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93 results on '"SLC16A2"'

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1. Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review

2. Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out

3. Proteome Analysis of Thyroid Hormone Transporter Mct8/Oatp1c1-Deficient Mice Reveals Novel Dysregulated Target Molecules Involved in Locomotor Function.

4. Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.

5. Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

6. TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

7. A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

8. Proteome Analysis of Thyroid Hormone Transporter Mct8/Oatp1c1-Deficient Mice Reveals Novel Dysregulated Target Molecules Involved in Locomotor Function

9. Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

11. The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation

12. A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

13. Thyroid Hormone Transporter MCT10 Is a Novel Regulator of Trabecular Bone Mass and Bone Turnover in Male Mice.

14. Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice

15. TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice

16. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

17. Phenylbutyrate Treatment in a Boy with MCT8 Deficiency: Improvement of Thyroid Function Tests and Possible Livertoxicity.

18. Distinct Actions of the Thyroid Hormone Transporters Mct8 and Oatp1c1 in Murine Adult Hippocampal Neurogenesis

19. Tissue-Specific Function of Thyroid Hormone Transporters: New Insights from Mouse Models.

20. Lack of the Thyroid Hormone Transporter Mct8 in Osteoblast and Osteoclast Progenitors Increases Trabecular Bone in Male Mice.

21. Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.

22. Thyroid hormone transporter defect: Allan Herndon Dudley Syndrome, masquerading as dyskinetic cerebral palsy.

23. Functions of the Thyroid-Stimulating Hormone on Key Developmental Features Revealed in a Series of Zebrafish Dyshormonogenesis Models

24. Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

25. Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

26. Molekulare und phänotypische Charakterisierung zweier monogener Entwicklungsstörungen des Nervensystems

27. The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation

28. Thyroid hormone transporter Mct8/Oatp1c1 deficiency compromises proper oligodendrocyte maturation in the mouse CNS.

29. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

30. Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

31. Thoughts about SLC16A2, TSIX and XIST gene like sites in the human genome and a potential role in cellular chromosome counting.

32. Functions of the Thyroid-Stimulating Hormone on Key Developmental Features Revealed in a Series of Zebrafish Dyshormonogenesis Models

33. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

34. Bone cell-specific deletion of thyroid hormone transporter Mct8 distinctly regulates bone volume in young versus adult male mice.

35. Hippocampal neurogenesis requires cell-autonomous thyroid hormone signaling

36. Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene.

37. Distinct Actions of the Thyroid Hormone Transporters Mct8 and Oatp1c1 in Murine Adult Hippocampal Neurogenesis.

38. The pathophysiological consequences of thyroid hormone transporter deficiencies: Insights from mouse models.

39. Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.

40. Thyroid Hormone Transporter Deficiency in Mice Impacts Multiple Stages of GABAergic Interneuron Development.

41. The Thyroid Hormone Transporter MCT10 Is a Novel Regulator of Trabecular Bone Mass and Bone Turnover in Male Mice.

42. A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome.

43. Functions of the Thyroid-Stimulating Hormone on Key Developmental Features Revealed in a Series of Zebrafish Dyshormonogenesis Models.

44. Thyroid Hormone Transporters MCT8 and OATP1C1 Control Skeletal Muscle Regeneration

45. The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation.

46. Hippocampal Neurogenesis Requires Cell-Autonomous Thyroid Hormone Signaling.

47. Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations

48. Thyroid Hormone Transporters MCT8 and OATP1C1 Control Skeletal Muscle Regeneration.

49. High T3, Low T4 Serum Levels in Mct8 Deficiency Are Not Caused by Increased Hepatic Conversion through Type I Deiodinase.

50. A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

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