基本信息
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Bio
Since 1987, the genetic basis of PWS has been the primary research focus of Nicholls. Beyond discovering genomic imprinting in human disease, additional major scientific discoveries in PWS include genetic subclasses, imprinted genes, DNA methylation, imprinting mechanisms, and cellular and animal models. He has also identified several other disease genes: oculocutaneous albinism type 2 (OCA2), the most common form of albinism worldwide especially for people in and of African origin; spastic paraplegia type 6 (SPG6); and mouse juvenile development and fertility (jdf2). Recent studies include work on transcriptional and miRNA regulatory networks in PWS and other genetic diseases. Over the past 20+ years, molecular, epigenetic, endocrine, and pathophysiological studies of animal models of PWS have been a focus. To identify the pathophysiological basis for PWS, he characterized the pig PWS-imprinted genomic domain and developed swine models of PWS using CRISPR/Cas9 genome editing. Similarly, a second, genome-edited pig model was developed for phenylketonuria (PKU). The porcine models of PWS and PKU provide suitable preclinical models for understanding PWS and PKU neuropathophysiology and to explore new therapeutics.
Research Interests
Papers共 219 篇Author StatisticsCo-AuthorSimilar Experts
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PLoS geneticsno. 4 (2023): e1010710-e1010710
GEOLOGICAL MAGAZINEno. 1 (2022): 146-166
CURRENT BIOLOGYno. 4 (2021): R182-R183
Erik A. Koppes, Bethany K. Redel,Marie A. Johnson,Kristen J. Skvorak,Lina Ghaloul-Gonzalez,Megan E. Yates,Dale W. Lewis,Susanne M. Gollin,Yijen L. Wu,Shawn E. Christ,Martine Yerle, Angela Leshinski,
JCI INSIGHTno. 20 (2020)
semanticscholar(2020)
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Igor Ribeiro Ferreira,Régis Afonso Costa,Leonardo Henrique Ferreira Gomes,Wilton Darleans dos Santos Cunha,Latife Salomão Tyszler, Silvia Freitas, Juan Clinton Llerena Junior,Zilton Farias Meira de Vasconcelos,Robert D. Nicholls,Letícia da Cunha Guida
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Author Statistics
#Papers: 219
#Citation: 18363
H-Index: 68
G-Index: 135
Sociability: 7
Diversity: 3
Activity: 8
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