Associated Papers
Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.
Jiang Y et al.
Osteoporosis and Sarcopenia, 2025
Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.
Höppner J et al.
Current Opinion in Nephrology and Hypertension, 2024
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.
Mukhtar N et al.
Frontiers in Endocrinology, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Lee JH et al.
Vitamins and Hormones, 2022
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
Gild ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.
Lee JH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Genetic Disorders of Parathyroid Development and Function.
Gordon RJ et al.
Endocrinology and Metabolism Clinics of North America, 2018
Positive charge in the n-region of the signal peptide contributes to efficient post-translational translocation of small secretory preproteins.
Guo H et al.
The Journal of Biological Chemistry, 2018
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque L et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.
Datta R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.
Sakurai K et al.
Molecular Psychiatry, 2002
Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.
Deladoëy J et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996