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Literature DB >> 10928858

The mitochondrial genome in Wolfram syndrome.

T G Barrett, M Scott-Brown, A Seller, A Bednarz, K Poulton, J Poulton.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2000 PMID： 10928858 PMCID： PMC1734602 DOI： 10.1136/jmg.37.6.463

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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12 in total

1. Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.

Authors: Maryam Sobhani; Mohammad Amin Tabatabaiefar; Soudeh Ghafouri-Fard; Asadollah Rajab; Sarah Mozafarpour; Samaneh Nasrniya; Abdol-Mohammad Kajbafzadeh; Mohammad Reza Noori-Daloii
Journal: Endocrine Date: 2019-07-16 Impact factor: 3.633

2. Molecular characterization of WFS1 in patients with Wolfram syndrome.

Authors: Johannes M W van ven Ouweland; Kim Cryns; Ronald J E Pennings; Inge Walraven; George M C Janssen; J Antonie Maassen; Bernard F E Veldhuijzen; Alexander B Arntzenius; Dick Lindhout; Cor W R J Cremers; Guy Van Camp; Lambert D Dikkeschei
Journal: J Mol Diagn Date: 2003-05 Impact factor: 5.568

Review 3. Optic atrophies in metabolic disorders.

Authors: Marjan Huizing; Brian P Brooks; Yair Anikster
Journal: Mol Genet Metab Date: 2005-09-27 Impact factor: 4.797

4. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

Authors: Alberto Galvez-Ruiz; Alicia Galindo-Ferreiro; Patrik Schatz
Journal: Neuroophthalmology Date: 2017-08-18

5. Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

Authors: Yi-Fan Chen; Cheng-Heng Kao; Ya-Ting Chen; Chih-Hao Wang; Chia-Yu Wu; Ching-Yen Tsai; Fu-Chin Liu; Chu-Wen Yang; Yau-Huei Wei; Ming-Ta Hsu; Shih-Feng Tsai; Ting-Fen Tsai
Journal: Genes Dev Date: 2009-05-15 Impact factor: 11.361

6. The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Authors: Jie Hong; Yu-Wen Zhang; Hui-Jie Zhang; Hui-Ying Jia; Yu Zhang; Xiao-Yi Ding; Dan-Yang Zhou; Hui-Ping Chen; Xiao-Hua Jiang; Bin Cui; Xiao-Ying Li; Guang Ning
Journal: Endocrine Date: 2009-01-22 Impact factor: 3.633

The mitochondrial genome in Wolfram syndrome.

1. Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.

2. Molecular characterization of WFS1 in patients with Wolfram syndrome.

Review 3. Optic atrophies in metabolic disorders.

4. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

5. Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

6. The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

7. Expression of the diabetes risk gene wolframin (WFS1) in the human retina.

8. Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports.

9. Clinical utility gene card for: Wolfram syndrome.

Review 10. The optic nerve: a "mito-window" on mitochondrial neurodegeneration.