Detalhe da pesquisa
1.
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
Nat Genet
; 14(2): 152-6, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8841184
2.
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.
Nat Genet
; 13(2): 183-8, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8640224
3.
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Nat Genet
; 26(1): 71-5, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973252
4.
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
Nat Genet
; 12(1): 24-30, 1996 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-8528245
5.
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Nat Genet
; 21(1): 84-90, 1999 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9916796
6.
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
J Clin Endocrinol Metab
; 90(3): 1849-55, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15598687
7.
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
J Med Genet
; 40(2): 115-21, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12566520
8.
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
J Med Genet
; 39(11): 796-803, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12414817
9.
[125I]-PD151242: a selective ligand for endothelin ETA receptors in human kidney which localizes to renal vasculature.
Br J Pharmacol
; 113(4): 1303-10, 1994 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-7534185
10.
Endothelin peptides and receptors in human kidney.
Clin Sci (Lond)
; 91(3): 267-73, 1996 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8869408
11.
Mutations contributing to human blood pressure variation.
Recent Prog Horm Res
; 52: 263-76; discussion 276-7, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9238856
12.
Human kidney: endothelin isoforms detected by HPLC with radioimmunoassay and receptor subtypes detected using ligands BQ123 and BQ3020.
J Cardiovasc Pharmacol
; 22 Suppl 8: S29-33, 1993.
Artigo
em Inglês
| MEDLINE | ID: mdl-8121179
13.
Localization of endothelin peptides in human kidney.
Kidney Int
; 49(2): 382-7, 1996 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-8821821
14.
Selective downregulation of ETA receptor mRNA in renal transplant recipients on cyclosporin A revealed by quantitative RT-PCR.
Nephrol Dial Transplant
; 11(10): 1976-82, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8918710
15.
Comparative quantification of endothelin receptor mRNA in human kidney: new tools for direct investigation of human tissue.
J Cardiovasc Pharmacol
; 26 Suppl 3: S268-71, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-8587385
16.
Novel ligands BQ123 and BQ3020 characterize endothelin receptor subtypes ETA and ETB in human kidney.
Kidney Int
; 44(1): 36-42, 1993 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-8355464
17.
Characterization of peptide and nonpeptide antagonists in human kidney.
J Cardiovasc Pharmacol
; 26 Suppl 3: S373-5, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-8587419
18.
Bovril and moclobemide: a novel therapeutic strategy for central autonomic failure.
Lancet
; 344(8932): 1263-5, 1994 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-7967987
19.
An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration.
Kidney Int
; 48(2): 390-401, 1995 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7564106
20.
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene.
J Biol Chem
; 276(45): 42382-8, 2001 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-11495928