Cargando…

The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia

Detalles Bibliográficos
Autor principal:	Gorvin, Caroline M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9049104/ https://www.ncbi.nlm.nih.gov/pubmed/35506149 http://dx.doi.org/10.1210/jendso/bvac052

Ejemplares similares

Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia
por: Mullin, Benjamin H, et al.
Publicado: (2022)

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
por: Papadopoulou, Anna, et al.
Publicado: (2016)

Heterogeneity of G protein activation by the calcium-sensing receptor
por: Abid, Hasnat Ali, et al.
Publicado: (2021)

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
por: Majumdar, Sachin K., et al.
Publicado: (2020)

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
por: Mastromatteo, Eugenio, et al.
Publicado: (2014)

Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
por: Taki, Katsumi, et al.
Publicado: (2015)

Type 1 Familial Hypocalciuric Hypercalcemia Caused by p.M74L Variant in the Calcium Sensing Receptor (CASR) Gene
por: Antony, McAnto, et al.
Publicado: (2021)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017)

THU236 Mild Asymptomatic Hypercalcemia Secondary To A Novel Calcium-sensing Receptor Mutation
por: Tarkoff, Joshua
Publicado: (2023)

SAT-036 Extracellular Domain Calcium-Sensing Receptor (CaSR) Mutations Leading to Hypercalcemic and Hypocalcemic Disorders Cluster at the Homodimeric Interface
por: Olesen, Mie, et al.
Publicado: (2019)

The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines
por: Lines, Kate E, et al.
Publicado: (2021)

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
por: Woo, Seong Ill, et al.
Publicado: (2006)

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias
por: Gorvin, Caroline M, et al.
Publicado: (2018)

OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling
por: Gluck, Anna K, et al.
Publicado: (2020)

Calcium-Sensing Receptors Mediate Amino Acid Signals From the Liver to Islet Alpha Cells
por: Conigrave, Arthur D, et al.
Publicado: (2023)

Identification of prolactin receptor variants with diverse effects on receptor signalling
por: Gorvin, Caroline M, et al.
Publicado: (2022)

A Tail of Multiple Calcium-sensing Domains
por: Salkoff, Lawrence
Publicado: (2006)

Management of Primary Hyperparathyroidism With Severe Hypercalcemia During the COVID-19 Pandemic
por: Alfadhli, Eman M.
Publicado: (2021)

Disorders of Calcium Metabolism: Hypocalcemia and Hypercalcemia
por: Tinawi, Mohammad
Publicado: (2021)

Making sense of dietary calcium and urinary stone disease
por: Chi, Thomas, et al.
Publicado: (2014)

A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
por: Elamin, Wael F, et al.
Publicado: (2010)

A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia
por: Li, Nan, et al.
Publicado: (2021)

Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1
por: Wang, Xiaohua, et al.
Publicado: (2022)

A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
por: Gorvin, Caroline M, et al.
Publicado: (2016)

SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia
por: Bushman, Jordan, et al.
Publicado: (2020)

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy
por: Babinsky, Valerie N., et al.
Publicado: (2017)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα(11) mutation
por: Howles, Sarah A., et al.
Publicado: (2017)

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
por: Hannan, Fadil M, et al.
Publicado: (2021)

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020)

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy
por: Maltese, Giuseppe, et al.
Publicado: (2017)

Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
por: Höppner, Jakob, et al.
Publicado: (2022)

SAT-497 Importance of OTC Medications in Hypercalcemia
por: Yedla, Niharika, et al.
Publicado: (2019)

Skeletal Calcium Overload in Addition to Nephrocalcinosis in Severe Hypercalcemia
por: Torchinsky, Michael, et al.
Publicado: (2020)

Hypercalcemia Secondary to Antibiotic-Eluting Calcium Sulfate Beads
por: Ahuja, Rohan, et al.
Publicado: (2023)

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders
por: Babinsky, Valerie N., et al.
Publicado: (2016)

The prolactin receptor: Diverse and emerging roles in pathophysiology
por: Gorvin, Caroline M.
Publicado: (2015)

Temperature sensing by the calcium-sensing receptor
por: Brennan, Sarah C., et al.
Publicado: (2023)

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Hannan, Fadil M, et al.
Publicado: (2020)

Specific contributions of the four voltage-sensing domains in L-type calcium channels to gating and modulation
por: Flucher, Bernhard E.
Publicado: (2016)

AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity
por: Gorvin, Caroline M., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_p096b13lt0709jntos13v11hl8