Detalhe da pesquisa
1.
Re-evaluation of missense variant classifications in NF2.
Hum Mutat
; 43(5): 643-654, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332608
2.
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
PLoS Genet
; 15(7): e1008215, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260448
3.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273341
4.
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hum Mol Genet
; 22(25): 5262-75, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956175
5.
CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development.
J Bone Miner Res
; 35(8): 1452-1469, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181934
6.
Trypanosoma brucei BRCA2 acts in antigenic variation and has undergone a recent expansion in BRC repeat number that is important during homologous recombination.
Mol Microbiol
; 68(5): 1237-51, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18430140
7.
Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.
J Cyst Fibros
; 15(5): e50-1, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067634