Detalhe da pesquisa
1.
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Am J Hum Genet
; 110(7): 1123-1137, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327787
2.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
3.
Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L.
Int J Mol Sci
; 25(6)2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542347
4.
Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 µs Molecular Dynamics Simulation.
Int J Mol Sci
; 24(17)2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685839
5.
In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles.
Int J Mol Sci
; 24(1)2022 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36614088
6.
Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.
Int J Mol Sci
; 23(3)2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163231
7.
Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.
Int J Mol Sci
; 22(19)2021 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638544
8.
Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase.
Int J Mol Sci
; 22(15)2021 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360537
9.
Tyrosinase Nanoparticles: Understanding the Melanogenesis Pathway by Isolating the Products of Tyrosinase Enzymatic Reaction.
Int J Mol Sci
; 22(2)2021 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450959
10.
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Hum Mutat
; 41(3): 678-695, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816153
11.
Human Tyrosinase: Temperature-Dependent Kinetics of Oxidase Activity.
Int J Mol Sci
; 21(3)2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32019134
12.
Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1.
Int J Mol Sci
; 21(1)2020 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947795
13.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Hum Mol Genet
; 26(12): 2218-2230, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369466
14.
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet
; 99(6): 1388-1394, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889061
15.
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
J Med Genet
; 54(6): 404-412, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446513
16.
CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.
Hum Mol Genet
; 24(13): 3775-91, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859007
17.
The consequences of deglycosylation of recombinant intra-melanosomal domain of human tyrosinase.
Biol Chem
; 399(1): 73-77, 2017 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28858842
18.
Andreev reflection, a tool to investigate vortex dynamics and quantum turbulence in 3He-B.
Proc Natl Acad Sci U S A
; 111 Suppl 1: 4659-66, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704872
19.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Hum Mol Genet
; 23(21): 5827-37, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899048
20.
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
BMC Med Genet
; 17(1): 52, 2016 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27475985