Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Alexandra M Dumitrescu"'
Autor:
Bárbara Núñez, Raquel Martínez de Mena, Maria Jesus Obregon, Mariona Font-Llitjós, Virginia Nunes, Manuel Palacín, Alexandra M Dumitrescu, Beatriz Morte, Juan Bernal
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96915 (2014)
Thyroid hormone entry into cells is facilitated by transmembrane transporters. Mutations of the specific thyroid hormone transporter, MCT8 (Monocarboxylate Transporter 8, SLC16A2) cause an X-linked syndrome of profound neurological impairment and alt
Externí odkaz:
https://doaj.org/article/8901d4c3e61344998e5c47c39fc015dd
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Graves’ disease (GD) and papillary thyroid cancer (PTC) can be concomitant. The existence of a link between these entities has long been investigated, but a clear correlation hasn’t been established. We report a case of GD res
Externí odkaz:
https://doaj.org/article/a974b0069df340148e661a9e843278fb
Autor:
Monica Malheiros, França, Lucy, Reeve, Alexandra M, Dumitrescu, Martin, de Bock, Samuel, Refetoff
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 32(8)
We report a 10-month-old girl with familial congenital hypothyroidism harboring a novel heterozygous pathogenic variant in the paired DNA-binding domain of
Autor:
Christopher M. Carmean, Mizuho Mimoto, Michael Landeche, Daniel Ruiz, Bijoy Chellan, Lidan Zhao, Margaret C. Schulz, Alexandra M. Dumitrescu, Robert M. Sargis
Publikováno v:
Nutrients, Vol 13, Iss 8, p 2894 (2021)
Chronic arsenic exposure via drinking water is associated with diabetes in human pop-ulations throughout the world. Arsenic is believed to exert its diabetogenic effects via multiple mechanisms, including alterations to insulin secretion and insulin
Externí odkaz:
https://doaj.org/article/994eae19d3dd4743858831bdce0960d0
Autor:
Xiao-Hui Liao, Pablo Avalos, Oksana Shelest, Raz Ofan, Michael Shilo, Catherine Bresee, Shibi Likhite, Jean-Philippe Vit, Heike Heuer, Brian Kaspar, Kathrin Meyer, Alexandra M. Dumitrescu, Samuel Refetoff, Clive N. Svendsen, Gad D. Vatine
Publikováno v:
Thyroid
BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor disability disorder that also manifests characteristic abnormal thyroid hormone (TH) levels. AHDS is caused by inactivating mutations in monocarboxylate transporter 8 (MCT8), a
Autor:
Federico Salas-Lucia, Marius N Stan, Haleigh James, Aadil Rajwani, Xiao-Hui Liao, Alexandra M Dumitrescu, Samuel Refetoff
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context Pregnant women with mutations in the thyroid hormone receptor beta (THRB) gene expose their fetuses to high thyroid hormone (TH) levels shown to be detrimental to a normal fetus (NlFe) but not to an affected fetus (AfFe). However, no informat
Autor:
Monica Malheiros França, Lucy Reeve, Alexandra M. Dumitrescu, Martin de Bock, Samuel Refetoff
Publikováno v:
Thyroid. 32:1000-1002
Autor:
Federico Salas-Lucia, Monica M. França, James A. Amrhein, J. Elizabeth Weir, Alexandra M. Dumitrescu, Samuel Refetoff
Publikováno v:
Thyroid
We report a patient with congenital hypothyroidism due to athyreosis complicated by a heterozygous thyroid hormone receptor beta (THRβ) gene mutation (R320L), resulting in a severe resistance to thyroid hormone beta phenotype. The proband inherited
Autor:
Erin C. Hanlon, Matthew D Ettleson, Alexandra M. Dumitrescu, Marilyn Arosemena, Antonio C. Bianco, Mihai Giurcanu, Olga Duchon
Publikováno v:
Thyroid
Background: L-triiodothyronine (LT3) has been increasingly used in combination with levothyroxine in the treatment of hypothyroidism. A metal coordinated form of LT3, known as poly-zinc-liothyronine (PZL), avoided in rats the typical triiodothyronine
Autor:
Antonio C. Bianco, Alina German, Samuel Refetoff, Xiao Hui Liao, Gustavo W. Fernandes, Monica M. França, Alexandra M. Dumitrescu
Publikováno v:
Thyroid. 31:202-207
Background: Iodothyronine deiodinase-1 (D1) selenoenzyme regulates the systemic supply of active thyroid hormone (TH). Transient decrease in D1 enzymatic activity is clinically relevant and adaptive in nonthyroidal illness such as fasting or acute il