Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:
Adolescent
Biological Variation, Population
/ genetics
Child
Child, Preschool
Female
Genetic Association Studies
Genetic Diseases, X-Linked
/ diagnosis
Genetic Pleiotropy
/ genetics
Genotype
Humans
Kidney
/ metabolism
Male
Mutation, Missense
/ genetics
Nephrolithiasis
/ diagnosis
Oculocerebrorenal Syndrome
/ diagnosis
Phenotype
Phosphoric Monoester Hydrolases
/ genetics
Dent disease 2
Lowe syndrome
OCRL domains
OCRL mutations
genotype–phenotype correlations
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
11 10 2021
11 10 2021
Historique:
received:
01
09
2021
revised:
30
09
2021
accepted:
05
10
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
10
2
2022
Statut:
epublish
Résumé
Dent disease is a rare X-linked renal tubulopathy due to
Identifiants
pubmed: 34680992
pii: genes12101597
doi: 10.3390/genes12101597
pmc: PMC8535715
pii:
doi:
Substances chimiques
Phosphoric Monoester Hydrolases
EC 3.1.3.2
OCRL protein, human
EC 3.1.3.36
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NCATS NIH HHS
ID : R21 TR003174
Pays : United States
Organisme : NIDDK NIH HHS
ID : U54 DK083908
Pays : United States
Références
Hum Mol Genet. 1994 Nov;3(11):2053-9
pubmed: 7874126
J Am Soc Nephrol. 2011 Mar;22(3):443-8
pubmed: 21183592
Clin Genet. 2020 Mar;97(3):407-417
pubmed: 31674016
Pediatr Nephrol. 2016 Dec;31(12):2201-2212
pubmed: 27011217
Trends Biochem Sci. 2012 Apr;37(4):134-43
pubmed: 22381590
Pediatr Nephrol. 2014 Nov;29(11):2127-32
pubmed: 24912603
Am J Hum Genet. 2005 Feb;76(2):260-7
pubmed: 15627218
Mol Genet Genomic Med. 2019 Sep;7(9):e876
pubmed: 31376231
Hum Mol Genet. 1993 Dec;2(12):2129-34
pubmed: 8111383
Nat Rev Nephrol. 2017 Aug;13(8):455-470
pubmed: 28669993
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Kidney Dis. 2006 Dec;48(6):942.e1-14
pubmed: 17162149
Dev Cell. 2007 Sep;13(3):377-90
pubmed: 17765681
RNA. 2008 May;14(5):802-13
pubmed: 18369186
Hum Genet. 2021 Mar;140(3):401-421
pubmed: 32860533
PLoS Genet. 2015 Apr 02;11(4):e1005058
pubmed: 25838181
Pediatr Nephrol. 2015 Jun;30(6):931-43
pubmed: 25480730
Pediatr Nephrol. 2008 Feb;23(2):243-9
pubmed: 18038239
Orphanet J Rare Dis. 2006 May 18;1:16
pubmed: 16722554
Hum Mutat. 2011 Apr;32(4):379-88
pubmed: 21031565
RNA Biol. 2015;12(9):950-8
pubmed: 26176195
Nephrol Dial Transplant. 2014 Feb;29(2):376-84
pubmed: 24081861
J Pediatr Genet. 2012 Mar;1(1):15-23
pubmed: 27625797
J Clin Invest. 1998 May 15;101(10):2042-53
pubmed: 9593760
Am J Kidney Dis. 2002 Feb;39(2 Suppl 1):S1-266
pubmed: 11904577
J Hum Genet. 2020 Oct;65(10):831-839
pubmed: 32427950
Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94
pubmed: 27708066
EMBO J. 2009 Jul 8;28(13):1831-42
pubmed: 19536138
Nature. 1992 Jul 16;358(6383):239-42
pubmed: 1321346
Intractable Rare Dis Res. 2016 Nov;5(4):297-300
pubmed: 27904828