-
1
-
-
0033967198
-
Structure, mechanism and regulation of the clathrincoated vesicle and yeast vacuolar H(+)-ATPases
-
(2000)
J Exp Biol
, vol.203
, pp. 71-80
-
-
Forgac, M.1
-
4
-
-
0033812944
-
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
-
(2000)
Nat Genet
, vol.26
, pp. 71-75
-
-
Smith, A.N.1
Skaug, J.2
Choate, K.A.3
Nayir, A.4
Bakkaloglu, A.5
Ozen, S.6
Hulton, S.A.7
Sanjad, S.A.8
Al-Sabban, E.A.9
Lifton, R.P.10
Scherer, S.W.11
Karet, F.E.12
-
9
-
-
0035957363
-
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 4221-4226
-
-
Royaux, I.E.1
Wall, S.M.2
Karniski, L.P.3
Everett, L.A.4
Suzuki, K.5
Knepper, M.A.6
Green, E.D.7
-
11
-
-
0035896561
-
3(-) transporter superfamily is an apical anion exchanger of beta-intercalated cells in the kidney
-
(2001)
J Biol Chem
, vol.276
, pp. 8180-8189
-
-
Tsuganezawa, H.1
Kobayashi, K.2
Iyori, M.3
Araki, T.4
Koizumi, A.5
Watanabe, S.6
Kaneko, A.7
Fukao, T.8
Monkawa, T.9
Yoshida, T.10
Kim, D.K.11
Kanai, Y.12
Endou, H.13
Hayashi, M.14
Saruta, T.15
-
15
-
-
0022490838
-
Segmental characterization of defects in collecting tubule acidification
-
(1986)
Kidney Int
, vol.30
, pp. 546-554
-
-
Batlle, D.C.1
-
19
-
-
0035324578
-
Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases
-
(2001)
Acta Radiol
, vol.42
, pp. 320-322
-
-
Berrettini, S.1
Neri, E.2
Forli, F.3
Panconi, M.4
Massimetti, M.5
Ravecca, F.6
Sellari-Franceschini, S.7
Bartolozzi, C.8
-
20
-
-
0031894359
-
Radiological malformations of the ear in Pendred syndrome
-
(1998)
Clin Radiol
, vol.53
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
Luxon, L.M.4
Grossman, A.B.5
Britton, K.E.6
Kendall-Taylor, P.7
Graham, J.M.8
Cadge, B.C.9
Stephens, S.G.10
Pembrey, M.E.11
Reardon, W.12
-
21
-
-
0028990685
-
Phenotypic manifestations of branchio-oto-renal syndrome
-
(1995)
Am J Med Genet
, vol.58
, pp. 365-370
-
-
Chen, A.1
Francis, M.2
Ni, L.3
Cremers, C.W.4
Kimberling, W.J.5
Sato, Y.6
Phelps, P.D.7
Bellman, S.C.8
Wagner, M.J.9
Pembrey, M.10
-
22
-
-
0030923557
-
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
-
(1997)
J Clin Invest
, vol.100
, pp. 1693-1707
-
-
Bruce, L.J.1
Cope, D.L.2
Jones, G.K.3
Schofield, A.E.4
Burley, M.5
Povey, S.6
Unwin, R.J.7
Wrong, O.8
Tanner, M.J.9
-
23
-
-
0032513292
-
- exchanger
-
(1998)
J Biol Chem
, vol.273
, pp. 6380-6388
-
-
Jarolim, P.1
Shayakul, C.2
Prabakaran, D.3
Jiang, L.4
Stuart-Tilley, A.5
Rubin, H.L.6
Simova, S.7
Zavadil, J.8
Herrin, J.T.9
Brouillette, J.10
Somers, M.J.11
Seemanova, E.12
Brugnara, C.13
Guay-Woodford, L.M.14
Alper, S.L.15
-
24
-
-
13144262840
-
Mutations in the chloride-bicarbonate exchanger gene AE 1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6337-6342
-
-
Karet, F.E.1
Gainza, F.J.2
Gyory, A.Z.3
Unwin, R.J.4
Wrong, O.5
Tanner, M.J.6
Nayir, A.7
Alpay, H.8
Santos, F.9
Hulton, S.A.10
Bakkaloglu, A.11
Ozen, S.12
Cunningham, M.J.13
Di Pietro, A.14
Walker, W.G.15
Lifton, R.P.16
-
30
-
-
10544253080
-
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency
-
(1996)
Blood
, vol.88
, pp. 4366-4374
-
-
Jarolim, P.1
Murray, J.L.2
Rubin, H.L.3
Taylor, W.M.4
Prchal, J.T.5
Ballas, S.K.6
Snyder, L.M.7
Chrobak, L.8
Melrose, W.D.9
Brabec, V.10
Palek, J.11
-
31
-
-
0033017395
-
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis
-
(1999)
Am J Kidney Dis
, vol.33
, pp. 1147-1152
-
-
Kaitwatcharachai, C.1
Vasuvattakul, S.2
Yenchitsomanus, P.3
Thuwajit, P.4
Malasit, P.5
Chuawatana, D.6
Mingkum, S.7
Halperin, M.L.8
Wilairat, P.9
Nimmannit, S.10
-
36
-
-
0032535372
-
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A
-
(1998)
J Clin Invest
, vol.102
, pp. 2173-2179
-
-
Tanphaichitr, V.S.1
Sumboonnanonda, A.2
Ideguchi, H.3
Shayakul, C.4
Brugnara, C.5
Takao, M.6
Veerakul, G.7
Alper, S.L.8
-
37
-
-
0032704679
-
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis
-
(1999)
Kidney Int
, vol.56
, pp. 1674-1682
-
-
Vasuvattakul, S.1
Yenchitsomanus, P.T.2
Vachuanichsanong, P.3
Thuwajit, P.4
Kaitwatcharachai, C.5
Laosombat, V.6
Malasit, P.7
Wilairat, P.8
Nimmannit, S.9
-
38
-
-
0034663483
-
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells
-
(2000)
Biochem J
, vol.350
, pp. 41-51
-
-
Bruce, L.J.1
Wrong, O.2
Toye, A.M.3
Young, M.T.4
Ogle, G.5
Ismail, Z.6
Sinha, A.K.7
McMaster, P.8
Hwaihwanje, I.9
Nash, G.B.10
Hart, S.11
Lavu, E.12
Palmer, R.13
Othman, A.14
Unwin, R.J.15
Tanner, M.J.16
-
39
-
-
0032943534
-
Mutations in the gene encoding the B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
-
(1999)
Nat Genet
, vol.21
, pp. 84-90
-
-
Karet, F.E.1
Finberg, K.E.2
Nelson, R.D.3
Nayir, A.4
Mocan, H.5
Sanjad, S.A.6
Rodriguez-Soriano, J.7
Santos, F.8
Cremers, C.W.9
Di Pietro, A.10
Hoffbrand, B.I.11
Winiarski, J.12
Bakkaloglu, A.13
Ozen, S.14
Dusunsel, R.15
Goodyer, P.16
Hulton, S.A.17
Wu, D.K.18
Skvorak, A.B.19
Morton, C.C.20
Cunningham, M.J.21
Jha, V.22
Lifton, R.P.23
more..
-
40
-
-
0033358521
-
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1656-1665
-
-
Karet, F.E.1
Finberg, K.E.2
Nayir, A.3
Bakkaloglu, A.4
Ozen, S.5
Hulton, S.A.6
Sanjad, S.A.7
Al-Sabban, E.A.8
Medina, J.F.9
Lifton, R.P.10
-
54
-
-
0008546979
-
Osteopetrosis with renal tubular acidosis and cerebral calcification
-
edited by Scriver, New York, McGraw Hill
-
(2001)
th edition
, pp. 5331-5343
-
-
Sly, W.1
Shah, G.N.2
-
56
-
-
0018886806
-
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters
-
(1980)
Am J Med
, vol.69
, pp. 64-74
-
-
Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
Sly, W.S.4
Teitelbaum, S.L.5
McAlister, W.H.6
Avioli, L.V.7
|