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Items: 1 to 20 of 99

1.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
Sarah A. Howles, Caroline M. Gorvin, Treena Cranston, Angela Rogers, Anna K. Gluck, Hannah Boon, Kate Gibson, Mushtaqur Rahman, Allen Root, M. Andrew Nesbit, Fadil M. Hannan, Rajesh V. Thakker
J Bone Miner Res. 2023 Jun; 38(6): 907–917. Published online 2023 Apr 18. doi: 10.1002/jbmr.4803
PMCID:
PMC10947407
ArticlePDF–2.5M
2.
Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome
Jeremy Thorpe, Laurence P. Frelin, Meghan McCann, Carlos A. Pardo, Bernard A. Cohen, Anne M. Comi, Jonathan Pevsner
J Invest Dermatol. Author manuscript; available in PMC 2022 Mar 1.
Published in final edited form as: J Invest Dermatol. 2021 Mar; 141(3): 685–688. Published online 2020 Aug 7. doi: 10.1016/j.jid.2020.03.978
PMCID:
PMC8483769
ArticlePDF–553K
3.
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses
Satyamaanasa Polubothu, Lara Al-Olabi, Maria Carmen del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jiménez-Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antonio Torrelo, Sarah Aylett, Veronica A. Kinsler
J Invest Dermatol. 2020 May; 140(5): 1110–1113. doi: 10.1016/j.jid.2019.10.019
PMCID:
PMC7187890
ArticlePDF–419K
4.
Sporadic melanotic schwannoma overlapping with features of melanocytoma bearing a GNA11 mutation in an adolescent girl
Christina Tatsi, Flora Bacopoulou, Charalampos Lyssikatos, Elena Belyavskaya, Fabio Faucz, Constantine A. Stratakis
Pediatr Blood Cancer. Author manuscript; available in PMC 2018 Dec 28.
Published in final edited form as: Pediatr Blood Cancer. 2017 Jun; 64(6): 10.1002/pbc.26400. Published online 2016 Dec 24. doi: 10.1002/pbc.26400
PMCID:
PMC6309823
ArticlePDF–473K
5.
A Somatic GNA11 Mutation is Associated with Extremity Capillary Malformation and Overgrowth
Javier A. Couto, Ugur M. Ayturk, Dennis J. Konczyk, Jeremy A. Goss, August Y. Huang, Steve Hann, Jennifer L. Reeve, Marilyn G. Liang, Joyce Bischoff, Matthew L. Warman, Arin K. Greene
Angiogenesis. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Angiogenesis. 2017 Aug; 20(3): 303–306. Published online 2017 Jan 24. doi: 10.1007/s10456-016-9538-1
PMCID:
PMC5511772
ArticlePDF–325K
6.
Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation
Sirpa Tenhola, Raimo Voutilainen, Monica Reyes, Sanna Toiviainen-Salo, Harald Jüppner, Outi Mäkitie
Eur J Endocrinol. Author manuscript; available in PMC 2016 Dec 11.
Published in final edited form as: Eur J Endocrinol. 2016 Sep; 175(3): 211–218. Published online 2016 Jun 22. doi: 10.1530/EJE-16-0109
PMCID:
PMC5149394
ArticlePDF–1.9M
7.
A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
Caroline M Gorvin, Treena Cranston, Fadil M Hannan, Nigel Rust, Asjid Qureshi, M Andrew Nesbit, Rajesh V Thakker
J Bone Miner Res. 2016 Jun; 31(6): 1200–1206. Published online 2016 Feb 6. doi: 10.1002/jbmr.2778
PMCID:
PMC4949650
ArticlePDF–2.2M
8.
Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)
Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, Sarah A Howles, Treena Cranston, Nigel Rust, M Andrew Nesbit, Ben Glaser, Jenny C Taylor, Andreas E Buchs, Fadil M Hannan, Rajesh V Thakker
J Bone Miner Res. 2016 Jun; 31(6): 1207–1214. Published online 2016 Jun 2. doi: 10.1002/jbmr.2797
PMCID:
PMC4915495
ArticlePDF–1.3M
9.
Heterogeneity revealed by integrated genomic analysis uncovers a molecular switch in malignant uveal melanoma
Mark J. de Lange, Sake I. van Pelt, Mieke Versluis, Ekaterina S. Jordanova, Wilma G.M. Kroes, Claudia Ruivenkamp, Sjoerd H. van der Burg, Grégorius P.M. Luyten, Thorbald van Hall, Martine J. Jager, Pieter A. van der Velden
Oncotarget. 2015 Nov 10; 6(35): 37824–37835. Published online 2015 Oct 8. doi: 10.18632/oncotarget.5637
PMCID:
PMC4741968
ArticlePDF–3.1M
10.
Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization
Dong Li, Evan E. Opas, Florin Tuluc, Daniel L. Metzger, Cuiping Hou, Hakon Hakonarson, Michael A. Levine
J Clin Endocrinol Metab. 2014 Sep; 99(9): E1774–E1783. Published online 2014 May 13. doi: 10.1210/jc.2014-1029
PMCID:
PMC4154081
Article
11.
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
M. Andrew Nesbit, Fadil M. Hannan, Sarah A. Howles, Valerie N. Babinsky, Rosie A. Head, Treena Cranston, Nigel Rust, Maurine R. Hobbs, Hunter Heath, III, Rajesh V. Thakker
N Engl J Med. Author manuscript; available in PMC 2013 Dec 27.
Published in final edited form as: N Engl J Med. 2013 Jun 27; 368(26): 2476–2486. doi: 10.1056/NEJMoa1300253
PMCID:
PMC3773604
ArticlePDF–2.0M
12.
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
N Engl J Med. Author manuscript; available in PMC 2013 Dec 27.
Published in final edited form as: N Engl J Med. 2013 Jun 27; 368(26): 2532–2534. doi: 10.1056/NEJMc1300278
PMCID:
PMC3750735
ArticlePDF–820K
13.
Cardiac Hypertrophy and Heart Failure Development Through Gq and CaM Kinase II Signaling
Shikha Mishra, Haiyun Ling, Michael Grimm, Tong Zhang, Don M. Bers, Joan Heller Brown
J Cardiovasc Pharmacol. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: J Cardiovasc Pharmacol. 2010 Dec; 56(6): 598–603. doi: 10.1097/FJC.0b013e3181e1d263
PMCID:
PMC2947575
ArticlePDF–396K
14.
Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.
H Heath, 3rd, C E Jackson, B Otterud, M F Leppert
Am J Hum Genet. 1993 Jul; 53(1): 193–200.
PMCID:
PMC1682230
ArticlePDF–1.1M
15.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification
Nicole Knöpfel, Davide Zecchin, Hanna Richardson, Satyamaanasa Polubothu, Sara Barberan-Martin, Thomas Cullup, Karolina Gholam, Simon Heales, Steve Krywawych, Pablo López-Balboa, Noreen Muwanga-Nanyonjo, Olumide Ogunbiyi, Clinda Puvirajasinghe, Lea Solman, Katherine Swarbrick, Samira B. Syed, Zubair Tahir, Martin M. Tisdall, Jeremy Allgrove, Alexander D. Chesover, Sarah E. Aylett, Thomas S. Jacques, Fadil M. Hannan, Ulrike Löbel, Robert K. Semple, Rajesh V. Thakker, Veronica A. Kinsler
J Invest Dermatol. 2024 Apr; 144(4): 820–832.e9. doi: 10.1016/j.jid.2023.09.008
PMCID:
PMC11139655
ArticlePDF–3.1M
16.
Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma
Kazutaka Nanba, Amy R. Blinder, Aaron M. Udager, Yuusuke Hirokawa, Takayoshi Miura, Hiroshi Okuno, Koki Moriyoshi, Yuto Yamazaki, Hironobu Sasano, Akihiro Yasoda, Noriko Satoh-Asahara, William E. Rainey, Tetsuya Tagami
Front Endocrinol (Lausanne) 2024; 15: 1286297. Published online 2024 Mar 5. doi: 10.3389/fendo.2024.1286297
PMCID:
PMC10948454
ArticlePDF–6.0M
17.
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ mutations
Catherine K. Gestrich, Mathew P. Vivero, Dennis J. Konczyk, Jeremy A. Goss, Brian I Labow, Gregory D. Pearson, Catherine E. Cottrell, Mariam T. Mathew, Vinay Prasad, Harry P Kozakewich, Christopher DM Fletcher, Arin K. Greene, Alyaa Al-Ibraheemi
Am J Surg Pathol. Author manuscript; available in PMC 2025 Jan 1.
Published in final edited form as: Am J Surg Pathol. 2024 Jan 1; 48(1): 106–111. Published online 2023 Sep 26. doi: 10.1097/PAS.0000000000002127
PMCID:
PMC10843298
ArticlePDF–3.4M
18.
Early‐onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11
Olivia M. T. Davies, Ashley T. Ng, Jennifer Tran, Shoshana Blumenthal, Lisa M. Arkin, Amy J. Nopper, Catherine E. Cottrell, Maria Garzon, Dawn H. Siegel, Ilona J. Frieden, Beth A. Drolet
Pediatr Dermatol. 2022 Nov-Dec; 39(6): 914–919. Published online 2022 Aug 10. doi: 10.1111/pde.15103
PMCID:
PMC10087926
ArticlePDF–1.0M
19.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
Junhua Zhou, Elena A. B. Azizan, Claudia P. Cabrera, Fabio L. Fernandes-Rosa, Sheerazed Boulkroun, Giulia Argentesi, Emily Cottrell, Laurence Amar, Xilin Wu, Sam O’Toole, Emily Goodchild, Alison Marker, Russell Senanayake, Sumedha Garg, Tobias Åkerström, Samuel Backman, Suzanne Jordan, Satyamaanasa Polubothu, Daniel M. Berney, Anna Gluck, Kate E. Lines, Rajesh V. Thakker, Antoinette Tuthill, Caroline Joyce, Juan Pablo Kaski, Fiona E. Karet Frankl, Lou A. Metherell, Ada E. D. Teo, Mark Gurnell, Laila Parvanta, William M. Drake, Eva Wozniak, David Klinzing, Jyn Ling Kuan, Zenia Tiang, Celso E. Gomez Sanchez, Per Hellman, Roger S. Y. Foo, Charles A. Mein, Veronica A. Kinsler, Peyman Björklund, Helen L. Storr, Maria-Christina Zennaro, Morris J. Brown
Nat Genet. Author manuscript; available in PMC 2022 Sep 1.
Published in final edited form as: Nat Genet. 2021 Sep; 53(9): 1360–1372. Published online 2021 Aug 12. doi: 10.1038/s41588-021-00906-y
PMCID:
PMC9082578
ArticlePDF–3.2M
20.
An experimental strategy to probe Gq contribution to signal transduction in living cells
Julian Patt, Judith Alenfelder, Eva Marie Pfeil, Jan Hendrik Voss, Nicole Merten, Funda Eryilmaz, Nina Heycke, Uli Rick, Asuka Inoue, Stefan Kehraus, Xavier Deupi, Christa E. Müller, Gabriele M. König, Max Crüsemann, Evi Kostenis
J Biol Chem. 2021 Jan-Jun; 296: 100472. Published online 2021 Feb 25. doi: 10.1016/j.jbc.2021.100472
PMCID:
PMC8024710
ArticlePDF–3.4M

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