Literature DB >> 11504667

Genetics and animal models of hypoparathyroidism.

N Garfield1, A C Karaplis.   

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.

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Year:  2001        PMID: 11504667     DOI: 10.1016/s1043-2760(01)00435-0

Source DB:  PubMed          Journal:  Trends Endocrinol Metab        ISSN: 1043-2760            Impact factor:   12.015


  4 in total

1.  Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome.

Authors:  E Passeri; M Frigerio; R Valaperta; E Costa; B Ambrosi; S Corbetta
Journal:  J Endocrinol Invest       Date:  2010-12       Impact factor: 4.256

2.  Successful pregnancies and reduced treatment requirement while breast feeding in a patient with congenital hypoparathyroidism due to homozygous c.68C>A null parathyroid hormone gene mutation.

Authors:  Joanne Dixon; Steven Miller
Journal:  BMJ Case Rep       Date:  2018-05-26

3.  Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

Authors:  Rupak Datta; Abdul Waheed; Gul N Shah; William S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  2007-12-03       Impact factor: 11.205

Review 4.  Hypoparathyroidism: Replacement Therapy with Parathyroid Hormone.

Authors:  Lars Rejnmark; Line Underbjerg; Tanja Sikjaer
Journal:  Endocrinol Metab (Seoul)       Date:  2015-09-22
  4 in total

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