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For: Gorvin CM, Rogers A, Stewart M, Paudyal A, Hough TA, Teboul L, Wells S, Brown SD, Cox RD, Thakker RV. N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice. JBMR Plus 2017;1:3-15. [PMID: 29479578 DOI: 10.1002/jbm4.10001] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
1 Howles SA, Hannan FM, Gorvin CM, Piret SE, Paudyal A, Stewart M, Hough TA, Nesbit MA, Wells S, Brown SD, Cox RD, Thakker RV. Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation. JCI Insight 2017;2:96540. [PMID: 29046478 DOI: 10.1172/jci.insight.96540] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
2 Gorvin CM. Genetic causes of neonatal and infantile hypercalcaemia. Pediatr Nephrol 2021. [PMID: 33990852 DOI: 10.1007/s00467-021-05082-z] [Reference Citation Analysis]
3 Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV. Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling. Hum Mol Genet 2018;27:901-11. [PMID: 29325022 DOI: 10.1093/hmg/ddy010] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
4 Marx SJ, Goltzman D. Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective. J Bone Miner Res 2019;34:22-37. [PMID: 30536424 DOI: 10.1002/jbmr.3650] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 4.5] [Reference Citation Analysis]
5 Gorvin CM, Ahmad BN, Stechman MJ, Loh NY, Hough TA, Leo P, Marshall M, Sethi S, Bentley L, Piret SE, Reed A, Jeyabalan J, Christie PT, Wells S, Simon MM, Mallon AM, Schulz H, Huebner N, Brown MA, Cox RD, Brown SD, Thakker RV. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. J Bone Miner Res 2019;34:497-507. [PMID: 30395686 DOI: 10.1002/jbmr.3624] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
6 Dharmaraj P, Gorvin CM, Soni A, Nelhans ND, Olesen MK, Boon H, Cranston T, Thakker RV, Hannan FM. Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). J Clin Endocrinol Metab 2020;105:dgaa111. [PMID: 32150253 DOI: 10.1210/clinem/dgaa111] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
7 Abdalla E, Alawi M, Meinecke P, Kutsche K, Harms FL. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype. Am J Med Genet A 2022. [PMID: 35451546 DOI: 10.1002/ajmg.a.62762] [Reference Citation Analysis]
8 Gorvin CM, Stokes VJ, Boon H, Cranston T, Glück AK, Bahl S, Homfray T, Aung T, Shine B, Lines KE, Hannan FM, Thakker RV. Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2. J Clin Endocrinol Metab 2020;105:dgz251. [PMID: 31820785 DOI: 10.1210/clinem/dgz251] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Azarnia Tehran D, López-Hernández T, Maritzen T. Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations. Cells 2019;8:E1345. [PMID: 31671891 DOI: 10.3390/cells8111345] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 3.7] [Reference Citation Analysis]