Kidney Injury by Variants in the
Acute Kidney Injury
/ etiology
Adult
Child
Child, Preschool
Collagen Type IV
/ genetics
Female
Genetic Predisposition to Disease
Glomerulosclerosis, Focal Segmental
/ complications
Hemizygote
Heterozygote
Humans
Infant
Intracellular Signaling Peptides and Proteins
/ genetics
Male
Membrane Proteins
/ genetics
Mutation
Nephritis, Hereditary
/ genetics
Pedigree
Polymorphism, Single Nucleotide
alport syndrome
focal segmental glomerulosclerosis
glomerular basement membrane
kidney injury
modifier gene
nephrin
podocin
slit diaphragm
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Jan 2019
26 Jan 2019
Historique:
received:
14
12
2018
revised:
21
01
2019
accepted:
21
01
2019
entrez:
30
1
2019
pubmed:
30
1
2019
medline:
5
6
2019
Statut:
epublish
Résumé
Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failure. Heterozygous carriers develop renal symptoms late, if at all. In contrast to mutations in slit diaphragm genes, hetero- or hemizygous mutations in the X-chromosomal
Identifiants
pubmed: 30691124
pii: ijms20030519
doi: 10.3390/ijms20030519
pmc: PMC6386959
pii:
doi:
Substances chimiques
COL4A5 protein, human
0
Collagen Type IV
0
Intracellular Signaling Peptides and Proteins
0
Membrane Proteins
0
NPHS2 protein
0
nephrin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Nephrol Dial Transplant. 2002 Jul;17(7):1218-27
pubmed: 12105244
J Clin Invest. 2002 Dec;110(11):1659-66
pubmed: 12464671
J Am Soc Nephrol. 2003 Jun;14 Suppl 1:S22-6
pubmed: 12761234
N Engl J Med. 2003 Jun 19;348(25):2543-56
pubmed: 12815141
J Am Soc Nephrol. 2003 Oct;14(10):2603-10
pubmed: 14514738
Pediatr Nephrol. 2004 Dec;19(12):1313-8
pubmed: 15503167
J Am Soc Nephrol. 2006 Jul;17(7):1986-94
pubmed: 16775036
Kidney Int. 2008 May;73(9):1038-47
pubmed: 18288100
Pediatr Nephrol. 2008 Dec;23(12):2201-7
pubmed: 18726620
N Engl J Med. 2009 Oct 22;361(17):1701-3
pubmed: 19846857
J Pediatr Hematol Oncol. 2011 Apr;33(3):190-3
pubmed: 21325972
Am J Hum Genet. 2011 Jul 15;89(1):139-47
pubmed: 21722858
Nat Rev Nephrol. 2011 Oct 25;8(1):14-21
pubmed: 22025085
Kidney Int. 2012 Mar;81(5):494-501
pubmed: 22166847
N Engl J Med. 2011 Dec 22;365(25):2398-411
pubmed: 22187987
Pediatr Nephrol. 2012 Apr;27(4):675-9
pubmed: 22228437
ISRN Pediatr. 2012;2012:436046
pubmed: 22811928
Nat Rev Nephrol. 2013 Mar;9(3):170-8
pubmed: 23165304
Am J Transplant. 2013 Feb;13(2):266-74
pubmed: 23312002
Nat Rev Nephrol. 2013 Apr;9(4):200-10
pubmed: 23338211
Nat Rev Nephrol. 2013 Jun;9(6):328-36
pubmed: 23609563
Biol Blood Marrow Transplant. 2013 Aug;19(8):1263-6
pubmed: 23711594
Pediatr Nephrol. 2013 Oct;28(10):2061-4
pubmed: 23800802
Nat Rev Genet. 2013 Oct;14(10):681-91
pubmed: 23999272
J Am Soc Nephrol. 2013 Dec;24(12):1945-54
pubmed: 24052634
Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):331-6
pubmed: 24344311
Genet Res (Camb). 2013 Dec;95(6):165-73
pubmed: 24472419
Nat Genet. 2014 Mar;46(3):299-304
pubmed: 24509478
J Am Soc Nephrol. 2014 Dec;25(12):2740-51
pubmed: 24854265
Clin Kidney J. 2014 Apr;7(2):197-200
pubmed: 24944784
Kidney Int. 2014 Dec;86(6):1253-9
pubmed: 25229338
Eur J Hum Genet. 2015 Sep;23(9):1192-9
pubmed: 25407002
Nat Rev Nephrol. 2015 Feb;11(2):76-87
pubmed: 25447132
Am J Hum Genet. 1996 Dec;59(6):1221-32
pubmed: 8940267
Genes Dev. 1996 Dec 1;10(23):2981-92
pubmed: 8956999