Samuel Refetoff
Research Summary / Selected Publications
An integrated program of clinical and laboratory investigation with the purpose of identifying and characterizing human genetic errors causing defects of thyroid hormone regulation, synthesis, transport and action. Central to this program is the availability of patient material for clinical studies and laboratory support to identify the gene defects responsible for the in vivo observations. Abnormal gene products are characterized at the molecular level and animal models are generated for in-depth analysis of the phenotype. The ultimate objective is the understanding of both pathophysiology and normal physiological processes. Some of the research involves populations with high prevalence of inborn errors of the thyroid.
An integrated program of clinical and laboratory investigation with the purpose of identifying and characterizing human genetic errors causing defects of thyroid hormone regulation, synthesis, transport and action. Central to this program is the availability of patient material for clinical studies and laboratory support to identify the gene defects responsible for the in vivo observations. Abnormal gene products are characterized at the molecular level and animal models are generated for in-depth analysis of the phenotype. The ultimate objective is the understanding of both pathophysiology and normal physiological processes. Some of the research involves populations with high prevalence of inborn errors of the thyroid.
Dumitrescu AM, Liao X-H, Best TD, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74:168-176, 2004
Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone. JAMA 292:691-695, 2004. JAMA (Letter) 292:2085-2086, 2004. JAMA (Letter) 293:160-161, 2005.
Dumitrescu AM, Liao X-H, Abdullah MSY, Lado-Abeal J, Abdul Majed F, Moeller LC,
Boran G, Schomburg L, Weiss RE, Refetoff S.
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Nature Genet. 37:1247-1252, 2005.
Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S. Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Human Genet. 118:348-355, 2005.
Dumitrescu AM, Liao X-H, Weiss RE, Millen E, Refetoff S. Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice. Endocrinology 147:4036-4043, 2006.
Grasberger H, Refetoff S. Identification of the maturation factor for dual oxidase: evolution of an eukaryotic operon-equivalent. J. Biol. Chem. 281:18269-18272, 2006.
Dumitrescu AM, Liao X-H, Best TD, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74:168-176, 2004
Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone. JAMA 292:691-695, 2004. JAMA (Letter) 292:2085-2086, 2004. JAMA (Letter) 293:160-161, 2005.
Dumitrescu AM, Liao X-H, Abdullah MSY, Lado-Abeal J, Abdul Majed F, Moeller LC,
Boran G, Schomburg L, Weiss RE, Refetoff S.
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Nature Genet. 37:1247-1252, 2005.
Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S. Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Human Genet. 118:348-355, 2005.
Dumitrescu AM, Liao X-H, Weiss RE, Millen E, Refetoff S. Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice. Endocrinology 147:4036-4043, 2006.
