-
1
-
-
0036707893
-
Genetics and pathogenesis of polycystic kidney disease
-
IGARASHI P, SOMLO S: Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 13:2384-2398, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2384-2398
-
-
Igarashi, P.1
Somlo, S.2
-
3
-
-
0037316108
-
Ciliary signaling goes down the tubes
-
CALVET JP: Ciliary signaling goes down the tubes. Nat Genet 33:113-114, 2003
-
(2003)
Nat Genet
, vol.33
, pp. 113-114
-
-
Calvet, J.P.1
-
4
-
-
0032485302
-
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
-
ZERRES K, MUCHER G, BECKER J, et al: Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76:137-144, 1998
-
(1998)
Am J Med Genet
, vol.76
, pp. 137-144
-
-
Zerres, K.1
Mucher, G.2
Becker, J.3
-
6
-
-
0038304401
-
Autosomal recessive polycystic kidney disease: The clinical experience in North America
-
GUAY-WOODFORD LM, DESMOND RA: Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics 111:1072-1080, 2003
-
(2003)
Pediatrics
, vol.111
, pp. 1072-1080
-
-
Guay-Woodford, L.M.1
Desmond, R.A.2
-
7
-
-
0028282550
-
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
-
ZERRES K, MUCHER G, BACHNER L, et al: Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7:429-432, 1994
-
(1994)
Nat Genet
, vol.7
, pp. 429-432
-
-
Zerres, K.1
Mucher, G.2
Bachner, L.3
-
8
-
-
0028906290
-
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
-
GUAY-WOODFORD LM, MUECHER G, HOPKINS SD, et al: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling. Am J Hum Genet 56:1101-1107, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1101-1107
-
-
Guay-Woodford, L.M.1
Muecher, G.2
Hopkins, S.D.3
-
9
-
-
18344366124
-
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription- factor domains and parallel beta-helix 1 repeats
-
ONUCHIC LF, FURU L, NAGASAWA Y, et al: PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 70:1305-1317, 2002
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1305-1317
-
-
Onuchic, L.F.1
Furu, L.2
Nagasawa, Y.3
-
10
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
WARD CJ, HOGAN MC, ROSSETTI S, et al: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259-269, 2002
-
(2002)
Nat Genet
, vol.30
, pp. 259-269
-
-
Ward, C.J.1
Hogan, M.C.2
Rossetti, S.3
-
11
-
-
0028500509
-
Identification of functional domains in the hepatocyte growth factor and its receptor by molecular engineering
-
BARDELLI A, PONZETTO C, COMOGLIO PM: Identification of functional domains in the hepatocyte growth factor and its receptor by molecular engineering. J Biotechnol 37:109-122, 1994
-
(1994)
J Biotechnol
, vol.37
, pp. 109-122
-
-
Bardelli, A.1
Ponzetto, C.2
Comoglio, P.M.3
-
12
-
-
20244364929
-
Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates
-
TAMAGNONE L, ARTIGIANI S, CHEN H, et al: Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Cell 99:71-80, 1999
-
(1999)
Cell
, vol.99
, pp. 71-80
-
-
Tamagnone, L.1
Artigiani, S.2
Chen, H.3
-
13
-
-
0036707877
-
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
-
NAGASAWA Y, MATTHIESEN S, ONUCHIC LF, et al: Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol 13:2246-2258, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2246-2258
-
-
Nagasawa, Y.1
Matthiesen, S.2
Onuchic, L.F.3
-
14
-
-
12244300887
-
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
-
BERGMANN C, SENDEREK J, SEDLACEK B, et al: Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 14:76-89, 2003
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 76-89
-
-
Bergmann, C.1
Senderek, J.2
Sedlacek, B.3
-
15
-
-
0042844709
-
Milder presentation of recessive polycystic kidney disease requires presence of amino Acid substitution mutations
-
FURU L, ONUCHIC LF, GHARAVI A, et al: Milder presentation of recessive polycystic kidney disease requires presence of amino Acid substitution mutations. J Am Soc Nephrol 14:2004-2014, 2003
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 2004-2014
-
-
Furu, L.1
Onuchic, L.F.2
Gharavi, A.3
-
16
-
-
10744226026
-
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
-
ROSSETTI S, TORRA R, COTO E, et al: A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int 64:391-403, 2003
-
(2003)
Kidney Int
, vol.64
, pp. 391-403
-
-
Rossetti, S.1
Torra, R.2
Coto, E.3
-
17
-
-
10744220950
-
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
-
WARD CJ, YUAN D, MASYUK TV, et al: Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet 12:2703-2710, 2003
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2703-2710
-
-
Ward, C.J.1
Yuan, D.2
Masyuk, T.V.3
-
18
-
-
0142168748
-
Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat
-
MASYUK TV, HUANG BQ, WARD CJ, et al: Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology 125:1303-1310, 2003
-
(2003)
Gastroenterology
, vol.125
, pp. 1303-1310
-
-
Masyuk, T.V.1
Huang, B.Q.2
Ward, C.J.3
-
19
-
-
0029824211
-
Developmental regulation of CFTR expression during human nephrogenesis
-
DEVUYST O, BURROW CR, SCHWIEBERT EM, et al: Developmental regulation of CFTR expression during human nephrogenesis. Am J Physiol 271:F723-F735, 1996
-
(1996)
Am J Physiol
, vol.271
-
-
Devuyst, O.1
Burrow, C.R.2
Schwiebert, E.M.3
-
20
-
-
0028942382
-
Electrogenic sodium absorption and chloride secretion by an inner medullary collecting duct cell line (mIMCD-K2)
-
KIZER N, LEWIS B, STANTON B: Electrogenic sodium absorption and chloride secretion by an inner medullary collecting duct cell line (mIMCD-K2). Am J Physiol 268:F347-F355, 1995
-
(1995)
Am J Physiol
, vol.268
-
-
Kizer, N.1
Lewis, B.2
Stanton, B.3
-
21
-
-
0036177603
-
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease
-
HOU X, MRUG M, YODER B, et al: Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J Clin Invest 109:533-540, 2002
-
(2002)
J Clin Invest
, vol.109
, pp. 533-540
-
-
Hou, X.1
Mrug, M.2
Yoder, B.3
-
22
-
-
0022571016
-
Postembedding immunogold labeling for electron microscopy using "L. R. White" resin
-
TIMMS BG: Postembedding immunogold labeling for electron microscopy using "L. R. White" resin. Am J Anat 175:267-275, 1986
-
(1986)
Am J Anat
, vol.175
, pp. 267-275
-
-
Timms, B.G.1
-
23
-
-
0029797985
-
Distribution of exoantigens and a 43-kDa glycoprotein (gp43) in the yeast and mycelial forms of Paracoccidioides brasiliensis
-
SANDOVAL MP, DEL NEGRO GMB, MENDES-GIANNINI MJS, DE BRITO T: Distribution of exoantigens and a 43-kDa glycoprotein (gp43) in the yeast and mycelial forms of Paracoccidioides brasiliensis. J Mycol Med 6:1-6, 1996
-
(1996)
J Mycol Med
, vol.6
, pp. 1-6
-
-
Sandoval, M.P.1
Del Negro, G.M.B.2
Mendes-Giannini, M.J.S.3
De Brito, T.4
-
24
-
-
0037444219
-
PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression
-
HOGAN MC, GRIFFIN MD, ROSSETTI S, et al: PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hum Mol Genet 12:685-698, 2003
-
(2003)
Hum Mol Genet
, vol.12
, pp. 685-698
-
-
Hogan, M.C.1
Griffin, M.D.2
Rossetti, S.3
-
25
-
-
0035721534
-
Biochemical characterization of bona fide polycystin-1 in vitro and in vivo
-
BOLETTA A, QIAN F, ONUCHIC LF, et al: Biochemical characterization of bona fide polycystin-1 in vitro and in vivo. Am J Kidney Dis 38:1421-1429, 2001
-
(2001)
Am J Kidney Dis
, vol.38
, pp. 1421-1429
-
-
Boletta, A.1
Qian, F.2
Onuchic, L.F.3
-
26
-
-
0001646044
-
Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules
-
OSATHANONDH V, POTTER E: Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules. Arch Pathol 77:466-473, 1964
-
(1964)
Arch Pathol
, vol.77
, pp. 466-473
-
-
Osathanondh, V.1
Potter, E.2
-
27
-
-
0018384019
-
Polycystic kidney disease of perinatal type
-
UHARI M, HERVA R: Polycystic kidney disease of perinatal type. Acta Paediatr Scand 68:443-444, 1979
-
(1979)
Acta Paediatr Scand
, vol.68
, pp. 443-444
-
-
Uhari, M.1
Herva, R.2
-
28
-
-
0037213681
-
Development of the biliary tract
-
LEMAIGRE FP: Development of the biliary tract. Mech Dev 120:81-87, 2003
-
(2003)
Mech Dev
, vol.120
, pp. 81-87
-
-
Lemaigre, F.P.1
-
29
-
-
0035159015
-
Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia
-
TAULMAN PD, HAYCRAFT CJ, BALKOVETZ DF, YODER BK: Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol Biol Cell 12:589-599, 2001
-
(2001)
Mol Biol Cell
, vol.12
, pp. 589-599
-
-
Taulman, P.D.1
Haycraft, C.J.2
Balkovetz, D.F.3
Yoder, B.K.4
-
30
-
-
0036785149
-
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia
-
YODER BK, Hou X, GUAY-WOODFORD LM: The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 13:2508-2516, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2508-2516
-
-
Yoder, B.K.1
Hou, X.2
Guay-Woodford, L.M.3
-
31
-
-
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
-
OTTO EA, SCHERMER B, OBARA T, et al: 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 34:413-420, 2003
-
(2003)
Nat Genet
, vol.34
, pp. 413-420
-
-
Otto, E.A.1
Schermer, B.2
Obara, T.3
-
32
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
-
OLBRICH H, FLIEGAUF M, HOEFELE J, et al: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 34:455-459, 2003
-
(2003)
Nat Genet
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
-
33
-
-
0035498717
-
Bending the MDCK cell primary cilium increases intracellular calcium
-
PRAETORIUS HA, SPRING KR: Bending the MDCK cell primary cilium increases intracellular calcium. J Membr Biol 184:71-79, 2001
-
(2001)
J Membr Biol
, vol.184
, pp. 71-79
-
-
Praetorius, H.A.1
Spring, K.R.2
-
34
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
NAULI SM, ALENGHAT FJ, Luo Y, et al: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33:129-137, 2003
-
(2003)
Nat Genet
, vol.33
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
-
35
-
-
0034700483
-
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents
-
HANAOKA K, QIAN F, BOLETTA A, et al: Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature 408:990-994, 2000
-
(2000)
Nature
, vol.408
, pp. 990-994
-
-
Hanaoka, K.1
Qian, F.2
Boletta, A.3
-
36
-
-
0037449709
-
Polycystin-1 activates and stabilizes the polycystin-2 channel
-
Xu GM, GONZALEZ-PERRETT S, ESSAFI M, et al: Polycystin-1 activates and stabilizes the polycystin-2 channel. J Biol Chem 278:1457-1462, 2003
-
(2003)
J Biol Chem
, vol.278
, pp. 1457-1462
-
-
Xu, G.M.1
Gonzalez-Perrett, S.2
Essafi, M.3
-
37
-
-
0033635231
-
Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells
-
BOLETTA A, QIAN F, ONUCHIC LF, et al: Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. Mol Cell 6:1267-1273, 2000
-
(2000)
Mol Cell
, vol.6
, pp. 1267-1273
-
-
Boletta, A.1
Qian, F.2
Onuchic, L.F.3
-
38
-
-
0037133954
-
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2
-
BHUNIA AK, PIONTEK K, BOLETTA A, et al: PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 109:157-168, 2002
-
(2002)
Cell
, vol.109
, pp. 157-168
-
-
Bhunia, A.K.1
Piontek, K.2
Boletta, A.3
-
39
-
-
0036841501
-
Apical EGF receptors regulate epithelial barrier to gastric acid: Endogenous TGF-alpha is an essential facilitator
-
CHEN MC, SOLOMON TE, KUI R, SOLL AH: Apical EGF receptors regulate epithelial barrier to gastric acid: Endogenous TGF-alpha is an essential facilitator. Am J Physiol Gastrointest Liver Physiol 283:G1098-G1106, 2002
-
(2002)
Am J Physiol Gastrointest Liver Physiol
, vol.283
-
-
Chen, M.C.1
Solomon, T.E.2
Kui, R.3
Soll, A.H.4
-
40
-
-
0033542752
-
A src-related kinase in the brush border membranes of gastrointestinal cells is regulated by c-met
-
SUNITHA I, SHEN R, MCKILLOP IH, et al: A src-related kinase in the brush border membranes of gastrointestinal cells is regulated by c-met. Exp Cell Res 250: 86-98, 1999
-
(1999)
Exp Cell Res
, vol.250
, pp. 86-98
-
-
Sunitha, I.1
Shen, R.2
Mckillop, I.H.3
-
41
-
-
0037370966
-
Control of epith elial transport via luminal P2 receptors
-
LEIPZIGER J: Control of epith elial transport via luminal P2 receptors. Am J Physiol Renal Physiol 284:17419-17432, 2003
-
(2003)
Am J Physiol Renal Physiol
, vol.284
, pp. 17419-17432
-
-
Leipziger, J.1
-
42
-
-
0031983653
-
Neurexins: Three genes and 1001 products
-
MISSLER M, SUDHOF TC: Neurexins: Three genes and 1001 products. Trends Genet 14:20-26, 1998
-
(1998)
Trends Genet
, vol.14
, pp. 20-26
-
-
Missler, M.1
Sudhof, T.C.2
-
43
-
-
0036270811
-
Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing
-
TABUCHI K, SUDHOF TC: Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing. Genomics 79:849-859, 2002
-
(2002)
Genomics
, vol.79
, pp. 849-859
-
-
Tabuchi, K.1
Sudhof, T.C.2
|