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.
Transcriptome of HPßCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Hum Mol Genet
; 30(24): 2456-2468, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296265
3.
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Hum Mutat
; 42(10): 1239-1253, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34246199
4.
BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.
Nucleic Acids Res
; 45(11): 6442-6458, 2017 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431046
5.
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.
Hum Mol Genet
; 24(19): 5433-50, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206884
6.
The transcription factors Ets1 and Sox10 interact during murine melanocyte development.
Dev Biol
; 407(2): 300-12, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25912689
7.
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
PLoS Genet
; 9(1): e1003094, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23382688
8.
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.
Hum Mol Genet
; 22(17): 3508-23, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23666527
9.
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.
Hum Mol Genet
; 21(16): 3632-46, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619379
10.
The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
Pigment Cell Melanoma Res
; 37(2): 259-264, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37874775
11.
Single-cell profiling of MC1R-inhibited melanocytes.
Pigment Cell Melanoma Res
; 37(2): 291-308, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37972124
12.
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.
PLoS Genet
; 11(11): e1005682, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26584186
13.
Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition.
bioRxiv
; 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090624
14.
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Sci Rep
; 12(1): 2162, 2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140266
15.
A Sox10 expression screen identifies an amino acid essential for Erbb3 function.
PLoS Genet
; 4(9): e1000177, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18773073
16.
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
Hum Mol Genet
; 17(14): 2118-31, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18397875
17.
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Dis Model Mech
; 13(3)2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996359
18.
A curated gene list for expanding the horizons of pigmentation biology.
Pigment Cell Melanoma Res
; 32(3): 348-358, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339321
19.
Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.
G3 (Bethesda)
; 9(3): 817-827, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30651286
20.
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
J Clin Med
; 9(1)2019 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31861571