相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism
Monica M. Franca et al.
THYROID (2021)
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused byMCT8Gene Mutation
Samuel Refetoff et al.
THYROID (2021)
Oligodendrocyte progenitor cell maturation is dependent on dual function of MCT8 in the transport of thyroid hormone across brain barriers and the plasma membrane
Gad D. Vatine et al.
GLIA (2021)
Participation of Monocarboxylate Transporter 8, But Not P-Glycoprotein, in Carrier-Mediated Cerebral Elimination of Phenytoin across the Blood-Brain Barrier
Ryuta Jomura et al.
PHARMACEUTICAL RESEARCH (2021)
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series
Ferdy S. van Geest et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)
Thyroid Hormone Transporters
Stefan Groeneweg et al.
ENDOCRINE REVIEWS (2020)
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants
Jiao Fu et al.
THYROID (2020)
Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression
Nina-Maria Wilpert et al.
THYROID (2020)
Hippocampal Neurogenesis Requires Cell-Autonomous Thyroid Hormone Signaling
Steffen Mayerl et al.
STEM CELL REPORTS (2020)
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Pieter Vancamp et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Stefan Groeneweg et al.
LANCET DIABETES & ENDOCRINOLOGY (2020)
Intranasal delivery of Thyroid hormones in MCT8 deficiency
Carmen Grijota-Martinez et al.
PLOS ONE (2020)
Insights Into the Mechanism of MCT8 Oligomerization
Stefan Groeneweg et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2020)
Paradigms of Dynamic Control of Thyroid Hormone Signaling
Antonio C. Bianco et al.
ENDOCRINE REVIEWS (2019)
Thyroid hormone availability in the human fetal brain: novel entry pathways and role of radial glia
Daniela Lopez-Espindola et al.
BRAIN STRUCTURE & FUNCTION (2019)
Adult Mice Lacking Mct8 and Dio2 Proteins Present Alterations in Peripheral Thyroid Hormone Levels and Severe Brain and Motor Skill Impairments
Soledad Barez-Lopez et al.
THYROID (2019)
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
Stefan Groeneweg et al.
LANCET DIABETES & ENDOCRINOLOGY (2019)
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations
Ganaelle Remeran et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2019)
In Vitro Characterization of Human, Mouse, and Zebrafish MCT8 Orthologues
Stefan Groeneweg et al.
THYROID (2019)
Sobetirome and its Amide Prodrug Sob-AM2 Exert Thyromimetic Actions in Mct8-Deficient Brain
Soledad Barez-Lopez et al.
THYROID (2018)
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes
Jin-Ho Choi et al.
HORMONE RESEARCH IN PAEDIATRICS (2018)
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Petter Stromme et al.
THYROID (2018)
Effects of Chemical Chaperones on Thyroid Hormone Transport by MCT8 Mutants in Patient-Derived Fibroblasts
Stefan Groeneweg et al.
ENDOCRINOLOGY (2018)
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome
Doreen Braun et al.
ENDOCRINOLOGY (2017)
An Essential Physiological Role for MCT8 in Bone in Male Mice
Victoria D. Leitch et al.
ENDOCRINOLOGY (2017)
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome
Francesca Novara et al.
HUMAN MUTATION (2017)
Deficiency of the Thyroid Hormone Transporter Monocarboxylate Transporter 8 in Neural Progenitors Impairs Cellular Processes Crucial for Early Corticogenesis
Pieter Vancamp et al.
JOURNAL OF NEUROSCIENCE (2017)
Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes
Stefan Groeneweg et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2017)
Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination
Jae Young Lee et al.
EBIOMEDICINE (2017)
Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier
Gad D. Vatine et al.
CELL STEM CELL (2017)
Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish
David Zada et al.
DISEASE MODELS & MECHANISMS (2016)
Silychristin, a Flavonolignan Derived From the Milk Thistle, Is a Potent Inhibitor of the Thyroid Hormone Transporter MCT8
Joerg Johannes et al.
ENDOCRINOLOGY (2016)
The long N-terminus of the human monocarboxylate transporter 8 is a target of ubiquitin-dependent proteasomal degradation which regulates protein expression and oligomerization capacity
Denise Zwanziger et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2016)
Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice
Hideyuki Iwayama et al.
THYROID (2016)
Triiodothyroacetic Acid Treatment in MCT8 Deficiency: A Word of Nuance
W. Edward Visser et al.
THYROID (2016)
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome
Keiko Shimojima et al.
INTRACTABLE & RARE DISEASES RESEARCH (2016)
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency
Alfonso Massimiliano Ferrara et al.
ENDOCRINOLOGY (2015)
Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones
Doreen Braun et al.
ENDOCRINOLOGY (2015)
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations
Ja Hye Kim et al.
HORMONE RESEARCH IN PAEDIATRICS (2015)
Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies
Maria Gisele Matheus et al.
JOURNAL OF CHILD NEUROLOGY (2015)
Thyroid hormone transporters-functions and clinical implications
Juan Bernal et al.
NATURE REVIEWS ENDOCRINOLOGY (2015)
Deletion of Exon 1 of the SLC16A2 Gene: A Common Occurrence in Patients with Allan-Herndon-Dudley Syndrome
Benilde Garcia-de Teresa et al.
THYROID (2015)
High T-3, Low T-4 Serum Levels in Mct8 Deficiency Are Not Caused by Increased Hepatic Conversion through Type I Deiodinase
Eva K. Wirth et al.
EUROPEAN THYROID JOURNAL (2015)
Placenta Passage of the Thyroid Hormone Analog DITPA to Male Wild-Type and Mct8-Deficient Mice
Alfonso Massimiliano Ferrara et al.
ENDOCRINOLOGY (2014)
Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
Ahmet Anik et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
Daniela Lopez-Espindola et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis
Steffen Mayer et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
In Vitro and Mouse Studies Supporting Therapeutic Utility of Triiodothyroacetic Acid in MCT8 Deficiency
Simone Kersseboom et al.
MOLECULAR ENDOCRINOLOGY (2014)
THYROID HORMONE REGULATION OF METABOLISM
Rashmi Mullur et al.
PHYSIOLOGICAL REVIEWS (2014)
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Anju K. Philips et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation
W. Edward Visser et al.
CLINICAL ENDOCRINOLOGY (2013)
Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3 Levels
Caterina Di Cosmo et al.
ENDOCRINOLOGY (2013)
Tetrac Can Replace Thyroid Hormone During Brain Development in Mouse Mutants Deficient in the Thyroid Hormone Transporter Mct8
Sigrun Horn et al.
ENDOCRINOLOGY (2013)
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation
Yline Capri et al.
HUMAN MUTATION (2013)
Zebrafish as a Model for Monocarboxyl Transporter 8-Deficiency
Gad David Vatine et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings
Jiao Fu et al.
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2013)
Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
Charles F. Verge et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
A Mutation in the Thyroid Hormone Receptor Alpha Gene
Elena Bochukova et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Clinical Phenotype and Mutant TRα1
Alies van Mullem et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities
Hamilton Cabral de Menezes Filho et al.
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA (2011)
Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes
Xiao-Hui Liao et al.
ENDOCRINOLOGY (2011)
A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment
Amnon Zung et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
Artemis D. Gika et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Impact of Monocarboxylate Transporter-8 Deficiency on the Hypothalamus-Pituitary-Thyroid Axis in Mice
Marija Trajkovic-Arsic et al.
ENDOCRINOLOGY (2010)
Elevated TSH levels in a mentally retarded boy
Ellen Crushell et al.
EUROPEAN JOURNAL OF PEDIATRICS (2010)
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion
Caterina Di Cosmo et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation
Oliver Fuchs et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2009)
A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport
Caterina Di Cosmo et al.
ENDOCRINOLOGY (2009)
Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations
W. Edward Visser et al.
HUMAN MUTATION (2009)
Ending Propylthiouracil-Induced Liver Failure in Children.
Scott A. Rivkees et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Tissue-specific mRNA expression profiles of human solute carrier transporter superfamilies
Masuhiro Nishimura et al.
DRUG METABOLISM AND PHARMACOKINETICS (2008)
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8
Jurgen Jansen et al.
ENDOCRINOLOGY (2008)
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Suzanna Gerarda Maria Frints et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8
J. L. Wemeau et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10
Edith C. H. Friesema et al.
MOLECULAR ENDOCRINOLOGY (2008)
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay
Anastasios Papadimitriou et al.
PEDIATRICS (2008)
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
Noriyuki Namba et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8
Marija Trajkovic et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene
V. Herzovich et al.
HORMONE RESEARCH (2007)
Functional neuroanatomy of thyroid hormone feedback in the human hypothalamus and pituitary gland
E Fliers et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2006)
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice
Alexandra M. Dumitrescu et al.
ENDOCRINOLOGY (2006)
Mechanisms of disease: psychomotor retardation and high T-3 levels caused by mutations in monocarboxylate transporter 8
Edith C. H. Friesema et al.
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2006)
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
AM Dumitrescu et al.
NATURE GENETICS (2005)
A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid
H Kakinuma et al.
JOURNAL OF PEDIATRICS (2005)
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8
H Biebermann et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2005)
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
CE Schwartz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus
A Alkemade et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
AM Dumitrescu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
ECH Friesema et al.
LANCET (2004)
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter
ECH Friesema et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Physiological and molecular basis of thyroid hormone action
PM Yen
PHYSIOLOGICAL REVIEWS (2001)