Detalhe da pesquisa
1.
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.
J Biol Chem
; 299(3): 102925, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36682497
2.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Neurol Neurochir Pol
; 53(5): 369-376, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577365
3.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602711
4.
ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
Sci Rep
; 14(1): 9321, 2024 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653789