Literature DB >> 22335431

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.

D Tsiakkis, M Pieri, P Koupepidou, P Demosthenous, K Panayidou, C Deltas.   

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Year:  2012        PMID： 22335431     DOI： 10.1111/j.1399-0004.2012.01849.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

Authors:  Andrew F Malone; Steven D Funk; Tarek Alhamad; Jeffrey H Miner
Journal:  Pediatr Nephrol       Date:  2016-12-24       Impact factor: 3.714

Review 2.  Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Authors:  Marion Jeanne; Douglas B Gould
Journal:  Matrix Biol       Date:  2016-10-26       Impact factor: 11.583

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

Review 4.  The renal biopsy in the genomic era.

Authors:  Helen Liapis; Joseph P Gaut
Journal:  Pediatr Nephrol       Date:  2012-11-21       Impact factor: 3.714

5.  Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome.

Authors:  Xuechao Zhao; Xueliang Shang; Chen Chen; Lina Liu; Conghui Wang; Ganye Zhao; Junjun Zhang; Xiangdong Kong
Journal:  Biomed Rep       Date:  2020-06-09

6.  Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.

Authors:  Andreas Matthaiou; Tsielestina Poulli; Constantinos Deltas
Journal:  Clin Kidney J       Date:  2020-02-10

7.  A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.

Authors:  Christoforos Odiatis; Isavella Savva; Myrtani Pieri; Pavlos Ioannou; Petros Petrou; Gregory Papagregoriou; Kyriaki Antoniadou; Neoklis Makrides; Charalambos Stefanou; Danica Galešić Ljubanović; Georgios Nikolaou; Dorin-Bogdan Borza; Kostas Stylianou; Oliver Gross; Constantinos Deltas
Journal:  Matrix Biol Plus       Date:  2020-12-30

8.  Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Authors:  Joel T Gibson; Mary Huang; Marina Shenelli Croos Dabrera; Krushnam Shukla; Hansjörg Rothe; Pascale Hilbert; Constantinos Deltas; Helen Storey; Beata S Lipska-Ziętkiewicz; Melanie M Y Chan; Omid Sadeghi-Alavijeh; Daniel P Gale; Agne Cerkauskaite; Judy Savige
Journal:  Sci Rep       Date:  2022-02-17       Impact factor: 4.379
  8 in total

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