Literature DB >> 8238008

Alport-leiomyomatosis syndrome: an update.

R García-Torres1, L Orozco.   

Abstract

Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene).

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Mesh：

Year:  1993        PMID： 8238008     DOI： 10.1016/s0272-6386(12)80425-2

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


  6 in total

1.  Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

Authors:  L Heidet; E Boye; Y Cai; Y Sado; X Zhang; J F Fléjou; F Fékété; Y Ninomiya; M C Gubler; C Antignac
Journal:  Am J Pathol       Date:  1998-03       Impact factor: 4.307

2.  Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

Authors:  Y Ueki; I Naito; T Oohashi; M Sugimoto; T Seki; H Yoshioka; Y Sado; H Sato; T Sawai; F Sasaki; M Matsuoka; S Fukuda; Y Ninomiya
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

3.  Successful peritoneal dialysis in 2 siblings with Alport's disease and gastric pull-up.

Authors:  Venkat S Vellanki; Joanne M Bargman
Journal:  Perit Dial Int       Date:  2014 Jul-Aug       Impact factor: 1.756

4.  Alport-leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report.

Authors:  Junya Aoyama; Yutaka Miyawaki; Takuya Kato; Naoto Fujiwara; Hirofumi Sugita; Hiroshi Sato; Masanori Yasuda; Shinichi Sakuramoto; Shigeki Yamaguchi
Journal:  Gen Thorac Cardiovasc Surg       Date:  2019-11-22

5.  Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients.

Authors:  B Peissel; L Geng; R Kalluri; C Kashtan; H G Rennke; G R Gallo; K Yoshioka; M J Sun; B G Hudson; E G Neilson
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808

6.  LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

Authors:  Y Segal; B Peissel; A Renieri; M de Marchi; A Ballabio; Y Pei; J Zhou
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025
  6 in total

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