LW DYH YJL. Performed the experiments: DYH HCC CLL. Analyzed the

LW DYH YJL. Performed the experiments: DYH HCC CLL. Analyzed the

LW DYH YJL. Performed the experiments: DYH HCC CLL. Analyzed the data: DYH YLW YJL. Contributed reagents/materials/analysis tools: YLW HPH WHT CYH WYT MCC FSL JDT SY SLS SPL. Wrote the paper: YLW DYH YJL. Reseached clinical data: YLW HPH WHT CYH WYT MCC FSL JDT SY SLS SPL. Mutations inside the Maternal Allele of the GNAS Gene All of our PHP1A individuals had mental retardation and 80% had major hypothyroidism with elevated TSH levels. Our findings corroborate prior reports displaying that hypothyroidism was present inside the majority of patients even at their initial presentation References 1. Albright F, Burnett CH, Smith PH, Parson W Pseudohypoparathyroidism: an instance of Seabright-Bantam syndrome. Autophagy Endocrinology 6: 922932. two. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA Development hormone deficiency in pseudohypoparathyroidism form 1a: yet another manifestation of multihormone resistance. J Clin Endocrinol Metab 88: 4059 4069. 3. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, et al. Molecular analysis on the GNAS1 gene for the right diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 53: 749 755. four. Thiele S, de Sanctis L, Werner R, Grotzinger J, Aydin C, et al. Functional characterization of GNAS mutations identified in patients with pseudohypopara- 8 Mutations in Pseudohypoparathyroidism 5. 6. 7. 8. 9. ten. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. 30. thyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction. Hum Mutat 32: 653660. Bringhurst FR, Demay MB, Kronenberg HM Hormones and issues of mineral metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, editors. Williams Textbook of Endocrinology. 12th ed. Philadelphia: Epigenetics Saunders Elsevier. 12371304. Kozasa T, Itoh H, Tsukamoto T, Kazino Y Isolation and characterization of your human Gs alpha gene. Proc Natl Acad Sci U S A 85: 20812085. Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, et al. Genetic deficiency of your alpha subunit from the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci U S A 85: 617621. Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, et al. Resistance to several hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74: 545556. Mantovani G Clinical overview: Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab 96: 30203030. Linglart A, Maupetit-Mehouas S, Silve C GNAS -Related Loss-ofFunction Issues as well as the Role of Imprinting. Horm Res Paediatr: 119129. Bastepe M 11967625 Genetics and epigenetics of parathyroid hormone resistance. Endocr Dev 24: 1124. Linglart A, Carel JC, Garabedian M, Le T, Mallet E, et al. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and proof from the maternal transmission from the hormonal resistance. J Clin Endocrinol Metab 87: 189197. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism sort Ib redefines the boundaries of a cis-acting imprinting manage element of GNAS. Am J Hum Genet 76: 804814. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism form Ib. Nat Genet 37:.LW DYH YJL. Performed the experiments: DYH HCC CLL. Analyzed the information: DYH YLW YJL. Contributed reagents/materials/analysis tools: YLW HPH WHT CYH WYT MCC FSL JDT SY SLS SPL. Wrote the paper: YLW DYH YJL. Reseached clinical data: YLW HPH WHT CYH WYT MCC FSL JDT SY SLS SPL. Mutations within the Maternal Allele from the GNAS Gene All of our PHP1A individuals had mental retardation and 80% had main hypothyroidism with elevated TSH levels. Our findings corroborate earlier reports showing that hypothyroidism was present within the majority of sufferers even at their initial presentation References 1. Albright F, Burnett CH, Smith PH, Parson W Pseudohypoparathyroidism: an instance of Seabright-Bantam syndrome. Endocrinology six: 922932. 2. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA Development hormone deficiency in pseudohypoparathyroidism variety 1a: a different manifestation of multihormone resistance. J Clin Endocrinol Metab 88: 4059 4069. three. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, et al. Molecular analysis from the GNAS1 gene for the appropriate diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 53: 749 755. four. Thiele S, de Sanctis L, Werner R, Grotzinger J, Aydin C, et al. Functional characterization of GNAS mutations discovered in individuals with pseudohypopara- eight Mutations in Pseudohypoparathyroidism 5. six. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. 30. thyroidism sort Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction. Hum Mutat 32: 653660. Bringhurst FR, Demay MB, Kronenberg HM Hormones and problems of mineral metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, editors. Williams Textbook of Endocrinology. 12th ed. Philadelphia: Saunders Elsevier. 12371304. Kozasa T, Itoh H, Tsukamoto T, Kazino Y Isolation and characterization from the human Gs alpha gene. Proc Natl Acad Sci U S A 85: 20812085. Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, et al. Genetic deficiency from the alpha subunit in the guanine nucleotide-binding protein Gs because the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci U S A 85: 617621. Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, et al. Resistance to numerous hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74: 545556. Mantovani G Clinical assessment: Pseudohypoparathyroidism: diagnosis and therapy. J Clin Endocrinol Metab 96: 30203030. Linglart A, Maupetit-Mehouas S, Silve C GNAS -Related Loss-ofFunction Problems and also the Part of Imprinting. Horm Res Paediatr: 119129. Bastepe M 11967625 Genetics and epigenetics of parathyroid hormone resistance. Endocr Dev 24: 1124. Linglart A, Carel JC, Garabedian M, Le T, Mallet E, et al. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and proof of your maternal transmission on the hormonal resistance. J Clin Endocrinol Metab 87: 189197. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism kind Ib redefines the boundaries of a cis-acting imprinting handle element of GNAS. Am J Hum Genet 76: 804814. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, et al. Deletion on the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism variety Ib. Nat Genet 37:.

Proton-pump inhibitor

Website: