Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
about
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutationsPurification, crystallization and preliminary X-ray diffraction analysis of the CBS-domain pair from the Methanococcus jannaschii protein MJ0100Molecular mechanisms and regulation of urinary acidificationBartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscleGenetics of type III Bartter syndrome in Spain, proposed diagnostic algorithmCalcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membraneSystematic analysis of insertions and deletions specific to nematode proteins and their proposed functional and evolutionary relevance.Genome wide expression analysis of CBS domain containing proteins in Arabidopsis thaliana (L.) Heynh and Oryza sativa L. reveals their developmental and stress regulationPurification, crystallization and preliminary crystallographic analysis of protein MJ1225 from Methanocaldococcus jannaschii, a putative archaeal homologue of gamma-AMPKA mathematical model of rat ascending Henle limb. III. Tubular function.Childhood Bartter's syndrome: An Indian case series.Physiology and pathophysiology of ClC-K/barttin channels.A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administrationA severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.Ion channels in renal disease.Molecular switch for CLC-K Cl- channel block/activation: optimal pharmacophoric requirements towards high-affinity ligandsGitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.Translational read-through of a nonsense mutation causing Bartter syndrome.A comprehensive guide to the ROMK potassium channel: form and function in health and disease.Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.Primary molecular disorders and secondary biological adaptations in bartter syndrome.Inherited and acquired disorders of magnesium homeostasis.In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.A chloride channel at the basolateral membrane of the distal-convoluted tubule: a candidate ClC-K channel.SLC26A11 (KBAT) in Purkinje Cells Is Critical for Inhibitory Transmission and Contributes to Locomotor CoordinationThe ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Clinical and Genetic Spectrum of Bartter Syndrome Type 3.Mutation spectrum of Chinese patients with Bartter syndrome.Bartter syndrome-like phenotype in a patient with diabetes: a case report
P2860
Q24614590-0FE5BB42-FE92-44C0-A202-EEAC0D27425FQ24654267-4EE604D8-8A5D-4722-A528-7403124F7494Q26823086-56E63A0E-A61E-4A81-958E-AE21EE3F0593Q27693302-FE1B3D7C-2726-4D6A-8508-37303430C0FCQ28069661-184FB640-2E32-4DF9-ACBF-9641E2FD096CQ28533619-1756DCB5-146E-4EFD-AC34-92F181DB38C0Q28569730-82FEA1C3-FD8F-4F76-AE1F-07DA21472B0BQ30845345-59A13062-6A8D-4D01-B351-769DD3DC6416Q33403657-D87E8C19-E05E-43C9-B71B-2B99E911575AQ33436053-88BEB8EB-BCC5-420F-92C7-456B66BB4572Q33490081-43FAB98C-4EE0-4F78-90E9-44EC3D351221Q33727850-1899D146-77AB-480E-BF14-FCFE157430A1Q34435223-A39170E0-216B-485B-8228-B5B5646242AAQ34691858-42E14457-A7FB-4A8D-B38C-2DDDC5EE1253Q34880742-DA8B7DCE-7FB8-41AC-B3ED-3098C92BFAD6Q35227562-FE8A4BEB-B2EA-4BD2-A552-7CF3D28F91ADQ36306188-8A5909AE-6F97-4BF3-89CF-271C4EA57C57Q36439177-19796EA3-FDEC-4A26-B841-0ACD863FCA21Q36446249-507715FD-F984-4258-B87D-832C5E1E630BQ36705399-31D32AEC-261C-487F-B7A8-1513EE4EBCCCQ36917134-3F71EB3D-576C-40C8-A6E7-6FAA52D7C162Q37417264-DC63EA39-FBB1-4325-81F4-2048610B4463Q37687103-2D9D1C6E-86E9-4C93-AA7C-3EB21EAC5AB2Q38533659-D5A7C114-6039-4193-86EC-E2A2CFD01420Q39025913-6B356D6C-262E-42CF-9FEC-25974019C368Q41243043-4DB76F25-FD20-426D-BBAB-013B9591376FQ41673622-D9AC0D67-C942-493D-A79C-962E5479DC0AQ41829540-85CE05F3-0872-47CA-8786-FA2D51546C76Q41920544-177897AC-EFEA-40BD-AD93-3B0E2D48F41AQ41971911-84099981-4BC0-44CF-9A85-39B79D3F9B45Q42281905-8E3BD267-3926-4C8E-8661-2FDBC5BCAE0CQ47152213-2D3E8409-2170-4A88-A5DD-119478AC0830Q47577129-BBB23E18-FCAC-4FF2-AB5D-1E482152D7D9Q48363172-C99F2AD4-C0CE-410C-8E1E-B33C070DB894Q48524640-95926B19-275C-4264-A134-0C55E1AD1673Q49264676-C8CBE569-9CC8-4722-BBEF-BA23BF574F45Q58771904-AB9038FF-5849-49F4-9D8E-1DD52A0A0983
P2860
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@ast
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@en
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@nl
type
label
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@ast
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@en
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@nl
prefLabel
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@ast
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@en
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@nl
P2093
P3181
P1476
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
@en
P2093
C Antignac
D Feldmann
F Hildebrandt
G Deschênes
H H Lemmink
H W Seyberth
L Guay-Woodford
L P van den Heuvel
P304
P3181
P407
P577
2000-08-01T00:00:00Z