Literature DB >> 23802536

Germline mutations affecting Gα11 in hypoparathyroidism.

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.   

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Year:  2013        PMID： 23802536      PMCID： PMC3750735          DOI： 10.1056/NEJMc1300278

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

Review 1.  Extracellular calcium sensing and signalling.

Authors:  Aldebaran M Hofer; Edward M Brown
Journal:  Nat Rev Mol Cell Biol       Date:  2003-07       Impact factor: 94.444

Review 2.  Clinical practice. Hypoparathyroidism.

Authors:  Dolores Shoback
Journal:  N Engl J Med       Date:  2008-07-24       Impact factor: 91.245

3.  Parathyroid-specific double knockout of Gq and G11 alpha-subunits leads to a phenotype resembling germline knockout of the extracellular Ca2+ -sensing receptor.

Authors:  Nina Wettschureck; EunAh Lee; Steven K Libutti; Stefan Offermanns; Pamela G Robey; Allen M Spiegel
Journal:  Mol Endocrinol       Date:  2006-09-20

4.  Mutations in GNA11 in uveal melanoma.

Authors:  Catherine D Van Raamsdonk; Klaus G Griewank; Michelle B Crosby; Maria C Garrido; Swapna Vemula; Thomas Wiesner; Anna C Obenauf; Werner Wackernagel; Gary Green; Nancy Bouvier; M Mert Sozen; Gail Baimukanova; Ritu Roy; Adriana Heguy; Igor Dolgalev; Raya Khanin; Klaus Busam; Michael R Speicher; Joan O'Brien; Boris C Bastian
Journal:  N Engl J Med       Date:  2010-11-17       Impact factor: 91.245

5.  A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Authors:  C Ho; D A Conner; M R Pollak; D J Ladd; O Kifor; H B Warren; E M Brown; J G Seidman; C E Seidman
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330
  5 in total
  31 in total

1.  Hypoparathyroidism and central diabetes insipidus: in search of the link.

Authors:  Ori Eyal; Asaf Oren; Harald Jüppner; Raz Somech; Annamaria De Bellis; Michael Mannstadt; Auryan Szalat; Margalit Bleiberg; Yosef Weisman; Naomi Weintrob
Journal:  Eur J Pediatr       Date:  2014-11-04       Impact factor: 3.183

2.  A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Authors:  Giedre Grigelioniene; Pasi I Nevalainen; Monica Reyes; Susanne Thiele; Olta Tafaj; Angelo Molinaro; Rieko Takatani; Marja Ala-Houhala; Daniel Nilsson; Jesper Eisfeldt; Anna Lindstrand; Marie-Laure Kottler; Outi Mäkitie; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2017-02-24       Impact factor: 6.741

3.  Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

Authors:  Geoffrey N Hendy; David E C Cole
Journal:  J Clin Endocrinol Metab       Date:  2013-12       Impact factor: 5.958

4.  Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Authors:  Ugur M Ayturk; Javier A Couto; Steven Hann; John B Mulliken; Kaitlin L Williams; August Yue Huang; Steven J Fishman; Theonia K Boyd; Harry P W Kozakewich; Joyce Bischoff; Arin K Greene; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2016-04-07       Impact factor: 11.025

5.  Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Authors:  Dong Li; Christopher T Gordon; Myriam Oufadem; Jeanne Amiel; Harsh S Kanwar; Marina Bakay; Tiancheng Wang; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2018-11-01       Impact factor: 5.958

6.  A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.

Authors:  Sihoon Lee; Michael Mannstadt; Jun Guo; Seul Min Kim; Hyon-Seung Yi; Ashok Khatri; Thomas Dean; Makoto Okazaki; Thomas J Gardella; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2015-06-08       Impact factor: 6.741

Review 7.  International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Authors:  Katie Leach; Fadil M Hannan; Tracy M Josephs; Andrew N Keller; Thor C Møller; Donald T Ward; Enikö Kallay; Rebecca S Mason; Rajesh V Thakker; Daniela Riccardi; Arthur D Conigrave; Hans Bräuner-Osborne
Journal:  Pharmacol Rev       Date:  2020-07       Impact factor: 25.468

Review 8.  Heterotrimeric G proteins in the control of parathyroid hormone actions.

Authors:  Murat Bastepe; Serap Turan; Qing He
Journal:  J Mol Endocrinol       Date:  2017-05       Impact factor: 5.098

9.  Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

Authors:  Dong Li; Elizabeth A Streeten; Alice Chan; Wint Lwin; Lifeng Tian; Renata Pellegrino da Silva; Cecilia E Kim; Mark S Anderson; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2017-05-01       Impact factor: 5.958

10.  A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Authors:  Monica Reyes; Bert Bravenboer; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2019-01-02       Impact factor: 6.741
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