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List of works by William J Pavan

6DMAP inhibits chromatin decondensation but not sperm histone kinase in sea urchin male pronuclei

scientific article published on 01 June 1990

A Sox10 expression screen identifies an amino acid essential for Erbb3 function

scientific article

A curated online resource for SOX10 and pigment cell molecular genetic pathways

scientific article

A dual role for SOX10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitors

scientific article (publication date: 2013)

A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease

article

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3

article

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

scientific article published on 19 May 2016

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

scientific article

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo

scientific article

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy

scientific journal article

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

scientific article published on 21 June 2013

A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice

scientific article

Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency

scientific article

An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.

scientific article

Analysis of ocular hypopigmentation in Rab38cht/cht mice

scientific article

Axing the cancer loop.

scientific article

BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation

scientific article

Cloning and tissue expression of the mouse ortholog of AIM1, a βγ-crystallin superfamily member ⬇️

scientific article published on September 1, 1998

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

scientific article

Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human.

scientific article

Comparison of melanoblast expression patterns identifies distinct classes of genes

scientific article

Correction: Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients.

scientific article published on 16 April 2013

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

scientific article published on 19 November 2015

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

scientific article

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome

scientific article published on 5 December 2005

Development of a web-based disease forecasting system for strawberries

article

Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.

scientific article

Ectopic differentiation of melanocyte stem cells is influenced by genetic background

scientific article

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

scientific article published on 10 May 2013

Frequent mutations in the MITF pathway in melanoma

scientific article published on 29 April 2009

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

scientific article published on 29 January 2020

Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage

scientific article

Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes

scientific article

Genomic copy number and expression variation within the C57BL/6J inbred mouse strain

scientific article

Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence.

scientific article

Gpnmb is a melanoblast-expressed, MITF-dependent gene

scientific article

Hepatocyte Growth Factor/Scatter Factor-MET Signaling in Neural Crest-Derived Melanocyte Development

article

High-efficiency yeast artificial chromosome fragmentation vectors.

scientific article

Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection

scientific article published on 30 December 2016

Highly stable and sensitive fluorescent probes (LysoProbes) for lysosomal labeling and tracking.

scientific article

Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis

scientific article published on 6 February 2017

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish

scientific article

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

scientific article

Informatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function

scientific article

Informatic selection of a neural crest-melanocyte cDNA set for microarray analysis

scientific article published on August 1999

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes

scientific article

Interspecies difference in the regulation of melanocyte development by SOX10 and MITF.

scholarly article

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial

scientific article published on 10 August 2017

Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene.

scientific article published on June 1999

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

scientific article

Local epidemiology and clinical manifestations of Lyme disease.

scientific article published on 19 March 2009

Localization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8

scientific article

Loci associated with skin pigmentation identified in African populations.

scientific article published on 12 October 2017

Lyme borreliosis in the Emilia-Romagna region (Italy): identification of the etiological agent

scientific article published on 01 January 1998

Lysosomal targeting with stable and sensitive fluorescent probes (Superior LysoProbes): applications for lysosome labeling and tracking during apoptosis

scientific article

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells

scientific article published on 09 August 2019

Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru

scientific article published on 01 May 1997

Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor

scientific journal article

Melanocytes don't always take the high road

scientific article published on 17 December 2009

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

scientific article

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds

scientific article published on 15 August 2018

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

scientific article published on 21 March 2016

Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene ⬇️

scientific article published on July 11, 1997

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

scientific article (publication date: 2013)

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

scientific article

NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation

scientific article

Networks and pathways in pigmentation, health, and disease

scientific article

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

scientific article

Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer

scientific article

Oxidative stress in Niemann-Pick disease, type C

scientific article

Plasma and tissue concentrations of α-tocopherol and δ-tocopherol following high dose dietary supplementation in mice

scientific article

Postnatal lineage mapping of follicular melanocytes with the Tyr::CreER(T) (2) transgene

scientific article

Praja1, a novel gene encoding a RING-H2 motif in mouse development

scientific journal article

Quantitative trait loci that modify the severity of spotting in piebald mice.

scientific article published in August 1995

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

scientific article

SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis

scientific article published on August 2013

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

scientific article

Sox proteins in melanocyte development and melanoma

scientific article

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

scientific article published in January 1998

Specification of neural crest into sensory neuron and melanocyte lineages

scientific article

Stem cells of the melanocyte lineage.

scientific article published on January 2007

Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.

scientific article published on July 1997

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

scientific article

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.

scientific article

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

scientific article

The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes

scientific article published on 18 January 2013

The RhoJ-BAD signaling network: An Achilles' heel for BRAF mutant melanomas

scientific article

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome

article

The etiology and molecular genetics of human pigmentation disorders ⬇️

scientific article published on May 17, 2012

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

scientific article

The genetic regulation of pigment cell development.

scientific article published on January 2006

The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin ⬇️

scientific article published on August 16, 2011

The mouse neurological mutant weaver maps within the region of chromosome 16 that is homologous to human chromosome 21

article

The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling

scientific article

The transcription factors Ets1 and Sox10 interact during murine melanocyte development

scientific article

Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?

scientific article published on December 2008

[49] Yeast artificial chromosome modification and manipulation

article

[CARDIAC RESUSCITATION. CURRENT STATUS.]

scientific article published on 01 July 1963

[CLINICAL ASPECTS OF THE USE OF PENTHRANE.]

scientific article published on 01 January 1965

[PREOPERATIVE EVALUATION FOR ANESTHESIA.]

scientific article published on 01 November 1964

[Surgical treatment of aneurysms of the ascending aorta - emphasis on the re-establishment of coronary circulation]

scientific article published on 01 October 1980

cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene.

scientific article published on November 1999

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

scientific article

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

scientific article published in Journal of Biological Chemistry

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