Detalhe da pesquisa
1.
The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.
Traffic
; 25(1): e12929, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272449
2.
Assessing type I collagen expression and quality in cellular models of osteogenesis imperfecta.
Clin Genet
; 105(3): 329-334, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014644
3.
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.
J Hum Genet
; 68(4): 287-290, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526684
4.
Acyl-CoA binding protein regulates nutrient-dependent autophagy.
Metabolism
; 145: 155338, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36280213
5.
Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX.
Matrix Biol
; 115: 81-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526215
6.
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Biochim Biophys Acta Mol Basis Dis
; 1869(6): 166741, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146916
7.
Exome Sequencing in Monogenic Forms of Rickets.
Indian J Pediatr
; 90(12): 1182-1190, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692815
8.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
NPJ Genom Med
; 8(1): 39, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993442
9.
Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation.
PeerJ
; 8: e9799, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884864