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甲状旁腺功能减退症的遗传学与动物模型

Genetics and animal models of hypoparathyroidism.

作者信息

Garfield N, Karaplis A C

机构信息

Division of Endocrinology, Dept of Medicine and Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, H3T 1E2, Montréal, Canada.

出版信息

Trends Endocrinol Metab. 2001 Sep;12(7):288-94. doi: 10.1016/s1043-2760(01)00435-0.

Abstract

Hypoparathyroidism is a heterogeneous group of disorders with diverse etiologies. During the past decade, major advances have been made towards unraveling the precise cellular and molecular mechanisms that underlie the pathogenesis of this endocrinopathy. Studies of patients afflicted with the disease and of genetically altered mice with strategically engineered mutations have paved new and exciting avenues of investigation into its causes. While focusing on these discoveries, we review areas of controversy and discuss possible approaches for their resolution.

摘要

甲状旁腺功能减退症是一组病因各异的异质性疾病。在过去十年中,在揭示这种内分泌病发病机制背后的确切细胞和分子机制方面取得了重大进展。对患有该疾病的患者以及具有经策略性工程改造突变的基因改变小鼠的研究,为探究其病因开辟了新的、令人兴奋的研究途径。在关注这些发现的同时,我们回顾了存在争议的领域,并讨论了解决这些争议的可能方法。

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