Cargando…

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

BACKGROUND: Familial Hyperparathyroidism (HPT) and Familial benign Hypocalciuric Hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia. FHH has been demonstrated to be caused by inactivating mutations of calcium-sensing receptor (CaSR) gene, involved in PTH regulation as well as...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mastromatteo, Eugenio, Lamacchia, Olga, Campo, Michela Rosaria, Conserva, Antonella, Baorda, Filomena, Cinque, Luigia, Guarnieri, Vito, Scillitani, Alfredo, Cignarelli, Mauro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197257/ https://www.ncbi.nlm.nih.gov/pubmed/25292184 http://dx.doi.org/10.1186/1472-6823-14-81

Ejemplares similares

Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis
por: Schoelwer, Melissa J., et al.
Publicado: (2017)

Retrospective Analysis of Endocrine Dysfunctions in a Population of Adult Polytransfused Patients: Correlation of GH-IGF1 Axis Alteration with Cardiac Performance
por: Campo, Michela Rosaria, et al.
Publicado: (2018)

Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI
por: Trejo, Pamela, et al.
Publicado: (2018)

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion
por: Muscarella, Lucia Anna, et al.
Publicado: (2018)

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
por: Guarnieri, Vito, et al.
Publicado: (2017)

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
por: Guarnieri, Vito, et al.
Publicado: (2017)

Pathophysiology of hypercalciuria in children
por: Srivastava, Tarak, et al.
Publicado: (2007)

Random Urinary Calcium/Creatinine Ratio for Screening Hypercalciuria in Children with Hematuria
por: Choi, In Su, et al.
Publicado: (2013)

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma
por: Cinque, Luigia, et al.
Publicado: (2020)

Medullary nephrocalcinosis in idiopathic hypercalciuria
por: Koratala, Abhilash, et al.
Publicado: (2017)

Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors
por: Tavanti, Giulia Stefania, et al.
Publicado: (2021)

Novel association of MEN1 gene mutations with parathyroid carcinoma
por: Cinque, Luigia, et al.
Publicado: (2017)

Calcium-Sensing Receptor and Aquaporin 2 Interplay in Hypercalciuria-Associated Renal Concentrating Defect in Humans. An In Vivo and In Vitro Study
por: Procino, Giuseppe, et al.
Publicado: (2012)

The role of salt abuse on risk for hypercalciuria
por: Damasio, Patrícia CG, et al.
Publicado: (2011)

Vitamin D, Hypercalciuria and Kidney Stones
por: Letavernier, Emmanuel, et al.
Publicado: (2018)

Role of FGF23 in Pediatric Hypercalciuria
por: Moreira Guimarães Penido, Maria Goretti, et al.
Publicado: (2017)

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case
por: Cinque, Luigia, et al.
Publicado: (2017)

Beta‐thalassaemia major: Prevalence, risk factors and clinical consequences of hypercalciuria
por: Aliberti, Ludovica, et al.
Publicado: (2022)

Correction: The role of salt abuse on risk for hypercalciuria
por: Damasio, Patrícia Capuzzo Garcia, et al.
Publicado: (2011)

Is there any correlation between hypercalciuria and nocturnal enuresis?
por: Nikibakhsh, A., et al.
Publicado: (2012)

Hypercalciuria following ceftriaxone a fact or myth
por: Azarfar, Anoush, et al.
Publicado: (2015)

Evaluation of hypercalciuria in patients receiving intravenous Cefotaxime
por: Kalantari, Zahra, et al.
Publicado: (2019)

Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation
por: Margabandhu, S., et al.
Publicado: (2019)

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

The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia
por: Gorvin, Caroline M
Publicado: (2022)

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
por: Cinque, Luigia, et al.
Publicado: (2020)

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene
por: Pazienza, Valerio, et al.
Publicado: (2013)

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5
por: Loh, Nellie Y., et al.
Publicado: (2013)

Hypercalciuria switches Ca(2+) signaling in proximal tubular cells, induces oxidative damage to promote calcium nephrolithiasis
por: Shin, Samuel, et al.
Publicado: (2021)

The prevalence of hypercalciuria in girl kids with over active bladder
por: Yousefichaijan, Parsa, et al.
Publicado: (2015)

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics
por: Claverie-Martin, Felix
Publicado: (2015)

Renal leak; mechanism of hypercalciuria in short-term immobilization
por: Malaki, Majid
Publicado: (2015)

Hypercalciuria in Sarcoidosis: A Specific Biomarker With Clinical Utility
por: Cameli, Paolo, et al.
Publicado: (2020)

Should pediatric idiopathic hypercalciuria be treated with hypocalciuric agents?
por: Penido, Maria Goretti Moreira Guimarães, et al.
Publicado: (2021)

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

Descriptive study of clinical profile and benefit of therapy in childhood hypercalciuria
por: Vijayakumar, Mahalingam, et al.
Publicado: (2014)

The morphological and immunohistochemical spectrum of gastric biopsies of patients with absorptive hypercalciuria
por: Declich, Paolo, et al.
Publicado: (2015)

Hypercalciuria and febrile convulsion in children under 5 years old
por: Gorabi, Vahid Seddighi, et al.
Publicado: (2018)

SUN-391 Denosumab Treatment of Patients with Osteoporosis and Idiopathic Hypercalciuria
por: Chu, Winston S, et al.
Publicado: (2020)

Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series
por: Hanna, Christian, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_gduelr2k2e7jdhpm2bod8e0fls