Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
about
Hereditary isolated renal magnesium loss maps to chromosome 11q23.Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutationsCalcium-sensing receptor 20 years laterIn vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial beniStructure-Based Sequence Alignment of the Transmembrane Domains of All Human GPCRs: Phylogenetic, Structural and Functional ImplicationsLocalisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27Physiology and pathophysiology of the calcium-sensing receptor in the kidneyMutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Primary hyperparathyroidism: pathophysiology and impact on bone.Long-term treatment of 12 children with chronic hypoparathyroidism: a randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium.The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.The Venus flytrap of periplasmic binding proteins: an ancient protein module present in multiple drug receptors.The calcium-sensing receptor and related diseases.Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.A Ca(2+)-sensing receptor mutation causes hypoparathyroidism by increasing receptor sensitivity to Ca2+ and maximal signal transduction.Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism.Genetic causes of hypercalciuric nephrolithiasis.Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation.Hypoparathyroidism and central diabetes insipidus: in search of the link.GPRC6A: Jack of all metabolism (or master of none).A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene.PTH replacement therapy of hypoparathyroidism.Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor.Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate.Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914.
P2860
Q24540066-0EC39AC4-CFBA-417B-A41C-84F21601A5B6Q24648139-A8B4A6F6-29A6-4749-B96A-53B064392326Q26862683-5BF1056F-E601-4D33-B824-B967099F8458Q28379431-06F657B1-9BEE-4923-BBAD-34FFC8B2095DQ28551072-29969555-CA5C-408B-BEE6-8B2A48D54E53Q33681501-F600B119-46FE-482B-A129-06B834A46751Q33727776-4FD039CE-5583-46B1-AAED-9FA17FF4D932Q33919801-4AC89A79-9A6B-412D-83B7-9C0C36F27A90Q33954167-E381F6C0-D975-4EAA-887C-61F69884B5ACQ33984852-2C9F5B99-F197-4046-8F09-2A6F69407012Q34054906-CE272E21-258B-4CAF-9912-2081BC468C41Q34344912-E1FF8017-FDAD-4204-80E6-A6EDF6A206C4Q34461980-1CD90649-5DCD-43D8-957C-17820218F6A4Q34583240-229CC0E3-350F-45F2-9182-EAA85DBB3EB1Q36672702-CEE28E29-4D74-4444-9378-3641AFEB4BCCQ36892834-328BD367-0CBF-414B-A0AB-0E7DD4DA1032Q36938319-E3710A5F-7CBE-427C-8A06-82A66CD2EA3EQ37150805-7769E402-606D-4714-9D3A-D122950146F7Q37157903-A95F4917-EF13-44A4-9726-389DF1C48029Q37166823-2F0F82D8-6489-499E-97A5-048FF247CA79Q37406179-4389F316-28DC-4991-8056-C2EBBC139AD4Q37613880-3B5FDDFB-C0F8-4069-BC1F-444483D88C3BQ37732762-B8280C35-490D-444E-99B7-AC3848506FD7Q38062849-31A13E35-70F9-4543-9D33-9FD6728A6A29Q40173956-CB4FBFE0-70A2-47A4-91BC-585EF263CF86Q40946883-9331B8AD-CC6B-4CEE-A066-19A652D14F77Q40958479-971F4E0E-DF89-47F7-B4F3-3D0D7FC2055DQ42488693-E9B6F714-5B37-49D9-AFF0-88403A88CBB3Q44937464-5DC15CA5-A0E7-409C-9C45-CD871DD272A1Q51491929-A5ECBBF9-4D26-4DCB-A47C-8303953D155EQ52176345-F8A4EAE2-3DB9-4E06-A0D1-953F217A4FE5Q53359387-81696BCC-15C4-4E88-93D7-E6DA8345315C
P2860
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the Ca
@nl
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@ast
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@en
type
label
Mutations in the Ca
@nl
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@ast
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@en
prefLabel
Mutations in the Ca
@nl
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@ast
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@en
P2093
P356
P1476
Mutations in the Ca(2+)-sensin ...... d sporadic hypoparathyroidism.
@en
P2093
Cunningham AW
Cutler GB Jr
Yanovski JA
Zimmerman D
P304
P356
10.1093/HMG/5.5.601
P577
1996-05-01T00:00:00Z