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William J. Pavan

national institutes of health (nih) - usa

H指数:67

被引数:2.1万

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Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1

IF2.6

2026-03-111

PRE

Single-cell profiling of MC1R-inhibited melanocytes

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2023-11-164

OA

Inbred SJL mice recapitulate human resistance to Cryptococcus infection due to differential immune activation

IF4.7

2023-10-312

OAAI

The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2023-10-241

OAAI

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-07-017

OAAI

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression

SCIENTIFIC REPORTS

IF3.9

2022-02-096

OAAI

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice

LIFE SCIENCE ALLIANCE

IF2.9

2021-08-1813

OAAI

How a membrane transporter keeps melanocytes in the red

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2021-05-151

OAAI

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

DISEASE MODELS & MECHANISMS

IF3.3

2020-03-1324

OAAI

Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2020-02-013

OAAI

Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-017

OAAI

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

JOURNAL OF CLINICAL MEDICINE

IF2.9

2019-12-1912

OAAI

The Genetics of Human Skin and Hair Pigmentation

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019

IF0

2019-08-31101

OAAI

Improved disease amelioration with combination therapy for Niemann-Pick disease type C1

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-02-010

PREAI

A curated gene list for expanding the horizons of pigmentation biology

PIGMENT CELL & MELANOMA RESEARCH

IF2.6

2018-11-0695

OAAI

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

DISEASE MODELS & MECHANISMS

IF3.3

2018-08-1538

OAAI

Gene therapy for the treatment of Niemann-Pick disease type C1: Comparison of AAV9 to a novel serotype, AAV-PHP.B

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-010

PREAI

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

IF88.5

2017-10-01257

OAAI

Ory, Daniel S.; Ottinger, Elizabeth A.; Farhat, Nicole Yanjanin; King, Kelly A.; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D.; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A.; Xu, Xin; Thurm, Audrey; Solomon, Beth; Pavan, William J.; Machielse, Bernardus N.; Kao, Mark; Silber, Steven A.; Mckew, John C.; Brewer, Carmen C.; Vite, Charles H.; Walkley, Steven U.; Austin, Christopher P.; Porter, Forbes D.

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

IF3.7

2017-07-2820

OAAI

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

BRG1与SOX10相互作用建立黑素细胞谱系并促进分化

NUCLEIC ACIDS RESEARCH

IF13.1

2017-04-2054

OAAI