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The Journal of Clinical Investigation|September 17, 2005
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidismMichael R Bowl, M Andrew Nesbit, Brian Harding, et al.
The New England Journal of Medicine|June 28, 2013
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaM Andrew Nesbit, Fadil M Hannan, Sarah A Howles, et al.
The Journal of Biological Chemistry|March 20, 2016
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic DisordersValerie N Babinsky, Fadil M Hannan, Caroline M Gorvin, et al.
Molecular Therapy. Nucleic Acids|September 3, 2019
Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating PeptideDavide Schiroli, María J Gómara, Eleonora Maurizi, et al.
Cardiovascular Revascularization Medicine : Including Molecular Interventions|January 27, 2023
Assessment of Indices of Conjunctival Microvascular Function in Patients With and Without Obstructive Coronary Artery DiseaseJonathan A Mailey, Julie S Moore, Paul F Brennan, et al.
Hormones & Cancer|February 26, 2013
GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasivenessKatherine U Gaynor, Irina V Grigorieva, Michael D Allen, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 17, 2020
Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant DiseaseKathleen A Christie, Louise J Robertson, Caroline Conway, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 27, 2023
GNA11 Variants Identified in Patients with Hypercalcemia or HypocalcemiaSarah A Howles, Caroline M Gorvin, Treena Cranston, et al.
Plos One|December 14, 2016
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling PathwayChristopher T Esapa, Sian E Piret, M Andrew Nesbit, et al.
Endocrinology|June 9, 2015
The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)Fadil M Hannan, Gerard V Walls, Valerie N Babinsky, et al.
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