Literature DB >> 11198602

Two novel alternatively spliced 9-bp exons in the COL4A5 gene.

P H Martin1, K Tryggvason.   

Abstract

The existence of an alternatively used 18-bp sequence has been described in type IV collagen alpha 5 chain mRNA from human kidney (Guo et al., Kidney Int 44, 1993). In this study we have shown that this sequence is encoded by two exons, termed 41A and 41B, that are located in a 9-kb intron 41 that was sequenced in its entirety. The sequences of exon 41A and 41B were shown to be present in mRNAs from a variety of tissues.

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Year:  2001        PMID： 11198602     DOI： 10.1007/s004670000462

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  7 in total

1.  Bifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashion.

Authors:  Malin Sund; Yohei Maeshima; Raghu Kalluri
Journal:  Biochem J       Date:  2005-05-01       Impact factor: 3.857

2.  Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Authors:  Jens Michael Hertz; Ulf Persson; Inger Juncker; Mårten Segelmark
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

3.  Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Authors:  Tomoko Horinouchi; Kandai Nozu; Tomohiko Yamamura; Shogo Minamikawa; Takashi Omori; Keita Nakanishi; Junya Fujimura; Akira Ashida; Mineaki Kitamura; Mitsuhiro Kawano; Wataru Shimabukuro; Chizuko Kitabayashi; Aya Imafuku; Keiichi Tamagaki; Koichi Kamei; Kenjirou Okamoto; Shuichiro Fujinaga; Masafumi Oka; Toru Igarashi; Akinori Miyazono; Emi Sawanobori; Rika Fujimaru; Koichi Nakanishi; Yuko Shima; Masafumi Matsuo; Ming Juan Ye; Yoshimi Nozu; Naoya Morisada; Hiroshi Kaito; Kazumoto Iijima
Journal:  J Am Soc Nephrol       Date:  2018-06-29       Impact factor: 10.121

4.  The Alport nephropathy: clinicopathological correlations.

Authors:  Richard H R White; Faro Raafat; David V Milford; Filadelfia Komianou; Nadeem E Moghal
Journal:  Pediatr Nephrol       Date:  2005-04-26       Impact factor: 3.714

5.  Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome.

Authors:  Scott J Harvey; Keqin Zheng; Barbara Jefferson; Peter Moak; Yoshikazu Sado; Ichiro Naito; Yoshifumi Ninomiya; Robert Jacobs; Paul S Thorner
Journal:  Am J Pathol       Date:  2003-03       Impact factor: 4.307

6.  Genetic cause of X-linked Alport syndrome in a family of domestic dogs.

Authors:  Melissa L Cox; George E Lees; Clifford E Kashtan; Keith E Murphy
Journal:  Mamm Genome       Date:  2003-06       Impact factor: 2.957

7.  The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome.

Authors:  Fang Wang; Dan Zhao; Jie Ding; Xuejuan Li
Journal:  Front Pediatr       Date:  2020-04-09       Impact factor: 3.418
  7 in total

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