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Index > Protein center > PKD1(Gene name) > Human
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  • PKD1 (Gene name),
  • Polycystin-1 (Protein name ),  PKD1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    PKD1;
    Protein name:
    Polycystin-1;
    Alternative:
    Autosomal dominant polycystic kidney disease 1 protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with PKD2. Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney.
    Function:
    May be an ion-channel regulator. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Involved in adhesive protein-protein and protein-carbohydrate interactions.
    Subcellular Location:
    Membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    4303
    Sequence:
    50:
    MPPAAPARLA | LALGLGLWLG | ALAGGPGRGC | GPCEPPCLCG | PAPGAACRVN | 
    100:
    CSGRGLRTLG | PALRIPADAT | ALDVSHNLLR | ALDVGLLANL | SALAELDISN | 
    150:
    NKISTLEEGI | FANLFNLSEI | NLSGNPFECD | CGLAWLPRWA | EEQQVRVVQP | 
    200:
    EAATCAGPGS | LAGQPLLGIP | LLDSGCGEEY | VACLPDNSSG | TVAAVSFSAA | 
    250:
    HEGLLQPEAC | SAFCFSTGQG | LAALSEQGWC | LCGAAQPSSA | SFACLSLCSG | 
    300:
    PPPPPAPTCR | GPTLLQHVFP | ASPGATLVGP | HGPLASGQLA | AFHIAAPLPV | 
    350:
    TATRWDFGDG | SAEVDAAGPA | ASHRYVLPGR | YHVTAVLALG | AGSALLGTDV | 
    400:
    QVEAAPAALE | LVCPSSVQSD | ESLDLSIQNR | GGSGLEAAYS | IVALGEEPAR | 
    450:
    AVHPLCPSDT | EIFPGNGHCY | RLVVEKAAWL | QAQEQCQAWA | GAALAMVDSP | 
    500:
    AVQRFLVSRV | TRSLDVWIGF | STVQGVEVGP | APQGEAFSLE | SCQNWLPGEP | 
    550:
    HPATAEHCVR | LGPTGWCNTD | LCSAPHSYVC | ELQPGGPVQD | AENLLVGAPS | 
    600:
    GDLQGPLTPL | AQQDGLSAPH | EPVEVMVFPG | LRLSREAFLT | TAEFGTQELR | 
    650:
    RPAQLRLQVY | RLLSTAGTPE | NGSEPESRSP | DNRTQLAPAC | MPGGRWCPGA | 
    700:
    NICLPLDASC | HPQACANGCT | SGPGLPGAPY | ALWREFLFSV | PAGPPAQYSV | 
    750:
    TLHGQDVLML | PGDLVGLQHD | AGPGALLHCS | PAPGHPGPRA | PYLSANASSW | 
    800:
    LPHLPAQLEG | TWACPACALR | LLAATEQLTV | LLGLRPNPGL | RLPGRYEVRA | 
    850:
    EVGNGVSRHN | LSCSFDVVSP | VAGLRVIYPA | PRDGRLYVPT | NGSALVLQVD | 
    900:
    SGANATATAR | WPGGSVSARF | ENVCPALVAT | FVPGCPWETN | DTLFSVVALP | 
    950:
    WLSEGEHVVD | VVVENSASRA | NLSLRVTAEE | PICGLRATPS | PEARVLQGVL | 
    1000:
    VRYSPVVEAG | SDMVFRWTIN | DKQSLTFQNV | VFNVIYQSAA | VFKLSLTASN | 
    1050:
    HVSNVTVNYN | VTVERMNRMQ | GLQVSTVPAV | LSPNATLALT | AGVLVDSAVE | 
    1100:
    VAFLWTFGDG | EQALHQFQPP | YNESFPVPDP | SVAQVLVEHN | VMHTYAAPGE | 
    1150:
    YLLTVLASNA | FENLTQQVPV | SVRASLPSVA | VGVSDGVLVA | GRPVTFYPHP | 
    1200:
    LPSPGGVLYT | WDFGDGSPVL | TQSQPAANHT | YASRGTYHVR | LEVNNTVSGA | 
    1250:
    AAQADVRVFE | ELRGLSVDMS | LAVEQGAPVV | VSAAVQTGDN | ITWTFDMGDG | 
    1300:
    TVLSGPEATV | EHVYLRAQNC | TVTVGAASPA | GHLARSLHVL | VFVLEVLRVE | 
    1350:
    PAACIPTQPD | ARLTAYVTGN | PAHYLFDWTF | GDGSSNTTVR | GCPTVTHNFT | 
    1400:
    RSGTFPLALV | LSSRVNRAHY | FTSICVEPEV | GNVTLQPERQ | FVQLGDEAWL | 
    1450:
    VACAWPPFPY | RYTWDFGTEE | AAPTRARGPE | VTFIYRDPGS | YLVTVTASNN | 
    1500:
    ISAANDSALV | EVQEPVLVTS | IKVNGSLGLE | LQQPYLFSAV | GRGRPASYLW | 
    1550:
    DLGDGGWLEG | PEVTHAYNST | GDFTVRVAGW | NEVSRSEAWL | NVTVKRRVRG | 
    1600:
    LVVNASRTVV | PLNGSVSFST | SLEAGSDVRY | SWVLCDRCTP | IPGGPTISYT | 
    1650:
    FRSVGTFNII | VTAENEVGSA | QDSIFVYVLQ | LIEGLQVVGG | GRYFPTNHTV | 
    1700:
    QLQAVVRDGT | NVSYSWTAWR | DRGPALAGSG | KGFSLTVLEA | GTYHVQLRAT | 
    1750:
    NMLGSAWADC | TMDFVEPVGW | LMVAASPNPA | AVNTSVTLSA | ELAGGSGVVY | 
    1800:
    TWSLEEGLSW | ETSEPFTTHS | FPTPGLHLVT | MTAGNPLGSA | NATVEVDVQV | 
    1850:
    PVSGLSIRAS | EPGGSFVAAG | SSVPFWGQLA | TGTNVSWCWA | VPGGSSKRGP | 
    1900:
    HVTMVFPDAG | TFSIRLNASN | AVSWVSATYN | LTAEEPIVGL | VLWASSKVVA | 
    1950:
    PGQLVHFQIL | LAAGSAVTFR | LQVGGANPEV | LPGPRFSHSF | PRVGDHVVSV | 
    2000:
    RGKNHVSWAQ | AQVRIVVLEA | VSGLQVPNCC | EPGIATGTER | NFTARVQRGS | 
    2050:
    RVAYAWYFSL | QKVQGDSLVI | LSGRDVTYTP | VAAGLLEIQV | RAFNALGSEN | 
    2100:
    RTLVLEVQDA | VQYVALQSGP | CFTNRSAQFE | AATSPSPRRV | AYHWDFGDGS | 
    2150:
    PGQDTDEPRA | EHSYLRPGDY | RVQVNASNLV | SFFVAQATVT | VQVLACREPE | 
    2200:
    VDVVLPLQVL | MRRSQRNYLE | AHVDLRDCVT | YQTEYRWEVY | RTASCQRPGR | 
    2250:
    PARVALPGVD | VSRPRLVLPR | LALPVGHYCF | VFVVSFGDTP | LTQSIQANVT | 
    2300:
    VAPERLVPII | EGGSYRVWSD | TRDLVLDGSE | SYDPNLEDGD | QTPLSFHWAC | 
    2350:
    VASTQREAGG | CALNFGPRGS | STVTIPRERL | AAGVEYTFSL | TVWKAGRKEE | 
    2400:
    ATNQTVLIRS | GRVPIVSLEC | VSCKAQAVYE | VSRSSYVYLE | GRCLNCSSGS | 
    2450:
    KRGRWAARTF | SNKTLVLDET | TTSTGSAGMR | LVLRRGVLRD | GEGYTFTLTV | 
    2500:
    LGRSGEEEGC | ASIRLSPNRP | PLGGSCRLFP | LGAVHALTTK | VHFECTGWHD | 
    2550:
    AEDAGAPLVY | ALLLRRCRQG | HCEEFCVYKG | SLSSYGAVLP | PGFRPHFEVG | 
    2600:
    LAVVVQDQLG | AAVVALNRSL | AITLPEPNGS | ATGLTVWLHG | LTASVLPGLL | 
    2650:
    RQADPQHVIE | YSLALVTVLN | EYERALDVAA | EPKHERQHRA | QIRKNITETL | 
    2700:
    VSLRVHTVDD | IQQIAAALAQ | CMGPSRELVC | RSCLKQTLHK | LEAMMLILQA | 
    2750:
    ETTAGTVTPT | AIGDSILNIT | GDLIHLASSD | VRAPQPSELG | AESPSRMVAS | 
    2800:
    QAYNLTSALM | RILMRSRVLN | EEPLTLAGEE | IVAQGKRSDP | RSLLCYGGAP | 
    2850:
    GPGCHFSIPE | AFSGALANLS | DVVQLIFLVD | SNPFPFGYIS | NYTVSTKVAS | 
    2900:
    MAFQTQAGAQ | IPIERLASER | AITVKVPNNS | DWAARGHRSS | ANSANSVVVQ | 
    2950:
    PQASVGAVVT | LDSSNPAAGL | HLQLNYTLLD | GHYLSEEPEP | YLAVYLHSEP | 
    3000:
    RPNEHNCSAS | RRIRPESLQG | ADHRPYTFFI | SPGSRDPAGS | YHLNLSSHFR | 
    3050:
    WSALQVSVGL | YTSLCQYFSE | EDMVWRTEGL | LPLEETSPRQ | AVCLTRHLTA | 
    3100:
    FGASLFVPPS | HVRFVFPEPT | ADVNYIVMLT | CAVCLVTYMV | MAAILHKLDQ | 
    3150:
    LDASRGRAIP | FCGQRGRFKY | EILVKTGWGR | GSGTTAHVGI | MLYGVDSRSG | 
    3200:
    HRHLDGDRAF | HRNSLDIFRI | ATPHSLGSVW | KIRVWHDNKG | LSPAWFLQHV | 
    3250:
    IVRDLQTARS | AFFLVNDWLS | VETEANGGLV | EKEVLAASDA | ALLRFRRLLV | 
    3300:
    AELQRGFFDK | HIWLSIWDRP | PRSRFTRIQR | ATCCVLLICL | FLGANAVWYG | 
    3350:
    AVGDSAYSTG | HVSRLSPLSV | DTVAVGLVSS | VVVYPVYLAI | LFLFRMSRSK | 
    3400:
    VAGSPSPTPA | GQQVLDIDSC | LDSSVLDSSF | LTFSGLHAEQ | AFVGQMKSDL | 
    3450:
    FLDDSKSLVC | WPSGEGTLSW | PDLLSDPSIV | GSNLRQLARG | QAGHGLGPEE | 
    3500:
    DGFSLASPYS | PAKSFSASDE | DLIQQVLAEG | VSSPAPTQDT | HMETDLLSSL | 
    3550:
    SSTPGEKTET | LALQRLGELG | PPSPGLNWEQ | PQAARLSRTG | LVEGLRKRLL | 
    3600:
    PAWCASLAHG | LSLLLVAVAV | AVSGWVGASF | PPGVSVAWLL | SSSASFLASF | 
    3650:
    LGWEPLKVLL | EALYFSLVAK | RLHPDEDDTL | VESPAVTPVS | ARVPRVRPPH | 
    3700:
    GFALFLAKEE | ARKVKRLHGM | LRSLLVYMLF | LLVTLLASYG | DASCHGHAYR | 
    3750:
    LQSAIKQELH | SRAFLAITRS | EELWPWMAHV | LLPYVHGNQS | SPELGPPRLR | 
    3800:
    QVRLQEALYP | DPPGPRVHTC | SAAGGFSTSD | YDVGWESPHN | GSGTWAYSAP | 
    3850:
    DLLGAWSWGS | CAVYDSGGYV | QELGLSLEES | RDRLRFLQLH | NWLDNRSRAV | 
    3900:
    FLELTRYSPA | VGLHAAVTLR | LEFPAAGRAL | AALSVRPFAL | RRLSAGLSLP | 
    3950:
    LLTSVCLLLF | AVHFAVAEAR | TWHREGRWRV | LRLGAWARWL | LVALTAATAL | 
    4000:
    VRLAQLGAAD | RQWTRFVRGR | PRRFTSFDQV | AQLSSAARGL | AASLLFLLLV | 
    4050:
    KAAQQLRFVR | QWSVFGKTLC | RALPELLGVT | LGLVVLGVAY | AQLAILLVSS | 
    4100:
    CVDSLWSVAQ | ALLVLCPGTG | LSTLCPAESW | HLSPLLCVGL | WALRLWGALR | 
    4150:
    LGAVILRWRY | HALRGELYRP | AWEPQDYEMV | ELFLRRLRLW | MGLSKVKEFR | 
    4200:
    HKVRFEGMEP | LPSRSSRGSK | VSPDVPPPSA | GSDASHPSTS | SSQLDGLSVS | 
    4250:
    LGRLGTRCEP | EPSRLQAVFE | ALLTQFDRLN | QATEDVYQLE | QQLHSLQGRR | 
    4300:
    SSRAPAGSSR | GPSPGLRPAL | PSRLARASRG | VDLATGPSRT | PLRAKNKVHP | 
    4303:
    SST
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    SMR:
    UniGene:
    KEGG:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Polycystin-1
    Cat.:
    E9813h
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    ELISA Kit for Human Polycystin-1
    Cat.:
    E9813m
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Polycystin-1
    Cat.:
    U9813h
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Polycystin-1
    Cat.:
    U9813m
    Price:
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Polycystin-1
    Cat.:
    P9813Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Polycystin-1
    Cat.:
    P9813Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Polycystin-1
    Monoclonal Antibody for Human Polycystin-1
    Protein for Human Polycystin-1
    Protein for Human Polycystin-1

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT THR-1092
    2. 2.
      "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains."
      Hughes J. , Ward C.J. , Peral B. , Aspinwall R. , Clark K. , San Millan J.L. , Gamble V. , Harris P.C.
      Nat. Genet.10:151-160(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2 AND 3);VARIANT GLN-739
    3. 3.
      "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J. , Han C. , Gordon L.A. , Terry A. , Prabhakar S. , She X. , Xie G. , Hellsten U. , Chan Y.M. , Altherr M. , Couronne O. , Aerts A. , Bajorek E. , Black S. , Blumer H. , Branscomb E. , Brown N.C. , Bruno W.J. , more...
      Nature432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 2769-4303
    5. 6.
      "Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations."
      Qian F. , Boletta A. , Bhunia A.K. , Xu H. , Liu L. , Ahrabi A.K. , Watnick T.J. , Zhou F. , Germino G.G.
      Proc. Natl. Acad. Sci. U.S.A.99:16981-16986(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN RENAL TUBULOGENESIS;CLEAVAGE AT GPS DOMAIN;CHARACTERIZATION OF VARIANTS PKD1 LYS-2771; PRO-2921; PRO-2993 AND ARG-3016;CHARACTERIZATION OF VARIANT GLN-2791
    6. 7.
      "Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene."
      Wei W. , Hackmann K. , Xu H. , Germino G. , Qian F.
      J. Biol. Chem.282:21729-21737(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: AUTOPROTEOLYTIC CLEAVAGE;DETERMINATION OF AUTOPROTEOLYTIC CLEAVAGE SITE;MUTAGENESIS OF THR-3049
    7. 8.
      "Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency."
      Li X. , Burrow C.R. , Polgar K. , Hyink D.P. , Gusella G.L. , Wilson P.D.
      Biochim. Biophys. Acta1782:1-9(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-4166;INTERACTION WITH PRKX
    8. 9.
      "Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site."
      Chapin H.C. , Rajendran V. , Caplan M.J.
      Mol. Biol. Cell21:4338-4348(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    9. 10.
      "Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals."
      Wodarczyk C. , Distefano G. , Rowe I. , Gaetani M. , Bricoli B. , Muorah M. , Spitaleri A. , Mannella V. , Ricchiuto P. , Pema M. , Castelli M. , Casanova A.E. , Mollica L. , Banzi M. , Boca M. , Antignac C. , Saunier S. , Musco G. , more...
      PLoS ONE5:E12719-E12719(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH NPHP1
    10. 11.
      "The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease."
      Bycroft M. , Bateman A. , Clarke J. , Hamill S.J. , Sandford R. , Thomas R.L. , Chothia C.
      EMBO J.18:297-305(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 275-354
    11. 12.
      "Polycystin channels and kidney disease."
      Stayner C. , Zhou J.
      Trends Pharmacol. Sci.22:543-546(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    12. 13.
      "Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations."
      Peral B. , San Millan J.L. , Ong A.C.M. , Gamble V. , Ward C.J. , Strong C. , Harris P.C.
      Am. J. Hum. Genet.58:86-96(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 3748-ARG--VAL-3752 DEL;VARIANT ASP-3632
    13. 14.
      "Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach."
      Peral B. , Gamble V. , Strong C. , Ong A.C.M. , Sloane-Stanley J. , Zerres K. , Winearls C.G. , Harris P.C.
      Am. J. Hum. Genet.60:1399-1410(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 PRO-2993; ARG-3016 AND VAL-3511;VARIANTS MET-3510 AND PHE-4190
    14. 15.
      "New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles."
      Constantinides R. , Xenophontos S.L. , Neophytou P. , Nomura S. , Pierides A. , Constantinou-Deltas C.D.
      Hum. Genet.99:644-647(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALA-4058
    15. 16.
      "An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection."
      Watnick T.J. , Piontek K.B. , Cordal T.M. , Weber H. , Gandolph M.A. , Qian F. , Lens X.M. , Neumann H.P.H. , Germino G.G.
      Hum. Mol. Genet.6:1473-1481(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 VAL-2763; THR-2826 AND LEU-3008;VARIANTS THR-2760; PRO-2761; THR-2764; GLN-2791 AND LEU-3066
    16. 17.
      "Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease."
      Turco A.E. , Rossetti S. , Bresin E. , Englisch S. , Corra S. , Pignatti P.F.
      Hum. Mutat.10:164-167(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 THR-3678
    17. 18.
      "Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene."
      Daniells C. , Maheshwar M.M. , Lazarou L. , Davies F. , Coles G. , Ravine D.
      Hum. Genet.102:216-220(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 ASP-4032;VARIANT VAL-4045
    18. 19.
      "Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1."
      Koptides M. , Constantinides R. , Kyriakides G. , Hadjigavriel M. , Patsalis P.C. , Pierides A. , Deltas C.C.
      Hum. Genet.103:709-717(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 MET-3375
    19. 20.
      "Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR."
      Thomas R.L. , McConnell R. , Whittacker J. , Kirkpatrick P. , Bradley J. , Sandford R.
      Am. J. Hum. Genet.65:39-49(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 LEU-324 AND SER-845;VARIANTS ARG-1399 AND LEU-1786
    20. 21.
      "Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease."
      Watnick T. , Phakdeekitcharoen B. , Johnson A. , Gandolph M.A. , Wang M. , Briefel G. , Klinger K.W. , Kimberling W. , Gabow P. , Germino G.G.
      Am. J. Hum. Genet.65:1561-1571(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 PRO-2392 AND PHE-2423;VARIANTS ARG-1399; GLN-2548 AND ARG-2638
    21. 22.
      "DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients."
      Perrichot R.A. , Mercier B. , Simon P.M. , Whebe B. , Cledes J. , Ferec C.
      Hum. Genet.105:231-239(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 LEU-LEU-PHE-3996 INS; GLY-4136 AND CYS-4154;VARIANTS
    22. 23.
      "Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene."
      Afzal A.R. , Hand M. , Ternes-Pereira E. , Saggar-Malik A. , Taylor R. , Jeffery S.
      Hum. Genet.105:648-653(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 3748-ARG--VAL-3752 DEL AND LEU-4132 DEL;VARIANT VAL-4045
    23. 24.
      "Mutational analysis within the 3' region of the PKD1 gene."
      Badenas C. , Torra R. , San Millan J.L. , Lucero L. , Mila M. , Estivill X. , Darnell A.
      Kidney Int.55:1225-1233(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 PRO-4225 AND TRP-4276
    24. 25.
      "Novel mutations in the duplicated region of PKD1 gene."
      Perrichot R. , Mercier B. , Quere I. , Carre A. , Simon P. , Whebe B. , Cledes J. , Ferec C.
      Eur. J. Hum. Genet.8:353-359(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 MET-2250; TRP-2329 AND CYS-2379;VARIANTS LEU-3066; VAL-3139 AND LEU-3193
    25. 26.
      "Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion."
      Afzal A.R. , Florencio R.N. , Taylor R. , Patton M.A. , Saggar-Malik A. , Jeffery S.
      Genet. Test.4:365-370(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 HIS-3247 AND MET-3382
    26. 27.
      "Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families."
      Koptides M. , Mean R. , Demetriou K. , Constantinides R. , Pierides A. , Harris P.C. , Deltas C.C.
      Hum. Mutat.16:176-176(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 PRO-2921 AND MET-3375;VARIANT LEU-3066
    27. 28.
      "Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes."
      Aguiari G. , Savelli S. , Garbo M. , Bozza A. , Augello G. , Penolazzi L. , De Paoli Vitali E. , La Torre C. , Cappelli G. , Piva R. , del Senno L.
      Hum. Mutat.16:444-445(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 GLN-3719 AND PRO-3852;VARIANT VAL-4045
    28. 29.
      "Thirteen novel mutations of the replicated region of PKD1 in an Asian population."
      Phakdeekitcharoen B. , Watnick T.J. , Ahn C. , Whang D.-Y. , Burkhart B. , Germino G.G.
      Kidney Int.58:1400-1412(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 SER-1166; GLU-1956; CYS-2408 AND GLY-2442--2443 INS;VARIANTS HIS-1995 AND ASN-2604
    29. 30.
      "Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease."
      Kim U.K. , Jin D.K. , Ahn C. , Shin J.H. , Lee K.B. , Kim S.H. , Chae J.J. , Hwang D.Y. , Lee J.G. , Namkoong Y. , Lee C.C.
      Mutat. Res.432:39-45(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 TRP-3753 AND ASN-3815
    30. 31.
      "Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications."
      Rossetti S. , Strmecki L. , Gamble V. , Burton S. , Sneddon V. , Peral B. , Roy S. , Bakkaloglu A. , Komel R. , Winearls C.G. , Harris P.C.
      Am. J. Hum. Genet.68:46-63(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 GLN-13; PHE-75; CYS-139; 1992-PHE-THR-1993 DELINS LEU; 2220-ARG--PRO-2224 DEL; ASP-2336; ASP-2752; ILE-LEU-MET-ARG-2765 INS; MET-2768; LYS-2771; PRO-2816; SER-2858; 3012-THR--TYR-3017 DEL AND 3748-LEU--ARG-3752 DEL;VARIANTS SER-2674; MET-2708; THR-2734; LEU-2735; CYS-2765; MET-2782; ARG-2814; GLY-2888; ILE-2905; ASP-2966 AND LEU-3066
    31. 32.
      "Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families."
      Bouba I. , Koptides M. , Mean R. , Costi C.-E. , Demetriou K. , Georgiou I. , Pierides A. , Siamopoulos K. , Deltas C.C.
      Eur. J. Hum. Genet.9:677-684(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 LEU-2471; LEU-2519; GLY-2579 DEL; LEU-2613 DEL; ILE-2649 AND PHE-2978 DEL;VARIANTS MET-2582; ARG-2638; ASN-2972 AND LEU-3066
    32. 33.
      "Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples."
      Phakdeekitcharoen B. , Watnick T.J. , Germino G.G.
      J. Am. Soc. Nephrol.12:955-963(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 ARG-967; ARG-2696; GLY-2985; CYS-3039 AND ILE-3285;VARIANTS VAL-88 AND ARG-3311
    33. 34.
      "Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family."
      Mizoguchi M. , Tamura T. , Yamaki A. , Higashihara E. , Shimizu Y.
      J. Hum. Genet.46:511-517(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 MET-3510;VARIANT MET-3008
    34. 35.
      "Mutational analysis within the 3' region of the PKD1 gene in Japanese families."
      Tsuchiya K. , Komeda M. , Takahashi M. , Yamashita N. , Cigira M. , Suzuki T. , Suzuki K. , Nihei H. , Mochizuki T.
      Mutat. Res.458:77-84(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 ARG-3560; GLN-3719 AND TRP-3753;VARIANT MET-3510
    35. 36.
      "Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease."
      Eo H.-S. , Lee J.G. , Ahn C. , Cho J.T. , Hwang D.Y. , Hwang Y.H. , Lee E.J. , Kim Y.S. , Han J.S. , Kim S. , Lee J.S. , Jeoung D.I. , Lee S.E. , Kim U.K.
      Clin. Genet.62:169-174(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 SER-3602 AND SER-4255
    36. 37.
      "Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families."
      McCluskey M. , Schiavello T. , Hunter M. , Hantke J. , Angelicheva D. , Bogdanova N. , Markoff A. , Thomas M. , Dworniczak B. , Horst J. , Kalaydjieva L.
      Hum. Mutat.19:240-250(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 CYS-381; ASP-2185; THR-2421 DEL; ASP-2785 AND 3027-THR--ARG-3039 DEL;VARIANTS GLN-739; THR-1092; ARG-1399; MET-1649; ARG-2638; CYS-2765 AND LEU-3066
    37. 38.
      "Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients."
      Inoue S. , Inoue K. , Utsunomiya M. , Nozaki J. , Yamada Y. , Iwasa T. , Mori E. , Yoshinaga T. , Koizumi A.
      Hum. Mutat.19:622-628(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 ILE-2083; ARG-2814 AND PRO-2816;VARIANTS MET-87 AND MET-3510
    38. 39.
      "Mutation screening of the PKD1 transcript by RT-PCR."
      Burtey S. , Lossi A.M. , Bayle J. , Berland Y. , Fontes M.
      J. Med. Genet.39:422-429(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKD1 HIS-987;VARIANTS ARG-1399 AND VAL-4045
    39. 40.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 TRP-1340; LYS-1811; CYS-2092; ILE-2260 DEL; PHE-3167 AND PRO-3852;VARIANTS LEU-61; SER-572; THR-1092; SER-1168; ARG-1399; LEU-1684; ILE-1943; ARG-2638; SER-2674; MET-2708; ARG-2814; LEU-2958; ASN-2977; MET-3057; GLN-3435; VAL-3512; VAL-4045; VAL-4059; SER-4124; ILE-4146 AND PHE-4190
    40. 41.
      "Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease."
      Ding L. , Zhang S. , Qiu W. , Xiao C. , Wu S. , Zhang G. , Cheng L. , Zhang S.
      Nephrol. Dial. Transplant.17:75-80(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 ASP-3632; LEU-3649 AND THR-3678;VARIANTS VAL-4045; VAL-4059; GLU-4102; PRO-4106 AND ILE-4146
    41. 42.
      "Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype."
      Rossetti S. , Chauveau D. , Kubly V. , Slezak J.M. , Saggar-Malik A.K. , Pei Y. , Ong A.C.M. , Stewart F. , Watson M.L. , Bergstralh E.J. , Winearls C.G. , Torres V.E. , Harris P.C.
      Lancet361:2196-2201(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 ARG-164; GLY-210; ARG-508; ASP-690; ASN-1240 DEL; PRO-1667; LYS-1811; CYS-2092; CYS-2200; ILE-2260 DEL; ARG-2370; TYR-2373; LYS-2771; LEU-2802; ASN-3188 DEL; LEU-3355; PRO-3682 AND ARG-3751
    42. 43.
      "Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns."
      Peltola P. , Lumiaho A. , Miettinen R. , Pihlajamaeki J. , Sandford R. , Laakso M.
      J. Mol. Med.83:638-646(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 SER-845; MET-3138 AND PRO-3954;VARIANTS HIS-36; ARG-2638; LEU-3066; MET-3510; VAL-3512; VAL-4045 AND VAL-4059
    43. 44.
      "Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease."
      Tan Y.-C. , Blumenfeld J.D. , Anghel R. , Donahue S. , Belenkaya R. , Balina M. , Parker T. , Levine D. , Leonard D.G.B. , Rennert H.
      Hum. Mutat.30:264-273(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 LEU-61; ILE-99; TYR-594; THR-1092; MET-1242; CYS-2200; LYS-2422; ARG-2638; LEU-3066; SER-3726 AND VAL-4155;VARIANTS HIS-36; GLN-739; ARG-1399; THR-1516; THR-1871; VAL-1926; ASP-1952; MET-2708; ARG-2814; VAL-3512; VAL-4045 AND VAL-4059
    44. 45.
      "Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)."
      Hoefele J. , Mayer K. , Scholz M. , Klein H.G.
      Nephrol. Dial. Transplant.26:2181-2188(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 GLY-97; ARG-436; PRO-442; ARG-727; PRO-727; ASP-2391; TRP-2434; TYR-2546; CYS-2569; THR-2646; ARG-2889; PRO-3154; ARG-3603 AND GLN-3750
    45. 46.
      "Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients."
      Audrezet M.P. , Gall E.C. , Chen J.M. , Redon S. , Quere I. , Creff J. , Benech C. , Maestri S. , Meur Y.L. , Ferec C.
      Hum. Mutat.33:1239-1250(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKD1 CYS-325; TRP-611; ASP-698; PRO-727; GLY-1206; CYS-2379; CYS-2767; LYS-2771; ARG-2995; SER-3651; GLN-3750; TRP-3753; CYS-4150 AND TRP-4276
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