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Literature DB >> 11533914

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

K Verhoeven¹, M Villanova, A Rossi, A Malandrini, P De Jonghe, V Timmerman.

Abstract

Intermediate Charcot-Marie-Tooth neuropathy (CMT) is an inherited sensory motor neuropathy characterized by motor median nerve conduction velocities of 25-45 m/s. We performed a genomewide search in an Italian family with autosomal dominant intermediate CMT and mapped the locus on chromosome 10q. Analysis of key recombinants maps the gene for autosomal dominant intermediate CMT to a 10.7-Mb interval on chromosome 10q24.1-q25.1, between simple tandem repeat markers D10S1709 and D10S1795.

Entities: CellLine Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 2001 PMID： 11533914 PMCID： PMC1226075 DOI： 10.1086/323742

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

29 in total

1. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors: L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal: Am J Hum Genet Date: 2000-05-30 Impact factor: 11.025

2. Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease.

Authors: A Malandrini; C Ceuterick; M Villanova; S Gambelli; G Berti; A Rossi; G C Guazzi
Journal: J Submicrosc Cytol Pathol Date: 2001 Jan-Apr

3. Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Authors: C F Boerkoel; H Takashima; P Stankiewicz; C A Garcia; S M Leber; L Rhee-Morris; J R Lupski
Journal: Am J Hum Genet Date: 2000-12-15 Impact factor: 11.025

4. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

Authors: P De Jonghe; I Mersivanova; E Nelis; J Del Favero; J J Martin; C Van Broeckhoven; O Evgrafov; V Timmerman
Journal: Ann Neurol Date: 2001-02 Impact factor: 10.422

5. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

Authors: T Rogers; D Chandler; D Angelicheva; P K Thomas; B Youl; I Tournev; V Gergelcheva; L Kalaydjieva
Journal: Am J Hum Genet Date: 2000-07-27 Impact factor: 11.025

6. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Authors: C Zhao; J Takita; Y Tanaka; M Setou; T Nakagawa; S Takeda; H W Yang; S Terada; T Nakata; Y Takei; M Saito; S Tsuji; Y Hayashi; N Hirokawa
Journal: Cell Date: 2001-06-01 Impact factor: 41.582

7. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Authors: K Inoue; K Dewar; N Katsanis; L T Reiter; E S Lander; K L Devon; D W Wyman; J R Lupski; B Birren
Journal: Genome Res Date: 2001-06 Impact factor: 9.043

8. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Authors: V Timmerman; P De Jonghe; C Ceuterick; E De Vriendt; A Löfgren; E Nelis; L E Warner; J R Lupski; J J Martin; C Van Broeckhoven
Journal: Neurology Date: 1999-06-10 Impact factor: 9.910

9. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.

Authors: C J Davis; W G Bradley; R Madrid
Journal: J Genet Hum Date: 1978-12

10. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Authors: A Bolino; M Muglia; F L Conforti; E LeGuern; M A Salih; D M Georgiou; K Christodoulou; I Hausmanowa-Petrusewicz; P Mandich; A Schenone; A Gambardella; F Bono; A Quattrone; M Devoto; A P Monaco
Journal: Nat Genet Date: 2000-05 Impact factor: 38.330

15 in total

Review 1. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Authors: Kinga Szigeti; Eva Nelis; James R Lupski
Journal: Neuromolecular Med Date: 2006 Impact factor: 3.843

2. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.

Authors: Bing-Wen Soong; Yen-Hua Huang; Pei-Chien Tsai; Chien-Chang Huang; Hung-Chuan Pan; Yi-Chun Lu; Hsin-Ju Chien; Tze-Tze Liu; Ming-Hong Chang; Kon-Ping Lin; Pang-Hsien Tu; Lung-Sen Kao; Yi-Chung Lee
Journal: Am J Hum Genet Date: 2013-02-21 Impact factor: 11.025

3. Understanding the Hidden Complexity of Latin American Population Isolates.

Authors: Jazlyn A Mooney; Christian D Huber; Susan Service; Jae Hoon Sul; Clare D Marsden; Zhongyang Zhang; Chiara Sabatti; Andrés Ruiz-Linares; Gabriel Bedoya; Nelson Freimer; Kirk E Lohmueller
Journal: Am J Hum Genet Date: 2018-10-25 Impact factor: 11.025

9. Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region.

Authors: Danqing Zhu; Marina Kennerson; John Merory; Roman Chrast; Mark Verheijen; Greg Lemke; Garth Nicholson
Journal: Neurogenetics Date: 2003-05-22 Impact factor: 2.660

10. Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.

Authors: Kenji Tanabe; Kohji Takei
Journal: J Cell Biol Date: 2009-06-15 Impact factor: 10.539