ArticleThe New England journal of medicine2013
Germline mutations affecting Gα11 in hypoparathyroidism.
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Article in The New England journal of medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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37citing papers in PubMed
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Who cites it
37 citing papers in PubMed.
- Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.EMBO molecular medicine · 2025Review
- An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivatingFrontiers in endocrinology · 2024Article
- Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Successful prednisolone or calcimimetic treatment of acquired hypocalciuric hypercalcemia caused by biased allosteric CaSR autoantibodies.JCI insight · 2022Article
- Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2022Article
- Heterogeneity of G protein activation by the calcium-sensing receptor.Journal of molecular endocrinology · 2021Article
- Therapeutic Opportunities of Targeting Allosteric Binding Sites on the Calcium-Sensing Receptor.ACS pharmacology & translational science · 2021Review
- Calcium-sensing receptor signaling - How human disease informs biology.Current opinion in endocrine and metabolic research · 2021Article
- Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.European journal of endocrinology · 2020Article
- Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.JBMR plus · 2020Article
- International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.Pharmacological reviews · 2020Review
- Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.The Journal of clinical endocrinology and metabolism · 2020Article
- Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.Nature reviews. Endocrinology · 2018Review
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
- A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner.The Journal of clinical endocrinology and metabolism · 2018Article
- Heterotrimeric G proteins in the control of parathyroid hormone actions.Journal of molecular endocrinology · 2017Review
- Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2017Article
Corrections and comments
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Authors and funding
10 authors.
Michael Mannstadt
Mark Harris
Bert Bravenboer
Sridhar Chitturi
Koen M A Dreijerink
David G Lambright
Elaine T Lim
Mark J Daly
Stacey Gabriel
Harald Jüppner
Funding
Tissue Phenotyping CoreP01DK011794 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI KEUTMANN, HENRY T · 1986 to 2023
$44.4MPTH/PTHRP RECEPTOR DEFECTS IN PSEUDOHYPOPARATHYROIDISMR01DK046718 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI JUEPPNER, HARALD W. · 1993 to 2024
$6.0MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kDominant-negative GCMB mutations cause hypoparathyroidismK08DK081669 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MANNSTADT, MICHAEL · 2008 to 2012
$798kNHGRI NIH HHS X01 HG006062-01NHLBI NIH HHS HL102923-26NHLBI NIH HHS HL103010NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL103010NIDDK NIH HHS K08 DK081669NIDDK NIH HHS K08DK081669-01NIDDK NIH HHS P01 DK011794NIDDK NIH HHS P01DK11794NIDDK NIH HHS R01 DK046718NIDDK NIH HHS R01DK46718-20
Abstract
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Indexed as
Germ-Line MutationExomeFemaleGenes, DominantGenetic LinkageGenome-Wide Association StudyGTP-Binding Protein alpha SubunitsHumansHypoparathyroidismMaleModels, MolecularPedigreeSequence Analysis, DNAGNA11 protein, humanGTP-Binding Protein alpha Subunits
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.