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Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06112-y
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- Publication type:
- Article
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
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- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012
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- Publication type:
- Article
BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.
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- Nucleic Acids Research, 2017, v. 45, n. 11, p. 6442, doi. 10.1093/nar/gkx259
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- Article
Generation of RCAS Vectors Useful for Functional Genomic Analyses.
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- DNA Research, 2001, v. 8, n. 5, p. 221, doi. 10.1093/dnares/8.5.221
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- Article
cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene.
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- 1999
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- Publication type:
- Abstract
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.
- Published in:
- BMC Developmental Biology, 2011, v. 11, n. 1, p. 40, doi. 10.1186/1471-213X-11-40
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- Article
The RhoJ-BAD signaling network: An Achilles' heel for BRAF mutant melanomas.
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- PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006913
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- Publication type:
- Article
A direct link between MITF, innate immunity, and hair graying.
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- PLoS Biology, 2018, v. 16, n. 5, p. 1, doi. 10.1371/journal.pbio.2003648
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- Publication type:
- Article
In utero complementation of a neural crest-derived melanocyte defect using cell directed gene transfer.
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- Genesis: The Journal of Genetics & Development, 2001, v. 30, n. 2, p. 70, doi. 10.1002/gene.1035
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- Article
The etiology and molecular genetics of human pigmentation disorders.
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- WIREs: Developmental Biology, 2013, v. 2, n. 3, p. 379, doi. 10.1002/wdev.72
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- Publication type:
- Article
Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients.
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- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059066
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- Publication type:
- Article
A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo.
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- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014346
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- Article
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
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- Human Genetics, 2000, v. 107, n. 1, p. 1, doi. 10.1007/s004390050001
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- Publication type:
- Article
Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling.
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- Stem Cells Translational Medicine, 2015, v. 4, n. 3, p. 230, doi. 10.5966/sctm.2014-0127
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- Publication type:
- Article
The importance of having your SOX on: role of SOX10<sup>†</sup> in the development of neural crest-derived melanocytes and glia.
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- Oncogene, 2003, v. 22, n. 20, p. 3024, doi. 10.1038/sj.onc.1206442
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- Publication type:
- Article
A curated online resource for SOX10 and pigment cell molecular genetic pathways.
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- Database: The Journal of Biological Databases & Curation, 2010, v. 2010, p. 1, doi. 10.1093/database/baq025
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- Publication type:
- Article
Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.
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- BMC Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12863-019-0765-5
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- Publication type:
- Article
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.
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- Life Science Alliance, 2021, v. 4, n. 10, p. 1, doi. 10.26508/lsa.202101040
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- Publication type:
- Article
Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.
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- G3: Genes | Genomes | Genetics, 2019, v. 9, n. 3, p. 817, doi. 10.1534/g3.118.200965
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- Publication type:
- Article
Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection.
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- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 2, p. 719, doi. 10.1534/g3.116.038091
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- Publication type:
- Article
The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.
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- FASEB Journal, 2011, v. 25, n. 5, p. 1596, doi. 10.1096/fj.10-169771
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- Publication type:
- Article
Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?
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- Cell Research, 2008, v. 18, n. 12, p. 1163, doi. 10.1038/cr.2008.303
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- Publication type:
- Article
Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer.
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- Developmental Dynamics, 2004, v. 229, n. 1, p. 54
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- Publication type:
- Article
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.86670
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- Publication type:
- Article
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2456, doi. 10.1093/hmg/ddab194
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- Publication type:
- Article
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.
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- Human Molecular Genetics, 2017, v. 26, n. 1, p. 52, doi. 10.1093/hmg/ddw367
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- Publication type:
- Article
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.
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- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5433, doi. 10.1093/hmg/ddv267
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- Publication type:
- Article
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1.
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- Human Molecular Genetics, 2013, v. 22, n. 17, p. 3508, doi. 10.1093/hmg/ddt206
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- Publication type:
- Article
Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1.
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- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3632, doi. 10.1093/hmg/dds193
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- Article
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.
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- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152007
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- Publication type:
- Article
Lysosomal Targeting with Stable and Sensitive Fluorescent Probes (Superior LysoProbes): Applications for Lysosome Labeling and Tracking during Apoptosis.
- Published in:
- Scientific Reports, 2015, p. 9004, doi. 10.1038/srep09004
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- Publication type:
- Article
Highly Stable and Sensitive Fluorescent Probes (LysoProbes) for Lysosomal Labeling and Tracking.
- Published in:
- Scientific Reports, 2015, p. 8576, doi. 10.1038/srep08576
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- Publication type:
- Article
The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
- Published in:
- Nature Neuroscience, 2010, v. 13, n. 5, p. 551, doi. 10.1038/nn.2527
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- Publication type:
- Article
Plasma and Tissue Concentrations of α-Tocopherol and δ-Tocopherol Following High Dose Dietary Supplementation in Mice.
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- 2012
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- Publication type:
- Journal Article
A Dual Role for SOX10 in the Maintenance of the Postnatal Melanocyte Lineage and the Differentiation of Melanocyte Stem Cell Progenitors.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pgen.1003644
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- Publication type:
- Article
Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 9, p. 1, doi. 10.1371/journal.pgen.1000174
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- Publication type:
- Article
A Sox10 Expression Screen Identifies an Amino Acid Essential for Erbb3 Function.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 9, p. 1, doi. 10.1371/journal.pgen.1000177
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- Publication type:
- Article
The Secreted Metalloprotease ADAMTS20 Is Required for Melanoblast Survival.
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- PLoS Genetics, 2008, v. 4, n. 2, p. 1, doi. 10.1371/journal.pgen.1000003
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- Publication type:
- Article
Acinar Cell Apoptosis in Serpini2-Deficient Mice Models Pancreatic Insufficiency.
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- PLoS Genetics, 2005, v. 1, n. 3, p. 369, doi. 10.1371/journal.pgen.0010038
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- Publication type:
- Article
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1239, doi. 10.1002/humu.24257
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- Publication type:
- Article
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2118, doi. 10.1093/hmg/ddn110
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- Publication type:
- Article
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 259, doi. 10.1093/hmg/ddi442
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- Publication type:
- Article
Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3107, doi. 10.1093/hmg/11.24.3107
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- Publication type:
- Article
MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells.
- Published in:
- Epigenetics & Chromatin, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13072-019-0297-2
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- Publication type:
- Article
A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice.
- Published in:
- Developmental Neurobiology (19328451), 2014, v. 74, n. 5, p. 483, doi. 10.1002/dneu.22142
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- Publication type:
- Article
Single‐cell profiling of MC1R‐inhibited melanocytes.
- Published in:
- Pigment Cell & Melanoma Research, 2024, v. 37, n. 2, p. 291, doi. 10.1111/pcmr.13141
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- Publication type:
- Article
The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
- Published in:
- Pigment Cell & Melanoma Research, 2024, v. 37, n. 2, p. 259, doi. 10.1111/pcmr.13144
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- Publication type:
- Article
How a membrane transporter keeps melanocytes in the red.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 4, p. 666, doi. 10.1111/pcmr.12973
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- Publication type:
- Article
A curated gene list for expanding the horizons of pigmentation biology.
- Published in:
- Pigment Cell & Melanoma Research, 2019, v. 32, n. 3, p. 348, doi. 10.1111/pcmr.12743
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- Publication type:
- Article
Hypoxia-induced HIF1 α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 3, p. 339, doi. 10.1111/pcmr.12579
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- Publication type:
- Article