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Nova · Professor Researcher · re-ranking top 20…

Samuel Refetoff

Samuel Refetoff

Verified

University of Chicago · Endocrinology, Diabetes and Metabolism

Active 1965–2024

h-index103

Citations38.8k

Papers79194 last 5y

Funding$87.2M2 active

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Research topics

Medicine
Endocrinology
Internal medicine
Biology
Pathology
Psychiatry
Genetics
Biochemistry

Selected publications

AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency
Thyroid · 2022 · 23 citations
- Endocrinology
- Internal medicine
- Medicine
IV administration of AAV9, carrying the human MCT8, to juvenile dKO mice manifesting AHDS has long-term beneficial effects, predominantly on the CNS. This preclinical study indicates that this gene therapy has the potential to ameliorate the devastating neurological symptoms in patients with AHDS.
Publisher OA PDF DOI
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by <i>MCT8</i> Gene Mutation
Thyroid · 2020 · 30 citations
1st authorCorresponding
- Medicine
- Endocrinology
- Internal medicine
This is the first demonstration that prenatal treatment improved the neuromotor and neurocognitive function in MCT8 deficiency. Earlier treatment with TH analogues that concentrate in the fetus when given to the mother may further rescue the phenotype.
Publisher OA PDF DOI
Human Type 1 Iodothyronine Deiodinase ( <i>DIO1</i> ) Mutations Cause Abnormal Thyroid Hormone Metabolism
Thyroid · 2020 · 50 citations
- Endocrinology
- Internal medicine
- Biology
pathogenic variants identified in families with abnormal TH metabolism. This is the first demonstration of inherited D1 deficiency in humans.
DOI

Recent grants

Integrated Clinical and Basic Endocrinology Research
NIH · $8.1M · 1975–2026
NIH Grant R01AM015070
NIH · $245k · 1989
Thyroid Physiology Studies of Inherited Disorders
NIH · $10.0M · 1979–2027
NIH Grant R37DK015070
NIH · $8.2M · 2017
NIH Grant P60DK020595
NIH · $60.7M · 2013

Frequent coauthors

Roy E. Weiss
150 shared
Alexandra M. Dumitrescu
University of Chicago
107 shared
Xiao-Hui Liao
University of Chicago
99 shared
Victor S. Fang
Unchained Labs (United States)
75 shared
Jacques Samarut
Université Claude Bernard Lyon 1
71 shared
Frédéric Flamant
École Normale Supérieure de Lyon
59 shared
Douglas Forrest
National Institute of Diabetes and Digestive and Kidney Diseases
52 shared
Leslie J. DeGroot
51 shared

Education

MD, CM, Medicine
McGill University
1963

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