نتایج جستجو برای: pmp22

تعداد نتایج: 356  

2014
Christina DiVincenzo Christopher D Elzinga Adam C Medeiros Izabela Karbassi Jeremiah R Jones Matthew C Evans Corey D Braastad Crystal M Bishop Malgorzata Jaremko Zhenyuan Wang Khalida Liaquat Carol A Hoffman Michelle D York Sat D Batish James R Lupski Joseph J Higgins

We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot-Marie-Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory. Deidentified results from sequencing assays and multiplex ligation-dependent probe amplifica...

Journal: :Clinical chemistry 1995
I P Blair M L Kennerson G A Nicholson

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy with a genetic locus on chromosome 17p11.2. The majority of patients carry a duplicated DNA segment that encompasses the gene PMP22, which encodes a peripheral myelin protein. PMP22 is the crucial gene involved in the pathogenesis of CMT1A. Molecular diagnosis of CMT1A requires detection of this duplicated segment...

Journal: :Neuron 1996
Michael Sereda Ian Griffiths Anja Pühlhofer Helen Stewart Moritz J Rossner Frank Zimmermann Josef P Magyar Armin Schneider Ernst Hund Hans-Michael Meinck Ueli Suter Klaus-Armin Nave

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gai...

2014
Chundi Vinay Kumar Rayapadi G. Swetha Anand Anbarasu Sudha Ramaiah

The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting in the diseased state. We performed SNP analysis for all the nsSNPs of PMP22 protein and carried...

Journal: :Neuromuscular disorders : NMD 2014
E Calpena D Martínez-Rubio J Arpa J J García-Peñas D Montaner J Dopazo F Palau C Espinós

Hereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditar...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 1997
L M Bolin T McNeil L A Lucian B DeVaux K Franz-Bacon D M Gorman S Zurawski R Murray T K McClanahan

The hnmp-1 (hematopoietic neural membrane protein) gene encodes a protein with striking similarity to the tetra-transmembrane-spanning protein encoded by pmp22. hnmp-1 was cloned from an elutriated human monocyte library and is expressed in various human hematopoietic and lymphoid lineages as well as adult mouse spleen and thymus. In the mouse nervous system, HNMP-1 mRNA is temporally expressed...

Journal: :Human molecular genetics 1996
C Huxley E Passage A Manson G Putzu D Figarella-Branger J F Pellissier M Fontés

Construction of animal models of human inherited diseases is particularly important for testing gene therapy approaches. Towards this end, we constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear injection of a YAC containing the human PMP22 gene. In one transgenic line, the YAC DNA is integrated in about eight copies and the PMP22 gene is strongly expressed to give a ...

Journal: :Chang Gung medical journal 2004
Shiang-Yao Hsieh Hung-Chou Kuo Chun-Che Chu Kon-Ping Lin Chin-Chang Huang

Various clinical manifestations, electrophysiological findings, and sural nerve biopsies are reported in a Taiwanese family with type 1A Charcot-Marie-Tooth disease (CMT-1A). In addition, molecular genetic studies for duplication of the peripheral myelin protein 22 (PMP22) gene were also performed. There were 3 patients (2 men and 1 woman) with ages at onset ranging from 37 to 44 years. The ons...

2009
Joo Young Kwon Ki Wha Chung Eun Kyung Park Sun Wha Park Byung-Ok Choi

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosom...

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