Detalhe da pesquisa
1.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652444
2.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
3.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO Mol Med
; 15(2): e16478, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36652330
4.
Bioenergetic analysis of aged-phenotype skin in a rare syndromic cutis laxa.
J Cosmet Dermatol
; 20(9): 2999-3006, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522694
5.
miR-324-3p and miR-508-5p expression levels could serve as potential diagnostic and multidrug-resistant biomarkers in childhood acute lymphoblastic leukemia.
Leuk Res
; 109: 106643, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34147937