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Volumn 66, Issue 4, 2004, Pages 1345-1355

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

Author keywords

ARPKD; Cilium; Fibrocystin; Isoforms; PKHD1 gene; Polyductin; Protein expression profile

Indexed keywords

ANTIBODY; AQUAPORIN 2; FIBROCYSTIN; MEMBRANE PROTEIN; PROTEIN; TAMM HORSFALL GLYCOPROTEIN; UNCLASSIFIED DRUG;

EID: 4644282724     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00844.x     Document Type: Article
Times cited : (130)

References (43)
  • 1
    • 0036707893 scopus 로고    scopus 로고
    • 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
  • 2
    • 0042667181 scopus 로고    scopus 로고
    • From cilia to cyst
    • WATNICK T, GERMINO G: From cilia to cyst. Nat Genet 34:355-356, 2003
    • (2003) Nat Genet , vol.34 , pp. 355-356
    • Watnick, T.1    Germino, G.2
  • 3
    • 0037316108 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 5
  • 6
    • 0038304401 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


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