-
1
-
-
77950462459
-
Genetic kidney diseases
-
Hildebrandt F: Genetic kidney diseases. Lancet 375: 1287-1295, 2010
-
(2010)
Lancet
, vol.375
, pp. 1287-1295
-
-
Hildebrandt, F.1
-
2
-
-
34548300072
-
Genetic approaches to human renal agenesis/hypoplasia and dysplasia
-
Sanna-Cherchi S, Caridi G, Weng PL, Scolari F, Perfumo F, Gharavi AG, Ghiggeri GM: Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22: 1675-1684, 2007
-
(2007)
Pediatr Nephrol
, vol.22
, pp. 1675-1684
-
-
Sanna-Cherchi, S.1
Caridi, G.2
Weng, P.L.3
Scolari, F.4
Perfumo, F.5
Gharavi, A.G.6
Ghiggeri, G.M.7
-
3
-
-
33749241883
-
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study
-
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R: Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study. J Am Soc Nephrol 17: 2864-2870, 2006
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2864-2870
-
-
Weber, S.1
Moriniere, V.2
Knüppel, T.3
Charbit, M.4
Dusek, J.5
Ghiggeri, G.M.6
Jankauskiené, A.7
Mir, S.8
Montini, G.9
Peco-Antic, A.10
Wühl, E.11
Zurowska, A.M.12
Mehls, O.13
Antignac, C.14
Schaefer, F.15
Salomon, R.16
-
4
-
-
0032818483
-
Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations
-
Eccles MR, Schimmenti LA: Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations. Clin Genet 56: 1-9, 1999
-
(1999)
Clin Genet
, vol.56
, pp. 1-9
-
-
Eccles, M.R.1
Schimmenti, L.A.2
-
5
-
-
0035166810
-
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
-
Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68: 219-224, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 219-224
-
-
Bingham, C.1
Bulman, M.P.2
Ellard, S.3
Allen, L.I.4
Lipkin, G.W.5
Hoff, W.G.6
Woolf, A.S.7
Rizzoni, G.8
Novelli, G.9
Nicholls, A.J.10
Hattersley, A.T.11
-
6
-
-
0021339670
-
Familial nature of congenital absence and severe dysgenesis of both kidneys
-
Roodhooft AM, Birnholz JC, Holmes LB: Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310: 1341-1345, 1984
-
(1984)
N Engl J Med
, vol.310
, pp. 1341-1345
-
-
Roodhooft, A.M.1
Birnholz, J.C.2
Holmes, L.B.3
-
7
-
-
0023222453
-
Dominantly inherited renal adysplasia
-
McPherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH:Dominantly inherited renal adysplasia. Am J Med Genet 26: 863-872, 1987
-
(1987)
Am J Med Genet
, vol.26
, pp. 863-872
-
-
McPherson, E.1
Carey, J.2
Kramer, A.3
Hall, J.G.4
Pauli, R.M.5
Schimke, R.N.6
Tasin, M.H.7
-
9
-
-
84855205262
-
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
-
Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F: Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int 81: 196-200, 2012
-
(2012)
Kidney Int
, vol.81
, pp. 196-200
-
-
Saisawat, P.1
Tasic, V.2
Vega-Warner, V.3
Kehinde, E.O.4
Günther, B.5
Airik, R.6
Innis, J.W.7
Hoskins, B.E.8
Hoefele, J.9
Otto, E.A.10
Hildebrandt, F.11
-
10
-
-
79959953210
-
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort
-
Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG: HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr Nephrol 26: 897-903, 2011
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 897-903
-
-
Thomas, R.1
Sanna-Cherchi, S.2
Warady, B.A.3
Furth, S.L.4
Kaskel, F.J.5
Gharavi, A.G.6
-
11
-
-
33749256665
-
Renal hypoplasia and dysplasia: Starting to put the puzzle together
-
Woolf AS: Renal hypoplasia and dysplasia: Starting to put the puzzle together. J Am Soc Nephrol 17: 2647-2649, 2006
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2647-2649
-
-
Woolf, A.S.1
-
12
-
-
0036713510
-
Human nonsynonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S: Human nonsynonymous SNPs: Server and survey. Nucleic Acids Res 30: 3894-3900, 2002
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
13
-
-
4143139955
-
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman
-
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ: A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med 351: 792-798, 2004
-
(2004)
N Engl J Med
, vol.351
, pp. 792-798
-
-
Biason-Lauber, A.1
Konrad, D.2
Navratil, F.3
Schoenle, E.J.4
-
14
-
-
34548380531
-
Canonical WNT signaling during kidney development
-
Iglesias DM, Hueber PA, Chu L, Campbell R, Patenaude AM, Dziarmaga AJ, Quinlan J, Mohamed O, Dufort D, Goodyer PR:Canonical WNT signaling during kidney development. Am J Physiol Renal Physiol 293: F494-F500, 2007
-
(2007)
Am J Physiol Renal Physiol
, vol.293
-
-
Iglesias, D.M.1
Hueber, P.A.2
Chu, L.3
Campbell, R.4
Patenaude, A.M.5
Dziarmaga, A.J.6
Quinlan, J.7
Mohamed, O.8
Dufort, D.9
Goodyer, P.R.10
-
15
-
-
0033521967
-
Female development in mammals is regulated by Wnt-4 signalling
-
Vainio S, Heikkilä M, Kispert A, Chin N, McMahon AP: Female development in mammals is regulated by Wnt-4 signalling. Nature 397: 405-409, 1999
-
(1999)
Nature
, vol.397
, pp. 405-409
-
-
Vainio, S.1
Heikkilä, M.2
Kispert, A.3
Chin, N.4
McMahon, A.P.5
-
16
-
-
0031766557
-
Wnt-4 is a mesenchymal signal for epithelial transformation of metanephric mesenchyme in the developing kidney
-
Kispert A, Vainio S, McMahon AP: Wnt-4 is a mesenchymal signal for epithelial transformation of metanephric mesenchyme in the developing kidney. Development 125: 4225-4234, 1998
-
(1998)
Development
, vol.125
, pp. 4225-4234
-
-
Kispert, A.1
Vainio, S.2
McMahon, A.P.3
-
17
-
-
4344584730
-
WNTandbeta-catenin signalling:Diseases and therapies
-
Moon RT, Kohn AD, De Ferrari GV, Kaykas A: WNTandbeta-catenin signalling:Diseases and therapies. Nat Rev Genet 5: 691-701, 2004
-
(2004)
Nat Rev Genet
, vol.5
, pp. 691-701
-
-
Moon, R.T.1
Kohn, A.D.2
De Ferrari, G.V.3
Kaykas, A.4
-
18
-
-
0030975671
-
Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma
-
Korinek V, Barker N, Morin PJ, van Wichen D, de Weger R, Kinzler KW, Vogelstein B, Clevers H: Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma. Science 275: 1784-1787, 1997
-
(1997)
Science
, vol.275
, pp. 1784-1787
-
-
Korinek, V.1
Barker, N.2
Morin, P.J.3
Van Wichen, D.4
De Weger, R.5
Kinzler, K.W.6
Vogelstein, B.7
Clevers, H.8
-
19
-
-
40649127731
-
Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane
-
Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E: Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biol Cell 100: 167-177, 2008
-
(2008)
Biol Cell
, vol.100
, pp. 167-177
-
-
Bernard, P.1
Fleming, A.2
Lacombe, A.3
Harley, V.R.4
Vilain, E.5
-
20
-
-
0028588919
-
Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4
-
Stark K, Vainio S, Vassileva G, McMahon AP: Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4. Nature 372: 679-683, 1994
-
(1994)
Nature
, vol.372
, pp. 679-683
-
-
Stark, K.1
Vainio, S.2
Vassileva, G.3
McMahon, A.P.4
-
21
-
-
0043022103
-
Nephrogenesis regulated by Wnt signaling
-
Vainio SJ: Nephrogenesis regulated by Wnt signaling. J Nephrol 16: 279-285, 2003
-
(2003)
J Nephrol
, vol.16
, pp. 279-285
-
-
Vainio, S.J.1
-
22
-
-
0033674395
-
A road to kidney tubules via the Wnt pathway
-
Vainio SJ, Uusitalo MS: A road to kidney tubules via the Wnt pathway. Pediatr Nephrol 15: 151-156, 2000
-
(2000)
Pediatr Nephrol
, vol.15
, pp. 151-156
-
-
Vainio, S.J.1
Uusitalo, M.S.2
-
23
-
-
60049099132
-
Requirement of Wnt/beta-catenin signaling in pronephric kidney development
-
Lyons JP, Miller RK, Zhou X, Weidinger G, Deroo T, Denayer T, Park JI, Ji H, Hong JY, Li A, Moon RT, Jones EA, Vleminckx K, Vize PD, McCrea PD: Requirement of Wnt/beta-catenin signaling in pronephric kidney development. Mech Dev 126: 142-159, 2009
-
(2009)
Mech Dev
, vol.126
, pp. 142-159
-
-
Lyons, J.P.1
Miller, R.K.2
Zhou, X.3
Weidinger, G.4
Deroo, T.5
Denayer, T.6
Park, J.I.7
Ji, H.8
Hong, J.Y.9
Li, A.10
Moon, R.T.11
Jones, E.A.12
Vleminckx, K.13
Vize, P.D.14
McCrea, P.D.15
-
24
-
-
0037408544
-
Expression and function of the developmental gene Wnt-4 during experimental acute renal failure in rats
-
Terada Y, Tanaka H, Okado T, Shimamura H, Inoshita S, Kuwahara M, Sasaki S: Expression and function of the developmental gene Wnt-4 during experimental acute renal failure in rats. J Am Soc Nephrol 14: 1223-1233, 2003
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 1223-1233
-
-
Terada, Y.1
Tanaka, H.2
Okado, T.3
Shimamura, H.4
Inoshita, S.5
Kuwahara, M.6
Sasaki, S.7
-
26
-
-
34447527647
-
Wnt/betacatenin signaling regulates nephron induction during mouse kidney development
-
Park JS, Valerius MT, McMahon AP:Wnt/betacatenin signaling regulates nephron induction during mouse kidney development. Development 134: 2533-2539, 2007
-
(2007)
Development
, vol.134
, pp. 2533-2539
-
-
Park, J.S.1
Valerius, M.T.2
McMahon, A.P.3
-
27
-
-
34848820568
-
Beta-catenin/TCF/Lef controls a differentiation-associated transcriptional program in renal epithelial progenitors
-
Schmidt-Ott KM, Masckauchan TN, Chen X, Hirsh BJ, Sarkar A, Yang J, Paragas N, Wallace VA, Dufort D, Pavlidis P, Jagla B, Kitajewski J, Barasch J: beta-catenin/TCF/Lef controls a differentiation-associated transcriptional program in renal epithelial progenitors. Development 134: 3177-3190, 2007
-
(2007)
Development
, vol.134
, pp. 3177-3190
-
-
Schmidt-Ott, K.M.1
Masckauchan, T.N.2
Chen, X.3
Hirsh, B.J.4
Sarkar, A.5
Yang, J.6
Paragas, N.7
Wallace, V.A.8
Dufort, D.9
Pavlidis, P.10
Jagla, B.11
Kitajewski, J.12
Barasch, J.13
-
28
-
-
53049088426
-
WNT/b-catenin signaling in nephron progenitors and their epithelial progeny
-
Schmidt-Ott KM, Barasch J: WNT/b-catenin signaling in nephron progenitors and their epithelial progeny. Kidney Int 74: 1004-1008, 2008
-
(2008)
Kidney Int
, vol.74
, pp. 1004-1008
-
-
Schmidt-Ott, K.M.1
Barasch, J.2
-
29
-
-
0036618178
-
Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells
-
Shaw G, Morse S, Ararat M, Graham FL: Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells. FASEB J 16: 869-871, 2002
-
(2002)
FASEB J
, vol.16
, pp. 869-871
-
-
Shaw, G.1
Morse, S.2
Ararat, M.3
Graham, F.L.4
-
30
-
-
33646241997
-
Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context
-
Mikels AJ, Nusse R: Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context. PLoS Biol 4: e115, 2006
-
(2006)
PLoS Biol
, vol.4
-
-
Mikels, A.J.1
Nusse, R.2
-
31
-
-
69249219272
-
Expression of stem cell markers in the human fetal kidney
-
Metsuyanim S, Harari-Steinberg O, Buzhor E, Omer D, Pode-Shakked N, Ben-Hur H, Halperin R, Schneider D, Dekel B: Expression of stem cell markers in the human fetal kidney. PLoS One 4: e6709, 2009
-
(2009)
PLoS One
, vol.4
-
-
Metsuyanim, S.1
Harari-Steinberg, O.2
Buzhor, E.3
Omer, D.4
Pode-Shakked, N.5
Ben-Hur, H.6
Halperin, R.7
Schneider, D.8
Dekel, B.9
-
32
-
-
80053146408
-
Kidney spheroids recapitulate tubular organoids leading to enhanced tubulogenic potency of human kidney-derived cells
-
Buzhor E, Harari-Steinberg O, Omer D, Metsuyanim S, Jacob-Hirsch J, Noiman T, Dotan Z, Goldstein RS, Dekel B: Kidney spheroids recapitulate tubular organoids leading to enhanced tubulogenic potency of human kidney-derived cells. Tissue Eng Part A 17: 2305-2319, 2011
-
(2011)
Tissue Eng Part A
, vol.17
, pp. 2305-2319
-
-
Buzhor, E.1
Harari-Steinberg, O.2
Omer, D.3
Metsuyanim, S.4
Jacob-Hirsch, J.5
Noiman, T.6
Dotan, Z.7
Goldstein, R.S.8
Dekel, B.9
|