COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans-Reference-Cited by-同舟云学术

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COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

Published:2019-06-22 Issue:10 Volume:138 Page:1105-1115
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kitzler Thomas M.,Schneider Ronen,Kohl Stefan,Kolvenbach Caroline M.,Connaughton Dervla M.,Dai Rufeng,Mann Nina,Nakayama Makiko,Majmundar Amar J.,Wu Chen-Han W.,Kari Jameela A.,El Desoky Sherif M.,Senguttuvan Prabha,Bogdanovic Radovan,Stajic Natasa,Valivullah Zaheer,Lek Monkol,Mane Shrikant,Lifton Richard P.,Tasic Velibor,Shril Shirlee,Hildebrandt Friedhelm^ORCID

Funder

Research Training in Pediatric Nephrology grant

National Institute of Health

National Institutes of Health

Harvard Stem Cell Institute Kidney Inter-lab Fellowship Award at Harvard Medical School

Health Research Board, Ireland

KRESCENT - Kidney Foundation of Canada, the Canadian Society of Nephrology, and the Canadian Institutes of Health Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02042-4.pdf

Reference43 articles.

1. Alamowitch S et al (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873–1882. https://doi.org/10.1212/wnl.0b013e3181c3fd12

2. Baker NL et al (2007) Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol 62:390–405. https://doi.org/10.1002/ana.21213

3. Braun DA et al (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet 48:457–465. https://doi.org/10.1038/ng.3512

4. Chaki M et al (2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 80:1239–1245. https://doi.org/10.1038/ki.2011.284

5. Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL (1985) Vesicoureteric reflux: segregation analysis. Am J Med Genet 20:577–584. https://doi.org/10.1002/ajmg.1320200403

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1. Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT;Scientific Reports;2024-09-05

2. COL4A1 Gene Mutation Masquerading as Cerebral Palsy: Report of a Rare Case;Cureus;2024-08-20

3. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

4. Plasma MCP-1 and TGF-β1 Levels are Associated with Kidney Injury in Children with Congenital Anomalies of the Kidney and Urinary Tract;Applied Biochemistry and Biotechnology;2024-01-20

5. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life;Kidney International Reports;2023-11

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