Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Slc16a2"'
Publikováno v:
European Thyroid Journal, Vol 13, Iss 6, Pp 1-9 (2024)
Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the hu
Externí odkaz:
https://doaj.org/article/d7f6a6ea3dda416a8b666029fb3f2f1a
Publikováno v:
Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)
Nina-Maria Wilpert,1,2 Davide Tonduti,3 Ylenia Vaia,3 Heiko Krude,4 Catherine Sarret,5 Markus Schuelke1,2,6 1Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute
Externí odkaz:
https://doaj.org/article/6649c0f03e284adbb621aac95998025c
Autor:
Katarzyna Anna Ludwik, Robert Opitz, Sabine Jyrch, Matthias Megges, January Weiner, Dieter Beule, Peter Kühnen, Harald Stachelscheid
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103256- (2023)
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is characterized by severely impaired psychomotor development and is caused by mutations in the SLC16A2 gene encoding the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). By targeting
Externí odkaz:
https://doaj.org/article/a6e5ed35531a456eaf4c063c590faf3c
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. Case presentation T
Externí odkaz:
https://doaj.org/article/f45e96853c22423fa30bdf4ef1e6c707
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveThe aim of this study was to identify causative variants associated with Allan-Herndon-Dudley syndrome (AHDS) in two unrelated Chinese families, and to determine their potential pathogenicity. We also summarized the core clinical symptoms of
Externí odkaz:
https://doaj.org/article/2d94134f977c4891bddcbf54dfeaf357
Akademický článek
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Autor:
Devon Siemes, Pieter Vancamp, Boyka Markova, Philippa Spangenberg, Olga Shevchuk, Bente Siebels, Hartmut Schlüter, Steffen Mayerl, Heike Heuer, Daniel Robert Engel
Publikováno v:
Cells, Vol 12, Iss 20, p 2487 (2023)
Thyroid hormone (TH) transporter MCT8 deficiency causes severe locomotor disabilities likely due to insufficient TH transport across brain barriers and, consequently, compromised neural TH action. As an established animal model for this disease, Mct8
Externí odkaz:
https://doaj.org/article/9daf7929363549849adde0c41515077e
Autor:
Ji Yeon Han, Seungbok Lee, Hyewon Woo, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae
Publikováno v:
Annals of Child Neurology, Vol 29, Iss 4, Pp 149-158 (2021)
Purpose The purpose of this study was to expand our understanding of phenotypic and genetic variation in Allan-Herndon-Dudley syndrome (AHDS), which is a rare X-linked mental retardation syndrome characterized by hypotonia, generalized spasticity, an
Externí odkaz:
https://doaj.org/article/e9974141d72343a589a1fa9a051a5f6e
Autor:
Shahab Noorian, Sepideh Hamzehlou, Ali Rabbani, Arya Sotoudeh, Kioumars Pour Rostami, Shahram Savad
Publikováno v:
Basic and Clinical Neuroscience, Vol 12, Iss 4, Pp 563-568 (2021)
Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic varia
Externí odkaz:
https://doaj.org/article/fb63f76045ee4c94861c790665d6b0e4
Autor:
Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100879- (2022)
Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder tha
Externí odkaz:
https://doaj.org/article/2d8ce356c2b2446e9648067f9eaacfbe