508 results on '"Pavan, William J."'
Search Results
52. Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene
53. The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin
54. Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner
55. Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
56. Sox proteins in melanocyte development and melanoma
57. NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology
58. Melanocytes donʼt always take the high road
59. Cloning and tissue expression of the mouse ortholog of AIM1, a βγ-crystallin superfamily member
60. NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation
61. Comparison of melanoblast expression patterns identifies distinct classes of genes
62. Frequent mutations in the MITF pathway in melanoma
63. Gpnmb is a melanoblast-expressed, MITF-dependent gene
64. Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
65. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
66. A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
67. A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3
68. Informatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function
69. Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes
70. Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome
71. WNT1 and WNT3a promote expansion of melanocytes through distinct modes of action
72. Direct Interaction of Sox10 with the Promoter of Murine Dopachrome Tautomerase (Dct) and Synergistic Activation of Dct Expression with Mitf
73. Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human Pigmentation Disorders
74. Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes
75. Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
76. The Genetics of Human Skin and Hair Pigmentation
77. Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying
78. Endothelin signalling in the development of neural crest-derived melanocytes
79. A curated gene list for expanding the horizons of pigmentation biology
80. [49] Yeast artificial chromosome modification and manipulation
81. Localization of a neural crest transcription factor, Slug, to mouse Chromosome 16 and human Chromosome 8
82. Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds
83. In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin
84. Identification and functional analysis of SOX10 phosphorylation sites in melanoma
85. BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation
86. TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF
87. Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection
88. Highly-efficient Cpf1-mediated gene targeting in mice following high concentration pronuclear injection
89. Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1
90. A curated gene list for expanding the horizons of pigmentation biology.
91. Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development
92. Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease
93. Genomic copy number and expression variation within the C57BL/6J inbred mouse strain
94. 613. A Comparison of CNS Transduction After Systemic versus Cranial Delivery of an AAV2/9 CamKII Promoter-eGFP Vector in Mice
95. Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
96. A new glucocerebrosidase deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
97. Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
98. Genetics of Ribosomal Proteins: 'Curiouser and Curiouser'
99. A direct link between MITF, innate immunity, and hair graying.
100. Human disease genes and their cloned mouse orthologs: exploration of the FANTOM2 cDNA sequence data set
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