PKD1 ELISA Kit for Human(Homo sapiens) | EIAab.comPKD1 ELISA Kit for Human(Homo sapiens)

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PKD1 (Gene name),

Polycystin-1 (Protein name ), PKD1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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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

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SST

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

Pfam:

PF01825

SMR:

P98161

UniGene:

Hs.75813

KEGG:

hsa:5310

MIM:

173900

String:

P98161

STRING:

9606.ENSP00000262304

Uniprot:

P98161

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ELISA Kit for Human Polycystin-1

Cat.:

E9813h

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Manual:

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Packing:

96T

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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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Manual:

Looking for manual.

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Packing:

96T

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CLIA Kit for Human Polycystin-1

Cat.:

U9813m

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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

Protein for Human Polycystin-1

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Polycystic kidney disease: the complete structure of the PKD1 gene and its protein."
Gluecksmann-Kuis M.A. , Tayber O. , Woolf E.A. , Bougueleret L. , Deng N. , Alperin G.D. , Iris F. , Hawkins F. , Munro C. , Lakey N. , Duyk G. , Schneider M.C. , Geng L. , Zhang F. , Zhao Z. , Torosian S. , Reeders S.T. , Bork P. , more...
Cell81:289-298(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 [MRNA] (ISOFORM 1);VARIANT THR-1092
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.

"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.

"The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16."
Ward C.J. , Peral B. , Hughes J. , Thomas S. , Gamble V. , Maccarthy A.B. , Sloane-Stanley J. , Buckle V.J. , Kearney L. , Higgs D.R. , Ratcliffe P.J. , Harris P.C. , Roelfsema J.H. , Spruit L.L. , Saris J.J. , Dauwerse H.G. , Peters D.J.M. , Breuning M.H. , more...
Cell77:881-894(1994) [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] OF 2769-4303
5.

Ward C.J. , Peral B. , Hughes J. , Thomas S. , Gamble V. , Maccarthy A.B. , Sloane-Stanley J. , Buckle V.J. , Kearney L. , Higgs D.R. , Ratcliffe P.J. , Harris P.C. , Roelfsema J.H. , Spruit L.L. , Saris J.J. , Dauwerse H.G. , Peters D.J.M. , Breuning M.H. , more...
Cell78:725-725(1994) [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: ERRATUM
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
40.

"A complete mutation screen of the ADPKD genes by DHPLC."
Rossetti S. , Chauveau D. , Walker D. , Saggar-Malik A. , Winearls C.G. , Torres V.E. , Harris P.C.
Kidney Int.61:1588-1599(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 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
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
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
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
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
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
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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