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Literature DB >> 8914010

Alport syndrome.

C E Kashtan¹, A F Michael.

Abstract

Entities: Disease

Mesh：

Substances：
Collagen

Year: 1996 PMID： 8914010 DOI： 10.1038/ki.1996.459

Source DB: PubMed Journal: Kidney Int ISSN： 0085-2538 Impact factor: 10.612

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Cited

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42 in total

1. Genotype-phenotype correlation in X-linked Alport syndrome.

Authors: Mir Reza Bekheirnia; Berenice Reed; Martin C Gregory; Kim McFann; Alireza Abdollah Shamshirsaz; Amirali Masoumi; Robert W Schrier
Journal: J Am Soc Nephrol Date: 2010-04-08 Impact factor: 10.121

2. 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

3. Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.

Authors: Kandai Nozu; Rafal Przybyslaw Krol; Koichi Nakanishi; Norishige Yoshikawa; Yoshimi Nozu; Yasufumi Ohtsuka; Kazumoto Iijima; Masafumi Matsuo
Journal: Pediatr Nephrol Date: 2009-01-24 Impact factor: 3.714

4. Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Authors: Vincent Morinière; Karin Dahan; Pascale Hilbert; Marieline Lison; Said Lebbah; Alexandra Topa; Christine Bole-Feysot; Solenn Pruvost; Patrick Nitschke; Emmanuelle Plaisier; Bertrand Knebelmann; Marie-Alice Macher; Laure-Hélène Noel; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
Journal: J Am Soc Nephrol Date: 2014-05-22 Impact factor: 10.121

Review 5. Cutting edge issues in Goodpasture's disease.

Authors: Andrew L Chan; Samuel Louie; Kevin O Leslie; Maya M Juarez; Timothy E Albertson
Journal: Clin Rev Allergy Immunol Date: 2011-10 Impact factor: 8.667

6. A case of mild phenotype Alport syndrome caused by COL4A3 mutations.

Authors: Masafumi Kamijo; Mineaki Kitamura; Kumiko Muta; Tadashi Uramatsu; Yoko Obata; Kandai Nozu; Hiroshi Kaito; Kazumoto Iijima; Hiroshi Mukae; Tomoya Nishino
Journal: CEN Case Rep Date: 2017-08-30

7. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.

Authors: K Zheng; S Harvey; Y Sado; I Naito; Y Ninomiya; R Jacobs; P S Thorner
Journal: Am J Pathol Date: 1999-06 Impact factor: 4.307