Authors:  Lihsia Chen; Shan Zhou
Journal:  Dev Dyn       Date:  2010-05       Impact factor: 3.780

9.  New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Authors:  M Jouet; A Moncla; J Paterson; C McKeown; A Fryer; N Carpenter; E Holmberg; C Wadelius; S Kenwrick
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

10.  A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

Authors:  Y Z Du; C Dickerson; A S Aylsworth; C E Schwartz
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
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