PMC Articles for MedGen (Select 811594) - PMC

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

Abstract Article PDF–2.5M

Select item 104424575.

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics

Amnon Zung, Galia Barash, Ehud Banne, Michael A. Levine

Horm Res Paediatr. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Horm Res Paediatr. 2023; 96(5): 473–482. Published online 2023 Feb 22. doi: 10.1159/000529833

PMCID:: PMC10442457

Abstract Article PDF–1.0M

Select item 98050306.

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review

Kelly L Roszko, Lyndsay M Stapleton Smith, Ananth V Sridhar, Mary Scott Roberts, Iris R Hartley, Rachel I Gafni, Michael T Collins, Jonathan C Fox, Edward F Nemeth

J Bone Miner Res. 2022 Oct; 37(10): 1926–1935. Published online 2022 Aug 22. doi: 10.1002/jbmr.4659

PMCID:: PMC9805030

Abstract Article PDF–1004K

Select item 92808327.

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review

Yingying Wu, Chao Zhang, Xiaojun Huang, Li Cao, Shihua Liu, Ping Zhong

J Int Med Res. 2022 Jul; 50(7): 03000605221110489. Published online 2022 Jul 11. doi: 10.1177/03000605221110489

PMCID:: PMC9280832

Abstract Article PDF–469K

Select item 89355198.

Differential parathyroid and kidney Ca²⁺-sensing receptor activation in autosomal dominant hypocalcemia 1

Wouter H. van Megen, Rebecca Siu Ga Tan, R. Todd Alexander, Henrik Dimke

EBioMedicine. 2022 Apr; 78: 103947. Published online 2022 Mar 18. doi: 10.1016/j.ebiom.2022.103947

PMCID:: PMC8935519

Abstract Article PDF–3.0M

Select item 82383599.

Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report

Yubing Ji, Chunyang Kang, Jiajun Chen, Lei Zhang

Medicine (Baltimore) 2021 Jun 25; 100(25): e26443. Published online 2021 Jun 25. doi: 10.1097/MD.0000000000026443

PMCID:: PMC8238359

Abstract Article PDF–269K

Select item 789360210.

Type-5 Bartter syndrome presenting with metabolic seizure in adulthood

Aqeel Hussain, Mahendra Atlani, Abhishek Goyal, Alkesh Kumar Khurana

BMJ Case Rep. 2021; 14(2): e235349. Published online 2021 Feb 17. doi: 10.1136/bcr-2020-235349

PMCID:: PMC7893602

Abstract Article PDF–165K

Select item 728229511.

Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene

Vânia Gomes, Catarina Silvestre, Florbela Ferreira, Maria João Guerreiro Martins Bugalho

BMJ Case Rep. 2020; 13(6): e234391. Published online 2020 Jun 7. doi: 10.1136/bcr-2020-234391

PMCID:: PMC7282295

Abstract Article PDF–557K

Select item 704868312.

Activating Mutations of the G-protein Subunit α ₁₁ Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

Caroline M Gorvin, Victoria J Stokes, Hannah Boon, Treena Cranston, Anna K Glück, Shailini Bahl, Tessa Homfray, Theingi Aung, Brian Shine, Kate E Lines, Fadil M Hannan, Rajesh V Thakker

J Clin Endocrinol Metab. 2020 Mar; 105(3): 952–963. Published online 2019 Dec 10. doi: 10.1210/clinem/dgz251

PMCID:: PMC7048683

Abstract Article

Select item 674434413.

Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 (SHP635)

Mary Scott Roberts, Rachel I. Gafni, Beth Brillante, Lori C. Guthrie, Jamie Streit, David Gash, Jeff Gelb, Eva Krusinska, Sarah C. Brennan, Martin Schepelmann, Daniela Riccardi, Mohd Ezuan Bin Khayat, Donald T. Ward, Edward F. Nemeth, Ralf Rosskamp, Michael T. Collins

J Bone Miner Res. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: J Bone Miner Res. 2019 Sep; 34(9): 1609–1618. Published online 2019 Jul 26. doi: 10.1002/jbmr.3747

PMCID:: PMC6744344

Abstract Article PDF–656K

Select item 653514314.

Calcium-sensing receptor in physiology and in calcitropic and non-calcitropic diseases

Fadil M. Hannan, Enikö Kallay, Wenhan Chang, Maria Luisa Brandi, Rajesh V. Thakker

Nat Rev Endocrinol. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Nat Rev Endocrinol. 2018 Dec 1; 15(1): 33–51. doi: 10.1038/s41574-018-0115-0

PMCID:: PMC6535143

Abstract Article PDF–1.5M

Select item 619665615.

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

Caroline M Gorvin, Morten Frost, Tomas Malinauskas, Treena Cranston, Hannah Boon, Christian Siebold, E Yvonne Jones, Fadil M Hannan, Rajesh V Thakker

Hum Mol Genet. 2018 Nov 1; 27(21): 3720–3733. Published online 2018 Jul 20. doi: 10.1093/hmg/ddy263

PMCID:: PMC6196656

Abstract Article PDF–24M

Select item 616678516.

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin biased signaling

Caroline M. Gorvin, Valerie N. Babinsky, Tomas Malinauskas, Peter H. Nissen, Anders J. Schou, Aylin C. Hanyaloglu, Christian Siebold, E. Yvonne Jones, Fadil M. Hannan, Rajesh V. Thakker

Sci Signal. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Sci Signal. 2018 Feb 20; 11(518): eaan3714. Published online 2018 Feb 20. doi: 10.1126/scisignal.aan3714

PMCID:: PMC6166785

Abstract Article PDF–2.9M

Select item 548785517.

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

Nir Pillar, Oren Pleniceanu, Mingyan Fang, Limor Ziv, Einat Lahav, Shay Botchan, Le Cheng, Benjamin Dekel, Noam Shomron

Hum Genet. 2017; 136(7): 835–845. Published online 2017 Apr 25. doi: 10.1007/s00439-017-1804-9

PMCID:: PMC5487855

Abstract Article PDF–1.0M

Select item 529174218.

Gα₁₁ mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Caroline M. Gorvin, Fadil M. Hannan, Sarah A. Howles, Valerie N. Babinsky, Sian E. Piret, Angela Rogers, Andrew J. Freidin, Michelle Stewart, Anju Paudyal, Tertius A. Hough, M. Andrew Nesbit, Sara Wells, Tonia L. Vincent, Stephen D.M. Brown, Roger D. Cox, Rajesh V. Thakker

JCI Insight. 2017 Feb 9; 2(3): e91103. Published online 2017 Feb 9. doi: 10.1172/jci.insight.91103

PMCID:: PMC5291742

Abstract Article PDF–1.5M

Select item 526445819.

Diseases associated with calcium-sensing receptor

C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou, M. C. Vantyghem

Orphanet J Rare Dis. 2017; 12: 19. Published online 2017 Jan 25. doi: 10.1186/s13023-017-0570-z

PMCID:: PMC5264458

Abstract Article PDF–467K

Select item 514939420.

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

Abstract Article PDF–1.9M

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Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), transcript variant 2b, mRNA
Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), transcript variant 2b, mRNA
gi|1887789616|ref|NM_016826.3|

Nucleotide
protein 4.2 [Gallus gallus]
protein 4.2 [Gallus gallus]
gi|1010223627|ref|NP_001308488.1|

Protein
cytochrome b5 domain-containing protein 1 isoform 2 [Homo sapiens]
cytochrome b5 domain-containing protein 1 isoform 2 [Homo sapiens]
gi|1052796303|ref|NP_001317039.1|

Protein
MICOS complex subunit MIC13 [Danio rerio]
MICOS complex subunit MIC13 [Danio rerio]
gi|113678245|ref|NP_001038338.1|

Protein

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