226 related articles for article (PubMed ID: 26818911)
1. Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Piret SE; Gorvin CM; Pagnamenta AT; Howles SA; Cranston T; Rust N; Nesbit MA; Glaser B; Taylor JC; Buchs AE; Hannan FM; Thakker RV
J Bone Miner Res; 2016 Jun; 31(6):1207-14. PubMed ID: 26818911
[TBL] [Abstract][Full Text] [Related]
2. G
Gorvin CM; Hannan FM; Howles SA; Babinsky VN; Piret SE; Rogers A; Freidin AJ; Stewart M; Paudyal A; Hough TA; Nesbit MA; Wells S; Vincent TL; Brown SD; Cox RD; Thakker RV
JCI Insight; 2017 Feb; 2(3):e91103. PubMed ID: 28194447
[TBL] [Abstract][Full Text] [Related]
3. Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Babinsky VN; Hannan FM; Gorvin CM; Howles SA; Nesbit MA; Rust N; Hanyaloglu AC; Hu J; Spiegel AM; Thakker RV
J Biol Chem; 2016 May; 291(20):10876-85. PubMed ID: 26994139
[TBL] [Abstract][Full Text] [Related]
4. Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
Gorvin CM; Stokes VJ; Boon H; Cranston T; Glück AK; Bahl S; Homfray T; Aung T; Shine B; Lines KE; Hannan FM; Thakker RV
J Clin Endocrinol Metab; 2020 Mar; 105(3):952-63. PubMed ID: 31820785
[TBL] [Abstract][Full Text] [Related]
5. A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
Gorvin CM; Cranston T; Hannan FM; Rust N; Qureshi A; Nesbit MA; Thakker RV
J Bone Miner Res; 2016 Jun; 31(6):1200-6. PubMed ID: 26729423
[TBL] [Abstract][Full Text] [Related]
6. GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA; Gorvin CM; Cranston T; Rogers A; Gluck AK; Boon H; Gibson K; Rahman M; Root A; Nesbit MA; Hannan FM; Thakker RV
J Bone Miner Res; 2023 Jun; 38(6):907-917. PubMed ID: 36970776
[TBL] [Abstract][Full Text] [Related]
7. Knockin mouse with mutant G
Roszko KL; Bi R; Gorvin CM; Bräuner-Osborne H; Xiong XF; Inoue A; Thakker RV; Strømgaard K; Gardella T; Mannstadt M
JCI Insight; 2017 Feb; 2(3):e91079. PubMed ID: 28194446
[TBL] [Abstract][Full Text] [Related]
8. Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li D; Opas EE; Tuluc F; Metzger DL; Hou C; Hakonarson H; Levine MA
J Clin Endocrinol Metab; 2014 Sep; 99(9):E1774-83. PubMed ID: 24823460
[TBL] [Abstract][Full Text] [Related]
9. The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of
Kwon EJ; Kim MS; Noh ES; Kim CW; Jang J; Choi JH; Cho SY; Jin DK
Ann Clin Lab Sci; 2022 May; 52(3):494-498. PubMed ID: 35777808
[TBL] [Abstract][Full Text] [Related]
10. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.
Tenhola S; Voutilainen R; Reyes M; Toiviainen-Salo S; Jüppner H; Mäkitie O
Eur J Endocrinol; 2016 Sep; 175(3):211-8. PubMed ID: 27334330
[TBL] [Abstract][Full Text] [Related]
11. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA; Hannan FM; Howles SA; Babinsky VN; Head RA; Cranston T; Rust N; Hobbs MR; Heath H; Thakker RV
N Engl J Med; 2013 Jun; 368(26):2476-2486. PubMed ID: 23802516
[TBL] [Abstract][Full Text] [Related]
12. CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V; Valentina D'Elia A; Baorda F; Pazienza V; Benegiamo G; Stanziale P; Copetti M; Battista C; Grimaldi F; Damante G; Pellegrini F; D'Agruma L; Zelante L; Carella M; Scillitani A
Mol Genet Metab; 2012 Nov; 107(3):548-52. PubMed ID: 22789683
[TBL] [Abstract][Full Text] [Related]
13. Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Gorvin CM; Frost M; Malinauskas T; Cranston T; Boon H; Siebold C; Jones EY; Hannan FM; Thakker RV
Hum Mol Genet; 2018 Nov; 27(21):3720-3733. PubMed ID: 30052933
[TBL] [Abstract][Full Text] [Related]
14. Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
Obermannova B; Sumnik Z; Dusatkova P; Cinek O; Grant M; Lebl J; Hendy GN
Eur J Endocrinol; 2016 Apr; 174(4):K1-K11. PubMed ID: 26764418
[TBL] [Abstract][Full Text] [Related]
15. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B; Endo I; Ohnishi Y; Kondo T; Hasegawa T; Amizuka N; Kiyonari H; Shioi G; Abe M; Fukumoto S; Matsumoto T
J Bone Miner Res; 2015 Nov; 30(11):1980-93. PubMed ID: 25967373
[TBL] [Abstract][Full Text] [Related]
16. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.
Kinoshita Y; Hori M; Taguchi M; Watanabe S; Fukumoto S
J Clin Endocrinol Metab; 2014 Feb; 99(2):E363-8. PubMed ID: 24297799
[TBL] [Abstract][Full Text] [Related]
17. Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N; ter Braak M; Saffrich R; Woelfle J; Schmitz U
Mol Cell Endocrinol; 2015 May; 407():18-25. PubMed ID: 25766501
[TBL] [Abstract][Full Text] [Related]
18. A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Gorvin CM; Babinsky VN; Malinauskas T; Nissen PH; Schou AJ; Hanyaloglu AC; Siebold C; Jones EY; Hannan FM; Thakker RV
Sci Signal; 2018 Feb; 11(518):. PubMed ID: 29463778
[TBL] [Abstract][Full Text] [Related]
19. Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.
Ovejero D; Misof BM; Gafni RI; Dempster D; Zhou H; Klaushofer K; Collins MT; Roschger P
J Bone Miner Res; 2019 Apr; 34(4):661-668. PubMed ID: 30496603
[TBL] [Abstract][Full Text] [Related]
20. Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.
Letz S; Haag C; Schulze E; Frank-Raue K; Raue F; Hofner B; Mayr B; Schöfl C
PLoS One; 2014; 9(12):e115178. PubMed ID: 25506941
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]