Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Adolescent
Adult
Cell Movement
/ genetics
Copper-Transporting ATPases
/ genetics
Down-Regulation
/ genetics
Female
Humans
Immune System Phenomena
/ genetics
Infant
Male
Menkes Kinky Hair Syndrome
/ genetics
Mutation
/ genetics
Proteome
/ genetics
Proteomics
/ methods
Up-Regulation
/ genetics
Exome Sequencing
/ methods
Young Adult
Menkes disease
exome sequencing
hypopigmentary disorder
rare disease
silvery hair syndrome
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
14 05 2021
14 05 2021
Historique:
received:
18
03
2021
revised:
12
05
2021
accepted:
12
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
26
8
2021
Statut:
epublish
Résumé
Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting α (
Identifiants
pubmed: 34069220
pii: genes12050744
doi: 10.3390/genes12050744
pmc: PMC8156642
pii:
doi:
Substances chimiques
Proteome
0
Copper-Transporting ATPases
EC 7.2.2.8
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
J Biol Inorg Chem. 2016 Apr;21(2):137-44
pubmed: 26790881
Clin Chim Acta. 2012 Mar 22;413(5-6):612-5
pubmed: 22192859
J Med Genet. 2012 Jun;49(6):353-61
pubmed: 22581936
Mol Genet Metab Rep. 2017 Jul 21;13:14-17
pubmed: 28761814
J Multidiscip Healthc. 2016 Aug 17;9:371-85
pubmed: 27574440
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Cell. 2011 Sep 30;147(1):32-43
pubmed: 21962505
Br Med Bull. 1999;55(3):544-55
pubmed: 10746345
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Med Genet. 2007 Nov;44(11):673-88
pubmed: 17717039
Curr Drug Metab. 2012 Mar;13(3):237-50
pubmed: 21838703
Iran J Child Neurol. 2014 Fall;8(4):72-5
pubmed: 25657774
Future Med Chem. 2009 Sep;1(6):1125-42
pubmed: 20454597
Methods Mol Biol. 2006;341:205-15
pubmed: 16799201
Clin Genet. 2011 Feb;79(2):176-82
pubmed: 20497190
Nature. 2011 Jun 29;475(7354):59-64
pubmed: 21716286
Orphanet J Rare Dis. 2012 Jan 22;7:6
pubmed: 22264391
Res Commun Chem Pathol Pharmacol. 1993 Jan;79(1):61-73
pubmed: 8434133
Sci Rep. 2017 Apr 7;7(1):757
pubmed: 28389643
Pediatr Dermatol. 2018 Nov;35(6):780-783
pubmed: 30338556
Genomics. 1995 Apr 10;26(3):437-42
pubmed: 7607665
Bioinformatics. 2004 Dec 12;20(18):3710-5
pubmed: 15297299
Indian J Dermatol. 2014 Jul;59(4):394-7
pubmed: 25071262
Metab Brain Dis. 2017 Aug;32(4):1173-1183
pubmed: 28451781
Eur J Hum Genet. 2010 May;18(5):511-8
pubmed: 19888294
Metab Brain Dis. 2017 Aug;32(4):1123-1131
pubmed: 28397151
Hum Mutat. 2005 Aug;26(2):84-93
pubmed: 15981243
Clin Genet. 2011 Mar;79(3):243-53
pubmed: 21208200
Front Biosci (Landmark Ed). 2009 Jan 01;14:2413-31
pubmed: 19273209
Age (Dordr). 2016 Feb;38(1):24
pubmed: 26863877
Hum Mutat. 2013 Mar;34(3):417-29
pubmed: 23281160
Pediatr Int. 2019 Apr;61(4):345-350
pubmed: 30809870