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Literature DB >> 10777371

Somatic mosaicism associated with a mild Alport syndrome phenotype.

K E Plant, E Boye, P M Green, D Vetrie, F A Flinter.

Abstract

Entities: Disease

Mesh：

Substances：
Collagen

Year: 2000 PMID： 10777371 PMCID： PMC1734534 DOI： 10.1136/jmg.37.3.238

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

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Cited

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13 in total

1. Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

Authors: Takayuki Okamoto; Kandai Nozu; Kazumoto Iijima; Tadashi Ariga
Journal: J Nephrol Date: 2018-07-30 Impact factor: 3.902

2. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

Authors: Xue Jun Fu; Kandai Nozu; Hiroshi Kaito; Takeshi Ninchoji; Naoya Morisada; Koichi Nakanishi; Norishige Yoshikawa; Hiromi Ohtsubo; Natsuki Matsunoshita; Naohiro Kamiyoshi; Chieko Matsumura; Nobuaki Takagi; Kohei Maekawa; Mariko Taniguchi-Ikeda; Kazumoto Iijima
Journal: Eur J Hum Genet Date: 2015-05-27 Impact factor: 4.246

3. Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

Authors: Yi Guo; Jinzhong Yuan; Hui Liang; Jingjing Xiao; Hongbo Xu; Lamei Yuan; Kai Gao; Bin Wu; Yongchang Tang; Xiaorong Li; Hao Deng
Journal: Mol Biol Rep Date: 2014-02-13 Impact factor: 2.316

4. A family with X-linked benign familial hematuria.

Authors: Kazunari Kaneko; Sachiyo Tanaka; Masafumi Hasui; Kandai Nozu; Rafal Przybyslaw Krol; Kazumoto Iijima; Keisuke Sugimoto; Tsukasa Takemura
Journal: Pediatr Nephrol Date: 2010-03 Impact factor: 3.714

Review 5. X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Authors: A Pierides; K Voskarides; M Kkolou; M Hadjigavriel; C Deltas
Journal: Hippokratia Date: 2013-07 Impact factor: 0.471

Review 6. Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Authors: Judy Savige; Francesca Ariani; Francesca Mari; Mirella Bruttini; Alessandra Renieri; Oliver Gross; Constantinos Deltas; Frances Flinter; Jie Ding; Daniel P Gale; Mato Nagel; Michael Yau; Lev Shagam; Roser Torra; Elisabet Ars; Julia Hoefele; Guido Garosi; Helen Storey
Journal: Pediatr Nephrol Date: 2018-07-09 Impact factor: 3.714

Somatic mosaicism associated with a mild Alport syndrome phenotype.

1. Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

2. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

3. Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

4. A family with X-linked benign familial hematuria.

Review 5. X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Review 6. Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Review 7. New insights into the generation and role of de novo mutations in health and disease.

8. Assessment of the gene mosaicism burden in blood and its implications for immune disorders.

9. The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.

10. Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.