Literature DB >> 9153141

Charcot-Marie-Tooth disease: a gene-dosage effect.

J R Lupski1.   

Abstract

A broad spectrum of inherited neuropathy has been traced to three myelin genes, yet in the two most common disorders, there is no mutated gene. Instead, a gene has an extra or missing copy, as part of a 1.5-megabase DNA duplication or deletion. Eventually, duplications may emerge as a large fraction of all mutations. The discoveries have implications even for acquired disorders--including carpal tunnel syndrome.

Entities:  

Mesh：

Year:  1997        PMID： 9153141     DOI： 10.1080/21548331.1997.11443485

Source DB:  PubMed          Journal:  Hosp Pract (1995)        ISSN： 2154-8331


  8 in total

1.  Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

Authors:  L T Reiter; P J Hastings; E Nelis; P De Jonghe; C Van Broeckhoven; J R Lupski
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

2.  Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.

Authors:  Nam Le; Rakesh Nagarajan; James Y T Wang; Toshiyuki Araki; Robert E Schmidt; Jeffrey Milbrandt
Journal:  Proc Natl Acad Sci U S A       Date:  2005-02-03       Impact factor: 11.205

3.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  Charcot-marie-tooth disease: seventeen causative genes.

Authors:  Jung-Hwa Lee; Byung-Ok Choi
Journal:  J Clin Neurol       Date:  2006-06-20       Impact factor: 3.077

5.  Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.

Authors:  Robert H Baloh; Amy Strickland; Elizabeth Ryu; Nam Le; Timothy Fahrner; Mao Yang; Rakesh Nagarajan; Jeffrey Milbrandt
Journal:  J Neurosci       Date:  2009-02-25       Impact factor: 6.167

6.  Selection in the evolution of gene duplications.

Authors:  Fyodor A Kondrashov; Igor B Rogozin; Yuri I Wolf; Eugene V Koonin
Journal:  Genome Biol       Date:  2002-01-14       Impact factor: 13.583

7.  Caveats in the Established Understanding of CMT1A.

Authors:  Jun Li
Journal:  Ann Clin Transl Neurol       Date:  2017-06-15       Impact factor: 4.511

8.  Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH).

Authors:  Daniele Cassatella; Nicola Antonio Martino; Luisa Valentini; Antonio Ciro Guaricci; Maria Francesca Cardone; Flavia Pizzi; Maria Elena Dell'Aquila; Mario Ventura
Journal:  BMC Genomics       Date:  2013-12-27       Impact factor: 3.969
  8 in total

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