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Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.

作者信息

Bastepe Murat, Jüppner Harald

出版信息

J Clin Endocrinol Metab. 2003 Sep;88(9):4055-8. doi: 10.1210/jc.2003-031271.

DOI:10.1210/jc.2003-031271
PMID:12970261
Abstract
摘要

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Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.社论：假性甲状旁腺功能减退症及对多种激素的抵抗机制：从分子证据到临床表现
J Clin Endocrinol Metab. 2003 Sep;88(9):4055-8. doi: 10.1210/jc.2003-031271.
2
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.刺激性G蛋白α亚基Gsα在人类甲状腺中存在印记：对1A型和1B型假性甲状旁腺功能减退症甲状腺功能的影响。
J Clin Endocrinol Metab. 2003 Sep;88(9):4336-41. doi: 10.1210/jc.2003-030393.
3
[Pseudohypoparathyroidism].
Nihon Rinsho. 2005 Oct;63 Suppl 10:352-6.
4
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.一名患有IB型假性甲状旁腺功能减退症和青少年肾素依赖性高血压的智障年轻女性存在完全偏态的X染色体失活。
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Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.NESP55差异甲基化区域的缺失导致母源GNAS印记丢失及I b型假甲状旁腺功能减退症。
Nat Genet. 2005 Jan;37(1):25-7. doi: 10.1038/ng1487. Epub 2004 Dec 12.
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Mutations in the Gs alpha gene causing hormone resistance.导致激素抵抗的Gsα基因突变。
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[Progress in diagnosis and therapy: Hypocalcemia due to pseudohypoparathyroidism].[诊断与治疗进展：假性甲状旁腺功能减退所致低钙血症]
Nihon Naika Gakkai Zasshi. 2007 Apr 10;96(4):713-8. doi: 10.2169/naika.96.713.
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[Pseudohypoparathyroidism type I b and genomic imprinting].
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Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.希腊一个家族中Ib型假性甲状旁腺功能减退症的表型和分子遗传学特征：甲状旁腺激素抵抗导致尿酸排泄增加的证据
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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.假性甲状旁腺功能减退症患者GNAS的表观遗传缺陷及Albright遗传性骨营养不良的轻微特征
J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3.

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Parental Origin of Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy.失活的亲本来源对奥尔布赖特遗传性骨营养不良小鼠模型中的骨重塑有不同影响。
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DNA Methylation in the Diagnosis of Monogenic Diseases.DNA甲基化在单基因疾病诊断中的应用
Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355.
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Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?新生儿期和婴儿期低钙血症的临床处理：谁需要治疗？
Int J Pediatr. 2019 Jun 19;2019:4318075. doi: 10.1155/2019/4318075. eCollection 2019.
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.欧洲关于非由GNAS基因位点突变引起的假性甲状旁腺功能减退症分子诊断的指南：一项室间质量评价研究
Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9.
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Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.中国汉族人群中假性甲状旁腺功能减退1a型和假假性甲状旁腺功能减退的基因突变
PLoS One. 2014 Mar 20;9(3):e90640. doi: 10.1371/journal.pone.0090640. eCollection 2014.
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Identification of a novel mutation in a pseudohypoparathyroidism family.鉴定一个假性甲状旁腺功能减退症家系的新型突变。
Int J Endocrinol. 2011;2011:509549. doi: 10.1155/2011/509549. Epub 2011 Jul 21.
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Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.阿-希二氏遗传性骨营养不良中腕管综合征发病率增高。
J Clin Endocrinol Metab. 2011 Jul;96(7):2065-73. doi: 10.1210/jc.2011-0013. Epub 2011 Apr 27.
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A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.一种导致伴有先天性甲状腺功能减退和皮肤骨瘤的假性甲状旁腺功能减退1A的新型突变。
J Clin Res Pediatr Endocrinol. 2009;1(5):244-7. doi: 10.4274/jcrpe.v1i5.244. Epub 2009 Aug 6.
9
Diagnosis and management of hypocalcaemia.低钙血症的诊断与管理
BMJ. 2008 Jun 7;336(7656):1298-302. doi: 10.1136/bmj.39582.589433.BE.
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Clinical heterogeneity of familial pseudohypoparathyroidism.家族性假性甲状旁腺功能减退症的临床异质性。
J Endocrinol Invest. 2006 Jan;29(1):94-6. doi: 10.1007/BF03349184.