Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
about
Molecules important for thyroid hormone synthesis and action - known facts and future perspectivesDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAllan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) geneMetabolic activation-related CD147-CD98 complexRegulation of the hypothalamic thyrotropin releasing hormone (TRH) neuron by neuronal and peripheral inputsCellular and molecular basis of deiodinase-regulated thyroid hormone signalingScope and limitations of iodothyronine deiodinases in hypothyroidismInherited defects in thyroid hormone cell-membrane transport and metabolismGenetic disorders of thyroid metabolism and brain developmentOn the value of seasonal mammals for identifying mechanisms underlying the control of food intake and body weightRole and Mechanisms of Actions of Thyroid Hormone on the Skeletal DevelopmentThe syndromes of reduced sensitivity to thyroid hormoneAltered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardationFurther Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 MutationDiiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiencyGuidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacementAn evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autismInfluence of maternal thyroid hormones during gestation on fetal brain development.Tissue-specific expression of monocarboxylate transporters during fasting in mice.A protective role for type 3 deiodinase, a thyroid hormone-inactivating enzyme, in cochlear development and auditory function.Hypothyroidism and depression.Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesIn vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiencyMaternal thyroid hormones are essential for neural development in zebrafish.Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distributionMinireview: thyroid hormone transporters: the knowns and the unknowns.Thyroid hormone regulation of metabolismInherited defects of thyroid hormone-cell-membrane transport: review of recent findings.Transport of thyroid hormone in brain.The syndrome of inherited partial SBP2 deficiency in humans.Monocarboxylate transporter 8 expression in the human placenta: the effects of severe intrauterine growth restrictionThyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.Renal localization and regulation by dietary phosphate of the MCT14 orphan transporterParacrine signaling by glial cell-derived triiodothyronine activates neuronal gene expression in the rodent brain and human cells.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study.The monocarboxylate transporter family--Structure and functional characterization.
P2860
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P2860
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Association between mutations ...... inked psychomotor retardation.
@ast
Association between mutations ...... inked psychomotor retardation.
@en
Association between mutations ...... inked psychomotor retardation.
@nl
type
label
Association between mutations ...... inked psychomotor retardation.
@ast
Association between mutations ...... inked psychomotor retardation.
@en
Association between mutations ...... inked psychomotor retardation.
@nl
prefLabel
Association between mutations ...... inked psychomotor retardation.
@ast
Association between mutations ...... inked psychomotor retardation.
@en
Association between mutations ...... inked psychomotor retardation.
@nl
P2093
P1433
P1476
Association between mutations ...... inked psychomotor retardation.
@en
P2093
Andrew P Halestrap
Annette Grueters
Arpad von Moers
Edith C H Friesema
Edna E Mancilla
George G J M Kuiper
Heike Biebermann
Heiko Krude
Johan Svensson
Josef Koehrle
P304
P356
10.1016/S0140-6736(04)17226-7
P407
P577
2004-10-01T00:00:00Z