-
1
-
-
0035140597
-
New insights: Nephronophthisis-medullary cystic kidney disease
-
F. Hildebrandt, and H. Omram New insights: nephronophthisis-medullary cystic kidney disease Pediatr. Nephrol. 16 2 2001 168 176
-
(2001)
Pediatr. Nephrol.
, vol.16
, Issue.2
, pp. 168-176
-
-
Hildebrandt, F.1
Omram, H.2
-
2
-
-
0014211123
-
Medullary cystic disease and familial juvenile nephronophthisis
-
M.B. Strauss, and S.C. Sommers Medullary cystic disease and familial juvenile nephronophthisis N. Engl. J. Med. 277 16 1967 863 864
-
(1967)
N. Engl. J. Med.
, vol.277
, Issue.16
, pp. 863-864
-
-
Strauss, M.B.1
Sommers, S.C.2
-
3
-
-
0027362256
-
Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2. APN study group
-
F. Hildebrandt Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN study group Am. J. Hum. Genet. 53 6 1993 1256 1261
-
(1993)
Am. J. Hum. Genet.
, vol.53
, Issue.6
, pp. 1256-1261
-
-
Hildebrandt, F.1
-
4
-
-
0027402309
-
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
-
C. Antignac A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p Nat. Genet. 3 4 1993 342 345
-
(1993)
Nat. Genet.
, vol.3
, Issue.4
, pp. 342-345
-
-
Antignac, C.1
-
5
-
-
0033941201
-
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree
-
H. Omran Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree Am. J. Hum. Genet. 66 1 2000 118 127
-
(2000)
Am. J. Hum. Genet.
, vol.66
, Issue.1
, pp. 118-127
-
-
Omran, H.1
-
6
-
-
18344385486
-
Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36
-
M.J. Schuermann Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36 Am. J. Hum. Genet. 70 5 2002 1240 1246
-
(2002)
Am. J. Hum. Genet.
, vol.70
, Issue.5
, pp. 1240-1246
-
-
Schuermann, M.J.1
-
7
-
-
0041592700
-
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
-
E.A. Otto Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination Nat. Genet. 34 4 2003 413 420
-
(2003)
Nat. Genet.
, vol.34
, Issue.4
, pp. 413-420
-
-
Otto, E.A.1
-
8
-
-
0027158027
-
Reversal of left-right asymmetry: A situs inversus mutation
-
T. Yokoyama Reversal of left-right asymmetry: a situs inversus mutation Science 260 5108 1993 679 682
-
(1993)
Science
, vol.260
, Issue.5108
, pp. 679-682
-
-
Yokoyama, T.1
-
9
-
-
17344366038
-
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse
-
D. Morgan Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse Nat. Genet. 20 2 1998 149 156
-
(1998)
Nat. Genet.
, vol.20
, Issue.2
, pp. 149-156
-
-
Morgan, D.1
-
10
-
-
0032769676
-
Anomalous development of the hepatobiliary system in the Inv mouse
-
M.V. Mazziotti Anomalous development of the hepatobiliary system in the Inv mouse Hepatology 30 2 1999 372 378
-
(1999)
Hepatology
, vol.30
, Issue.2
, pp. 372-378
-
-
Mazziotti, M.V.1
-
11
-
-
0032504963
-
Cloning of inv, a gene that controls left/right asymmetry and kidney development
-
T. Mochizuki Cloning of inv, a gene that controls left/right asymmetry and kidney development Nature 395 6698 1998 177 181
-
(1998)
Nature
, vol.395
, Issue.6698
, pp. 177-181
-
-
Mochizuki, T.1
-
12
-
-
0036488027
-
Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia
-
P. Schön Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia Hum. Genet. 110 2 2002 157 165
-
(2002)
Hum. Genet.
, vol.110
, Issue.2
, pp. 157-165
-
-
Schön, P.1
-
13
-
-
0036732917
-
Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells
-
J. Nürnberger, R.L. Bacallao, and C.L. Phillips Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells Mol. Biol. Cell 13 9 2002 3096 3106
-
(2002)
Mol. Biol. Cell
, vol.13
, Issue.9
, pp. 3096-3106
-
-
Nürnberger, J.1
Bacallao, R.L.2
Phillips, C.L.3
-
14
-
-
0029557842
-
Protein import into the nucleus: An integrated view
-
G.R. Hicks, and N.V. Raikhel Protein import into the nucleus: an integrated view Annu. Rev. Cell Dev. Biol. 11 1995 155 188
-
(1995)
Annu. Rev. Cell Dev. Biol.
, vol.11
, pp. 155-188
-
-
Hicks, G.R.1
Raikhel, N.V.2
-
15
-
-
0026078249
-
Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: Identification of a class of bipartite nuclear targeting sequence
-
J. Robbins Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: identification of a class of bipartite nuclear targeting sequence Cell 64 3 1991 615 623
-
(1991)
Cell
, vol.64
, Issue.3
, pp. 615-623
-
-
Robbins, J.1
-
16
-
-
0036556271
-
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin
-
D. Morgan The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin Hum. Genet. 110 4 2002 377 384
-
(2002)
Hum. Genet.
, vol.110
, Issue.4
, pp. 377-384
-
-
Morgan, D.1
-
17
-
-
0035172027
-
Calmodulin binds to inv protein: Implication for the regulation of inv function
-
Y. Yasuhiko Calmodulin binds to inv protein: implication for the regulation of inv function Dev. Growth Differ. 43 6 2001 671 681
-
(2001)
Dev. Growth Differ.
, vol.43
, Issue.6
, pp. 671-681
-
-
Yasuhiko, Y.1
-
18
-
-
0037115494
-
Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
-
D. Morgan Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle Hum. Mol. Genet. 11 26 2002 3345 3350
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.26
, pp. 3345-3350
-
-
Morgan, D.1
-
19
-
-
0005634007
-
Apical membrane aminopeptidase appears at site of cell-cell contact in cultured kidney epithelial cells
-
D. Louvard Apical membrane aminopeptidase appears at site of cell-cell contact in cultured kidney epithelial cells Proc. Natl. Acad. Sci. USA 77 7 1980 4132 4136
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, Issue.7
, pp. 4132-4136
-
-
Louvard, D.1
-
20
-
-
0023139296
-
Morphogenetic clonal growth of kidney epithelial cell line MDCK
-
J.A. McAteer, A.P. Evan, and K.D. Gardner Morphogenetic clonal growth of kidney epithelial cell line MDCK Anat. Rec. 217 3 1987 229 239
-
(1987)
Anat. Rec.
, vol.217
, Issue.3
, pp. 229-239
-
-
McAteer, J.A.1
Evan, A.P.2
Gardner, K.D.3
-
21
-
-
0037959910
-
The left-right determinant Inversin is a component of node monocilia and other 9 + 0 cilia
-
D. Watanabe The left-right determinant Inversin is a component of node monocilia and other 9 + 0 cilia Development 130 9 2003 1725 1734
-
(2003)
Development
, vol.130
, Issue.9
, pp. 1725-1734
-
-
Watanabe, D.1
-
22
-
-
0342723790
-
Frequent alternative splicing of human genes
-
A.A. Mironov, J.W. Fickett, and M.S. Gelfand Frequent alternative splicing of human genes Genome Res. 9 12 1999 1288 1293
-
(1999)
Genome Res.
, vol.9
, Issue.12
, pp. 1288-1293
-
-
Mironov, A.A.1
Fickett, J.W.2
Gelfand, M.S.3
-
23
-
-
0034029236
-
ISIS, the intron information system, reveals the high frequency of alternative splicing in the human genome
-
L. Croft ISIS, the intron information system, reveals the high frequency of alternative splicing in the human genome Nat. Genet. 24 4 2000 340 341
-
(2000)
Nat. Genet.
, vol.24
, Issue.4
, pp. 340-341
-
-
Croft, L.1
-
24
-
-
0034716987
-
EST comparison indicates 38% of human mRNAs contain possible alternative splice forms
-
D. Brett EST comparison indicates 38% of human mRNAs contain possible alternative splice forms FEBS Lett. 474 1 2000 83 86
-
(2000)
FEBS Lett.
, vol.474
, Issue.1
, pp. 83-86
-
-
Brett, D.1
-
25
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
D.L. Black Mechanisms of alternative pre-messenger RNA splicing Annu. Rev. Biochem. 72 2003 291 336
-
(2003)
Annu. Rev. Biochem.
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
26
-
-
1342302885
-
A perspective on inversin
-
L. Eley A perspective on inversin Cell Biol. Int. 28 2 2004 119 124
-
(2004)
Cell Biol. Int.
, vol.28
, Issue.2
, pp. 119-124
-
-
Eley, L.1
-
27
-
-
0032435862
-
Alternative splicing of pre-mRNA: Developmental consequences and mechanisms of regulation
-
A.J. Lopez Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation Annu. Rev. Genet. 32 1998 279 305
-
(1998)
Annu. Rev. Genet.
, vol.32
, pp. 279-305
-
-
Lopez, A.J.1
-
28
-
-
0242582130
-
Murine models of polycystic kidney disease: Molecular and therapeutic insights
-
L.M. Guay-Woodford Murine models of polycystic kidney disease: molecular and therapeutic insights Am. J. Physiol. Renal Physiol. 285 6 2003 F1034 F1049
-
(2003)
Am. J. Physiol. Renal Physiol.
, vol.285
, Issue.6
-
-
Guay-Woodford, L.M.1
-
29
-
-
0037371640
-
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells
-
L. Romio OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells J. Am. Soc. Nephrol. 14 3 2003 680 689
-
(2003)
J. Am. Soc. Nephrol.
, vol.14
, Issue.3
, pp. 680-689
-
-
Romio, L.1
-
30
-
-
0345451005
-
Xenopus Pax-2 displays multiple splice forms during embryogenesis and pronephric kidney development
-
N. Heller, and A.W. Brandli Xenopus Pax-2 displays multiple splice forms during embryogenesis and pronephric kidney development Mech. Dev. 69 1-2 1997 83 104
-
(1997)
Mech. Dev.
, vol.69
, Issue.12
, pp. 83-104
-
-
Heller, N.1
Brandli, A.W.2
-
31
-
-
0030995854
-
The expression of RET and its multiple splice forms in developing human kidney
-
S.M. Ivanchuk The expression of RET and its multiple splice forms in developing human kidney Oncogene 14 15 1997 1811 1818
-
(1997)
Oncogene
, vol.14
, Issue.15
, pp. 1811-1818
-
-
Ivanchuk, S.M.1
-
32
-
-
0345306602
-
Large scale study of protein domain distribution in the context of alternative splicing
-
S. Liu, and R.B. Altman Large scale study of protein domain distribution in the context of alternative splicing Nucleic Acids Res. 31 16 2003 4828 4835
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.16
, pp. 4828-4835
-
-
Liu, S.1
Altman, R.B.2
-
34
-
-
0027333330
-
Hundreds of ankyrin-like repeats in functionally diverse proteins: Mobile modules that cross phyla horizontally?
-
P. Bork Hundreds of ankyrin-like repeats in functionally diverse proteins: mobile modules that cross phyla horizontally? Proteins 17 4 1993 363 374
-
(1993)
Proteins
, vol.17
, Issue.4
, pp. 363-374
-
-
Bork, P.1
-
35
-
-
84970058643
-
Signal transduction versus buffering activity in Ca(2+)-binding proteins
-
N.J. Skelton Signal transduction versus buffering activity in Ca(2+)-binding proteins Nat. Struct. Biol. 1 4 1994 239 245
-
(1994)
Nat. Struct. Biol.
, vol.1
, Issue.4
, pp. 239-245
-
-
Skelton, N.J.1
-
36
-
-
0034256090
-
Calmodulin: A prototypical calcium sensor
-
D. Chin, and A.R. Means Calmodulin: a prototypical calcium sensor Trends Cell Biol. 10 8 2000 322 328
-
(2000)
Trends Cell Biol.
, vol.10
, Issue.8
, pp. 322-328
-
-
Chin, D.1
Means, A.R.2
-
37
-
-
0025095857
-
The diagnosis and prognosis of autosomal dominant polycystic kidney disease
-
P.S. Parfrey The diagnosis and prognosis of autosomal dominant polycystic kidney disease N. Engl. J. Med. 323 16 1990 1085 1090
-
(1990)
N. Engl. J. Med.
, vol.323
, Issue.16
, pp. 1085-1090
-
-
Parfrey, P.S.1
-
38
-
-
0026478608
-
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
-
D. Ravine Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease Lancet 340 8831 1992 1330 1333
-
(1992)
Lancet
, vol.340
, Issue.8831
, pp. 1330-1333
-
-
Ravine, D.1
-
39
-
-
7344263460
-
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene
-
Y. Pei A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene Kidney Int. 53 5 1998 1127 1132
-
(1998)
Kidney Int.
, vol.53
, Issue.5
, pp. 1127-1132
-
-
Pei, Y.1
-
40
-
-
0037018850
-
The ion channel polycystin-2 is required for left-right axis determination in mice
-
P. Pennekamp The ion channel polycystin-2 is required for left-right axis determination in mice Curr. Biol. 12 11 2002 938 943
-
(2002)
Curr. Biol.
, vol.12
, Issue.11
, pp. 938-943
-
-
Pennekamp, P.1
-
41
-
-
0036122434
-
Polycystin-2 is an intracellular calcium release channel
-
P. Koulen Polycystin-2 is an intracellular calcium release channel Nat. Cell Biol. 4 3 2002 191 197
-
(2002)
Nat. Cell Biol.
, vol.4
, Issue.3
, pp. 191-197
-
-
Koulen, P.1
-
42
-
-
0034700483
-
Co-assembly of polycystin-1 and -2 produces unique cation permeable currents
-
K. Hanaoka Co-assembly of polycystin-1 and -2 produces unique cation permeable currents Nature 408 6815 2000 990 994
-
(2000)
Nature
, vol.408
, Issue.6815
, pp. 990-994
-
-
Hanaoka, K.1
-
43
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
S.M. Nauli Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells Nat. Genet. 33 2 2003 129 137
-
(2003)
Nat. Genet.
, vol.33
, Issue.2
, pp. 129-137
-
-
Nauli, S.M.1
-
44
-
-
0033567387
-
Whose end is destruction: Cell division and the anaphase-promoting complex
-
W. Zachariae, and K. Nasmyth Whose end is destruction: cell division and the anaphase-promoting complex Genes Dev. 13 16 1999 2039 2058
-
(1999)
Genes Dev.
, vol.13
, Issue.16
, pp. 2039-2058
-
-
Zachariae, W.1
Nasmyth, K.2
-
45
-
-
0026089183
-
Cyclin is degraded by the ubiquitin pathway
-
M. Glotzer, A.W. Murray, and M.W. Kirschner Cyclin is degraded by the ubiquitin pathway Nature 349 6305 1991 132 138
-
(1991)
Nature
, vol.349
, Issue.6305
, pp. 132-138
-
-
Glotzer, M.1
Murray, A.W.2
Kirschner, M.W.3
-
46
-
-
0036842902
-
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
-
E. Otto A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution Am. J. Hum. Genet. 71 5 2002 1161 1167
-
(2002)
Am. J. Hum. Genet.
, vol.71
, Issue.5
, pp. 1161-1167
-
-
Otto, E.1
|