假性甲状旁腺功能减退症中的母系印记——一种非常罕见的GNAS基因突变遵循此模式。 - Suppr

Maternal Imprinting in Pseudohypoparathyroidism - A Very Rare GNAS Gene Mutation Follows the Pattern.

作者信息

Monica Chakicherla Sai, Karunakar Pediredla, Shivaprasad Mohankumar, Deepthi Bobbity, Gulati Reena

机构信息

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.

出版信息

Indian J Pediatr. 2024 Jan;91(1):95. doi: 10.1007/s12098-023-04787-3. Epub 2023 Aug 7.

DOI:10.1007/s12098-023-04787-3

PMID:37548842

Abstract

摘要

相似文献

Maternal Imprinting in Pseudohypoparathyroidism - A Very Rare GNAS Gene Mutation Follows the Pattern.假性甲状旁腺功能减退症中的母系印记——一种非常罕见的GNAS基因突变遵循此模式。

Indian J Pediatr. 2024 Jan;91(1):95. doi: 10.1007/s12098-023-04787-3. Epub 2023 Aug 7.

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.GNAS 甲基化缺陷相关的假甲状旁腺功能减退症 1B 的镶嵌现象出现在合子后早期。

Clin Epigenetics. 2018 Feb 6;10:16. doi: 10.1186/s13148-018-0449-4. eCollection 2018.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.同一个家族中两种不同的假性甲状旁腺功能减退症亚类（Ia 和 Ib）共存，伴有独立的 Gsα 编码突变和 GNAS 印迹缺陷。

J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26.

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.两例患者中 GNAS 印迹缺陷与 2 号染色体缺失的关联：假性甲状旁腺功能减退症 1B 型/ iPPSD3 表型异质性的解释线索。

Clin Epigenetics. 2019 Jan 7;11(1):3. doi: 10.1186/s13148-018-0607-8.

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.靶向敲除 Nesp55 DMR 定义了另一个 Gnas 印迹控制区，并提供了常染色体显性 PHP-Ib 的小鼠模型。

Proc Natl Acad Sci U S A. 2010 May 18;107(20):9275-80. doi: 10.1073/pnas.0910224107. Epub 2010 Apr 28.

Pseudohypoparathyroidism type 1a caused by a GNAS gene mutation: over 40 years without a proper diagnosis.由GNAS基因突变引起的1a型假性甲状旁腺功能减退：40多年未得到正确诊断。

Pol Arch Intern Med. 2022 Feb 28;132(2). doi: 10.20452/pamw.16153. Epub 2021 Dec 1.

[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.

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.GNAS AS2 甲基化状态可实现 1B 型假性甲状旁腺功能减退症的基于机制的分类。

JCI Insight. 2024 Mar 8;9(5):e177190. doi: 10.1172/jci.insight.177190.

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.家族性和散发性IB型假性甲状旁腺功能减退症中GNAS印记异常的不同模式。

Hum Mol Genet. 2005 Jan 1;14(1):95-102. doi: 10.1093/hmg/ddi009. Epub 2004 Nov 10.

[Pseudohypoparathyroidism type I b and genomic imprinting].

Clin Calcium. 2007 Aug;17(8):1222-7.

本文引用的文献

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.《假性甲状旁腺功能减退症及相关疾病的诊治建议：医师和患者实用更新工具》

Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.假性甲状旁腺功能减退症及相关疾病的诊断与管理：第一份国际共识声明。

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0.

Imprinting in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中的印记现象。

J Med Genet. 1993 Feb;30(2):101-3. doi: 10.1136/jmg.30.2.101.

A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.一名患有奥尔布赖特遗传性骨营养不良症的患者，其Gsα基因（GNAS1）存在杂合性4碱基缺失突变。

Genomics. 1992 Aug;13(4):1319-21. doi: 10.1016/0888-7543(92)90056-x.

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