PKD2 Gene

Aliases
for PKD2 gene

Previous GC identifers: GC04P089086 GC04P089230 GC04P089387 GC04P089285 GC04P089147 GC04P084675

Summaries
for PKD2 gene

Genomic Views
for PKD2 gene

RefSeq DNA sequence:

NC_000004.11  NC_018915.1  NT_016354.19  

SwitchGear Promoter luciferase reporter plasmid: PKD2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD2

PKD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P088929:  view genomic region     (about GC identifiers)

Proteins
for PKD2 gene

6 PDB 3D structures from and Proteopedia for PKD2:

2KLD (3D)        2KLE (3D)        2KQ6 (3D)        2Y4Q (3D)        3HRN (3D)        3HRO (3D)    

Explore the universe of human proteins at neXtProt for PKD2: NX_Q13563

Post-translational modifications:

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	Uscn Proteins for PKD2

Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20):    About this table

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	Uscn ELISAs and CLIAs for PKD2

Protein Domains /
Families
for PKD2 gene

ProtoNet protein and cluster: Q13563

Function
for PKD2 gene

     Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18):    About this table

(inferred from 9 alleles) (MGI details for Pkd2)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PKD2

miRNA Products:		miRTarBase miRNAs that target PKD2: hsa-mir-17 (MIRT001158)
		OriGene 3'-UTR Clone: PKD2 Browse MicroRNA Expression Plasmids
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		8/69 QIAGEN miScript miRNA Assays for microRNAs that regulate PKD2 (see all 69):
		hsa-miR-548j hsa-miR-520e hsa-miR-607 hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-519a hsa-miR-4325
		SwitchGear 3'UTR luciferase reporter plasmid: PKD2 3' UTR sequence

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2

Pathways & Interactions
for PKD2 gene

	Super-pathway	contained gene-specific pathways
1	Calcium channels	Calcium channels 1.00
2	Selected targets of HNF1	Selected targets of HNF1 1.00

2 EMD Millipore Pathways for PKD2

	Selected targets of HNF1
	Calcium channels

Gene Ontology (GO): 5/52 biological process terms (GO ID links to tree view) (see all 52):    About this table

Drugs & Compounds
for PKD2 gene

Transcripts
for PKD2 gene

Expression
for PKD2 gene

PKD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAACTCCC

About this image
See PKD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKD2

SOURCE GeneReport for Unigene cluster: Hs.181272

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD2 Browse OriGene validated miRNA SYBR primer pairs
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2

Orthologs
for PKD2 gene

Paralogs
for PKD2 gene

Paralogs for PKD2 gene

NPIPP1²  PKDREJ²  PKD1²  PKD2L2²  PKD2L1²  PKD1L1²  

2 SIMAP similar genes for PKD2 using alignment to 3 protein entries:     PKD2_HUMAN (see all proteins):

PKD2L1    PKD2L2

PKD2 for paralogs           About GeneDecksing

Genomic Variants
for PKD2 gene

10/1299 NCBI SNPs in PKD2 are shown (see all 1299)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1115929391,2		--	84673507(+)	TACCTC/TAGAAC	1	--	us2k1		2		CSA EA	122
rs728734511,2	C	--	84673605(+)	AAGAAT/CAGACA	1	--	us2k1		2		WA	120
rs795120541,2	F	--	84673948(+)	CCTGGC/TTAATT	1	--	us2k1		1		WA	118
rs775381381,2		--	84674109(+)	TTCAGC/TTGCCA	1	--	us2k1		0	--	--	--	--
rs1128509851,2	C	--	84674155(+)	AATAAG/ACAGCT	1	--	us2k1		1		NA	2
rs99919151,2	C	--	84674558(+)	TCTGTG/TCCTAG	1	--	us2k1		0	--	--	--	--
rs99919331,2	C	--	84674608(+)	CCGCAA/GGGAGA	1	--	us2k1		0	--	--	--	--
rs100142581,2	C,A	--	84674625(+)	ATCACA/GGTGGA	1	--	us2k1		0	--	--	--	--
rs758623491,2	C,F	--	84674730(+)	ACCAGC/TAGAAT	1	--	us2k1		1		WA	118
rs27281181,2	F	--	84675762(-)	CCAAGC/TCCCCG	2	G	syn1		1		EA	120

HapMap Linkage Disequilibrium report for PKD2 (88928820 - 88998929 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PKD2
     2 CNVs: 2536 3501
     1 Indel: 68758
Human Gene Mutation Database (HGMD): PKD2

Locus Specific Mutation Databases (LSDB): PKD2

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD2

DNA2.0 Custom Variant and Variant Library Synthesis for PKD2

Disorders / Diseases
for PKD2 gene

20/26 diseases for PKD2

10/18 Novoseek disease relationships for PKD2 gene (see all 18)    About this table

Publications
for PKD2 gene

PubMed articles for PKD2 gene, integrated from 9 sources (see all 270) (see top 10): (articles sorted by number of sources associating them with PKD2)

Utopia: connect your pdf to the dynamic world of online information

1. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (PubMed id 14993477)^{1, 2, 4, 9} Stekrova J.... Kohoutova M. (2004)
2. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PubMed id 10760273)^{1, 2, 9} Gallagher A.R.... Witzgall R. (2000)
3. Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease. (PubMed id 15717641)^{1, 4, 9} Chang M.Y....Wu Chou Y.H. (2005)
4. Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (PubMed id 9286709)^{1, 2, 9} Hayashi T.... Somlo S. (1997)
5. A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. (PubMed id 16192288)^{1, 2, 9} Hackmann K....Gerke V. (2005)
6. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. (PubMed id 10411676)^{1, 2, 9} Torra R.... San Millan J.L. (1999)
7. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (PubMed id 12707387)^{1, 2, 9} Magistroni R....Pei Y. (2003)
8. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. (PubMed id 10541293)^{1, 2, 9} Reynolds D.M.... Somlo S. (1999)
9. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. (PubMed id 10835625)^{1, 2, 9} Watnick T.J.... Pei Y. (2000)
10. A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. (PubMed id 8954772)^{1, 2, 9} Schneider M.C.... Weremowicz S. (1996)
11. Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. (PubMed id 18694932)^{1, 2} Celic A.... Boggon T.J. (2008)
12. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
13. Polycystin channels and kidney disease. (PubMed id 11698076)^{1, 2} Stayner C. and Zhou J. (2001)
14. In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. (PubMed id 10913159)^{1, 2} Lehtonen S....Lehtonen E. (2000)
15. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). (PubMed id 9326320)^{1, 2} Veldhuisen B.... Peters D.J.M. (1997)
16. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. (PubMed id 8650545)^{1, 2} Mochizuki T.... Somlo S. (1996)
17. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. (PubMed id 8298643)^{1, 3} Peters D.J....Constantinou-Deltas C.D. (1993)
18. Specific association of the gene product of PKD2 with the TRPC1 channel. (PubMed id 10097141)^{1, 9} Tsiokas L.... Sukhatme V.P. (1999)
19. Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. (PubMed id 19098310)^{1, 9} Park E.Y....Park J.H. (2009)
20. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. (PubMed id 11891195)^{1, 9} Chauvet V....Gubler M.C. (2002)
21. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. (PubMed id 9192675)^{1, 9} Tsiokas L....Walz G. (1997)
22. [Genetic analysis (PKD2) of autosomal dominant polycy stic kidney disease] (PubMed id 19936001)^{1, 9} GA^mez P.F....Romo J.M. (2009)
23. NCAM as a cystogenesis marker gene of PKD2 overexpression. (PubMed id 18755075)^{1, 9} Yoo K.H....Park J.H. (2008)
24. [A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene] (PubMed id 16215947)^{1, 9} Sun Y....Zhang S.Z. (2005)
25. Overexpression of PKD2 in the mouse is associated with renal tubulopathy. (PubMed id 18048422)^{1, 9} Burtey S....Fontes M. (2008)
26. Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (PubMed id 11968093)^{2, 9} Reiterova J.... Zidovska J. (2002)
27. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. (PubMed id 9949210)^{1, 9} Koptides M....Constantinou Deltas C. (1999)
28. PKD1 interacts with PKD2 through a probable coiled-coil domain. (PubMed id 9171830)^{1, 9} Qian F....Germino G.G. (1997)
29. A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). (PubMed id 9175744)^{1, 9} Xenophontos S....Deltas C.C. (1997)
30. Molecular advances in autosomal dominant polycystic k idney disease. (PubMed id 20219615)^{1, 9} Gallagher A.R....Somlo S. (2010)
31. Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. (PubMed id 15001556)^{1, 9} Aguiari G....Del Senno L. (2004)
32. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. (PubMed id 10770959)^{1, 9} Foggensteiner L....Sandford R. (2000)
33. Family history of renal disease severity predicts the mutated gene in ADPKD. (PubMed id 19443633)^{1, 9} Barua M....Pei Y. (2009)
34. A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7. (PubMed id 19812035)^{1, 9} Miyagi K....Mori Y. (2009)
35. Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. (PubMed id 16551655)^{1, 9} Streets A.J....Ong A.C. (2006)
36. [Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2] (PubMed id 15300626)^{1, 9} Zhang W.L....Mei C.L. (2004)
37. Polycystic disease of the liver. (PubMed id 15382167)^{1, 9} Everson G.T....Doctor R.B. (2004)
38. New insights into polycystic kidney disease and its treatment. (PubMed id 9529618)^{1, 9} Torres V.E. (1998)
39. Ca2+-dependent conformational changes in a C-terminal cytosolic domain of polycystin-2. (PubMed id 19546223)^{1, 9} Schumann F....Kalbitzer H.R. (2009)
40. TRPP2 channel regulation. (PubMed id 17217069)^{1, 9} Witzgall R. (2007)
41. Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2. (PubMed id 18273441)^{1, 9} Kuehn E.W....Walz G. (2007)
42. Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1. (PubMed id 17303584)^{1, 9} Tazon-Vega B....Torra R. (2007)
43. Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells. (PubMed id 16278216)^{1, 9} Grimm D.H....Caplan M.J. (2006)
44. Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. (PubMed id 17008358)^{1, 9} Wu Y....Chen X.Z. (2006)
45. Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. (PubMed id 15772804)^{2, 9} Peltola P....Laakso M. (2005)
46. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. (PubMed id 15780076)^{1, 9} Ong A.C. and Harris P.C. (2005)
47. Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling. (PubMed id 16223735)^{1, 9} Li Y....Guggino W.B. (2005)
48. Alpha-actinin associates with polycystin-2 and regulates its channel activity. (PubMed id 15843396)^{1, 9} Li Q....Chen X.Z. (2005)
49. Regulation of calcium signaling by polycystin-2. (PubMed id 15130895)^{1, 9} Cantiello H.F. (2004)
50. Polycystin-2 associates with tropomyosin-1, an actin microfilament component. (PubMed id 12527301)^{1, 9} Li Q....Chen X.Z. (2003)
51. Polycystin-2 interacts with troponin I, an angiogenesis inhibitor. (PubMed id 12525172)^{1, 9} Li Q....Chen X.Z. (2003)
52. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. (PubMed id 22508176)¹ Audrezet M.P.... Ferec C. (2012)
53. Structural interaction and functional regulation of po lycystin-2 by filamin. (PubMed id 22802962)¹ Wang Q....Chen X.Z. (2012)
54. Polycystin-1 and polycystin-2 are both required to amp lify inositol-trisphosphate-induced Ca2+ release. (PubMed id 22456092)¹ Mekahli D....Missiaen L. (2012)
55. Neonatal onset autosomal dominant polycystic kidney di sease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to unipar ental disomy. (PubMed id 22114106)¹ Losekoot M....Peters D.J. (2012)
56. Interferon-g-induced PD-L1 surface expression on human oral squamous carcinoma via PKD2 signal pathway. (PubMed id 22204817)¹ Chen J....Zhang P. (2012)
57. Calcium-induced conformational changes in C-terminal t ail of polycystin-2 are necessary for channel gating. (PubMed id 22474326)¹ Celic A.S....Boggon T.J. (2012)
58. Pathway analysis of genome-wide association studies on uric acid concentrations. (PubMed id 22609445)¹ Lee Y.H. and Song G.G. (2012)
59. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)¹ Okada Y....Tanaka T. (2012)
60. Protein kinase D2 is a novel regulator of glioblastom a growth and tumor formation. (PubMed id 21727210)¹ Azoitei N....Seufferlein T. (2011)
61. PKD2 mediates multi-drug resistance in breast cancer cells through modulation of P-glycoprotein expression. (PubMed id 20934246)¹ Chen J....Zhang P. (2011)
62. A single amino acid residue constitutes the third dim erization domain essential for the assembly and function of the tetrameric poly cystin-2 (TRPP2) channel. (PubMed id 21474446)¹ Feng S....Ong A.C. (2011)
63. [Identification of mutations in PKD1 and PKD2 genes i n two Chinese families with autosomal dominant polycystic kidney disease]. (PubMed id 21983717)¹ Yu C.W....Zhang S.Z. (2011)
64. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
65. Association of PKD2 (polycystin 2) mutations with lef t-right laterality defects. (PubMed id 21719175)¹ Bataille S....Burtey S. (2011)
66. Macromolecular assembly of polycystin-2 intracytosoli c C-terminal domain. (PubMed id 21622852)¹ Ferreira F.M....Onuchic L.F. (2011)
67. The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes. (PubMed id 21490950)¹ Fogelgren B....Lipschutz J.H. (2011)
68. Protein kinase C mediates platelet secretion and thro mbus formation through protein kinase D2. (PubMed id 21527521)¹ Konopatskaya O....Poole A.W. (2011)
69. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
70. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. (PubMed id 22034641)¹ Bergmann C....Zerres K. (2011)
71. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). (PubMed id 21115670)² Hoefele J.... Klein H.G. (2010)
72. Identification of the structural motif responsible fo r trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2. (PubMed id 20408813)¹ Molland K.L....Yernool D.A. (2010)
73. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
74. Identification of cisplatin-resistance related genes in head and neck squamous cell carcinoma. (PubMed id 19569180)¹ Yamano Y....Tanzawa H. (2010)
75. Polycystin-2 activity is controlled by transcriptiona l coactivator with PDZ binding motif and PALS1-associated tight junction protei n. (PubMed id 20833712)¹ Duning K....Weide T. (2010)
76. Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site. (PubMed id 20980620)¹ Chapin H.C.... Caplan M.J. (2010)
77. Structure of the EF-hand domain of polycystin-2 sugge sts a mechanism for Ca2+-dependent regulation of polycystin-2 channel activity. (PubMed id 20439752)¹ Petri E.T....Hodsdon M.E. (2010)
78. Protein kinase D1 and D2 are involved in chemokine re lease induced by toll-like receptors 2, 4, and 5. (PubMed id 20557879)¹ Steiner T.S....Kifayet A. (2010)
79. A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes. (PubMed id 20168298)¹ Giamarchi A....Delmas P. (2010)
80. PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. (PubMed id 19801576)¹ Gao H....Walz G. (2010)
81. Protein kinase D-mediated phosphorylation of polycyst in-2 (TRPP2) is essential for its effects on cell growth and calcium channel ac tivity. (PubMed id 20881056)¹ Streets A.J....Ong A.C. (2010)
82. Role of the second cysteine-rich domain and Pro275 in protein kinase D2 interaction with ADP-ribosylation factor 1, trans-Golgi netw ork recruitment, and protein transport. (PubMed id 20089835)¹ Pusapati G.V....Seufferlein T. (2010)
83. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
84. MicroRNA-17 post-transcriptionally regulates polycyst ic kidney disease-2 gene and promotes cell proliferation. (PubMed id 19821056)¹ Sun H....Zhou Q. (2010)
85. Atomic force microscopy reveals the alternating subun it arrangement of the TRPP2-TRPV4 heterotetramer. (PubMed id 20682256)¹ Stewart A.P....Edwardson J.M. (2010)
86. The human polycystin-2 protein represents an integral membrane protein with six membrane-spanning domains and intracellular N- and C -termini. (PubMed id 21044049)¹ Hoffmeister H....Witzgall R. (2010)
87. Inhibition of CtBP1 activity by Akt-mediated phosphor ylation. (PubMed id 20361981)¹ Merrill J.C....Wotton D. (2010)
88. Quantifying the interaction of the C-terminal regions of polycystin-2 and polycystin-1 attached to a lipid bilayer by means of QCM. (PubMed id 20206434)¹ Behn D....Steinem C. (2010)
89. Ciliary polycystin-2 is a mechanosensitive calcium channel involved in nitric oxide signaling cascades. (PubMed id 19265036)¹ AbouAlaiwi W.A....Nauli S.M. (2009)
90. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
91. Polycystin-1 C-terminal cleavage is modulated by poly cystin-2 expression. (PubMed id 19491093)¹ Bertuccio C.A....Caplan M.J. (2009)
92. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (PubMed id 18837007)² Tan Y.-C.... Rennert H. (2009)
93. The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1. (PubMed id 19193631)¹ Zhang P....Cantiello H.F. (2009)
94. Evidence for pathogenicity of atypical splice mutatio ns in autosomal dominant polycystic kidney disease. (PubMed id 19158373)¹ Wang K....Pei Y. (2009)
95. Characterization of PKD protein-positive exosome-like vesicles. (PubMed id 19158352)¹ Hogan M.C....Ward C.J. (2009)
96. The transient receptor potential channels TRPP2 and T RPC1 form a heterotetramer with a 2:2 stoichiometry and an alternating subunit arrangement. (PubMed id 19850920)¹ Kobori T....Edwardson J.M. (2009)
97. Helicobacter pylori infection of gastric cancer cells elevates the level of expression and activation of protein kinase D2. (PubMed id 19783969)¹ Shabelnik M.Y....Sidorenko S.P. (2009)
98. Polycystin-1 interacts with inositol 1,4,5-trisphosph ate receptor to modulate intracellular Ca2+ signaling with implications for pol ycystic kidney disease. (PubMed id 19854836)¹ Li Y....Guggino W.B. (2009)
99. Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease. (PubMed id 19194729)¹ Fencl F....Seeman T. (2009)
100. Reactive oxygen species inhibit polycystin-2 (TRPP2) cation channel activity in term human syncytiotrophoblast. (PubMed id 18417208)¹ Montalbetti N....Cantiello H.F. (2008)
101. Mediation of angiotensin II-induced Ca2+ signaling by polycystin 2 in glomerular mesangial cells. (PubMed id 18256307)¹ Du J....Ma R. (2008)
102. Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2. (PubMed id 18701462)¹ Feng S....Ong A.C. (2008)
103. Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2. (PubMed id 18721488)¹ Felekkis K.N....Deltas C. (2008)
104. Centrosome overduplication and mitotic instability in PKD2 transgenic lines. (PubMed id 18725310)¹ Burtey S....Fontes M. (2008)
105. Submembraneous microtubule cytoskeleton: interaction of TRPP2 with the cell cytoskeleton. (PubMed id 18754774)¹ Chen X.Z....Cantiello H.F. (2008)
106. Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2alpha. (PubMed id 18664456)¹ Liang G....Chen X.Z. (2008)
107. A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease. (PubMed id 18552856)¹ Li X....Li R. (2008)
108. Polycystin-2 cation channel function in the human syncytiotrophoblast is regulated by microtubular structures. (PubMed id 17204494)¹ Montalbetti N....Cantiello H.F. (2007)
109. TRPP2 and autosomal dominant polycystic kidney disease. (PubMed id 17292589)¹ Kottgen M. (2007)
110. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. (PubMed id 17283055)¹ Wang S....Zhou J. (2007)
111. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)¹ Olsen J.V....Mann M. (2006)
112. Polycystins: inhibiting the inhibitors. (PubMed id 16319969)¹ Benezra R. (2005)
113. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. (PubMed id 15692563)¹ Koettgen M.... Walz G. (2005)
114. A polycystin multiprotein complex constitutes a cholesterol-containing signalling microdomain in human kidney epithelia. (PubMed id 16038619)¹ Roitbak T....Wandinger-Ness A. (2005)
115. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. (PubMed id 16311606)¹ Li X....Zhou J. (2005)
116. Effect of hydro-osmotic pressure on polycystin-2 channel function in the human syncytiotrophoblast. (PubMed id 16025301)¹ Montalbetti N....Cantiello H.F. (2005)
117. PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles. (PubMed id 15123714)¹ Rundle D.R....Tsiokas L. (2004)
118. Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. (PubMed id 15337773)¹ Jurczyk A....Doxsey S. (2004)
119. PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2. (PubMed id 15194699)¹ Hidaka S....Witzgall R. (2004)
120. Polycystin-2 as a signal transducer. (PubMed id 18727244)¹ Cantiello H.F....Gonzalez-Perrett S. (2004)
121. Troponin I binds polycystin-L and inhibits its calcium-induced channel activation. (PubMed id 12809519)¹ Li Q....Chen X.Z. (2003)
122. Role of polycystins in renal tubulogenesis. (PubMed id 12946628)¹ Boletta A. and Germino G.G. (2003)
123. Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. (PubMed id 11901144)¹ Newby L.J....Ong A.C. (2002)
124. Voltage dependence and pH regulation of human polycystin-2-mediated cation channel activity. (PubMed id 11991947)¹ Gonzalez-Perrett S....Cantiello H.F. (2002)
125. Polycystin-2 is an intracellular calcium release channel. (PubMed id 11854751)¹ Koulen P....Somlo S. (2002)
126. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
127. Mutations of the human polycystic kidney disease 2 (PKD2) gene. (PubMed id 11438989)¹ Deltas C.C. (2001)
128. Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel. (PubMed id 11252306)¹ Gonzalez-Perrett S....Cantiello H.F. (2001)
129. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)
130. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. (PubMed id 9573526)¹ Pei Y....St George-Hyslop P. (1998)
131. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)¹ Yu W.... Gibbs R.A. (1997)
132. Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. (PubMed id 9402976)¹ Viribay M....San Millan J.L. (1997)
133. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)¹ Andersson B.... Gibbs R.A. (1996)
134. PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. (PubMed id 17100995)⁹ Chung W....Ahn C. (2006)
135. Drosophila Pkd2 is haploid-insufficient for mediating optimal smooth muscle contractility. (PubMed id 14732716)⁹ Gao Z....Lu X. (2004)
136. PKD2 functions as an epidermal growth factor-activated plasma membrane channel. (PubMed id 16135816)⁹ Ma R....Tsiokas L. (2005)
137. Cloning and characterization of the murine pkd2 promoter. (PubMed id 10873385)⁹ Park J.H....Wu G. (2000)
138. Distinct and common developmental expression patterns of the murine Pkd2 and Pkd1 genes. (PubMed id 10781953)⁹ Guillaume R. and Trudel M. (2000)
139. The rat pkd2 protein assumes distinct subcellular distributions in different organs. (PubMed id 10600939)⁹ Obermuller N....Witzgall R. (1999)
140. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. (PubMed id 16430766)⁹ Vouk K....Komel R. (2006)
141. Current advances in molecular genetics of autosomal-dominant polycystic kidney disease. (PubMed id 11195048)⁹ Wu G. (2001)
142. Distinct protein domains regulate ciliary targeting and function of C. elegans PKD-2. (PubMed id 18037411)⁹ Knobel K.M....Barr M.M. (2008)
143. Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. (PubMed id 16720597)⁹ Chang M.Y....Ong A.C. (2006)
144. Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese. (PubMed id 15775720)⁹ Zhang S....Song J. (2005)
145. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. (PubMed id 11007674)⁹ Torra R....Darnell A. (2000)
146. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. (PubMed id 9773786)⁹ Pei Y....St George-Hyslop P. (1998)
147. [Expression of PKD1 and PKD2 transcripts and proteins and its significance in different types of kidney tissues and kidney lines] (PubMed id 16536277)⁹ Zhao H.D....Li L. (2005)
148. Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. (PubMed id 12140187)⁹ Wu G....Somlo S. (2002)
149. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. (PubMed id 11156533)⁹ Pei Y....St George-Hyslop P. (2001)
150. The role of the polycystins in kidney development. (PubMed id 10412869)⁹ van Adelsberg J.S. (1999)
151. Identification of genes involved in the ciliary trafficking of C. elegans PKD-2. (PubMed id 18407554)⁹ Bae Y.K....Knobel K.M. (2008)
152. Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions. (PubMed id 15770226)⁹ Lantinga-van Leeuwen I.S....Peters D.J. (2005)
153. Vascular expression of polycystin-2. (PubMed id 11134244)⁹ Torres V.E....Somlo S. (2001)
154. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PubMed id 10602361)⁹ Veldhuisen B.... Peters D.J.M. (1999)
155. Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2. (PubMed id 10207066)⁹ Arnould T....Walz G. (1999)
156. Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. (PubMed id 10362797)⁹ Ong A.C....Harris P.C. (1999)
157. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (PubMed id 10417277)⁹ Torra R....Darnell A. (1999)
158. Somatic inactivation of Pkd2 results in polycystic kidney disease. (PubMed id 9568711)⁹ Wu G....Somlo S. (1998)
159. DNA diagnosis and clinical manifestations of autosomal dominant polycystic kidney disease. (PubMed id 9595261)⁹ Merta M....Rysava R. (1997)
160. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families. (PubMed id 7705838)⁹ Constantinou-Deltas C.D....Pierides A. (1995)
161. Molecular diagnostics for autosomal dominant polycyst ic kidney disease. (PubMed id 20177400)⁹ Harris P.C. and Rossetti S. (2010)
162. The RNA-binding protein bicaudal C regulates polycyst in 2 in the kidney by antagonizing miR-17 activity. (PubMed id 20215348)⁹ Tran U....Wessely O. (2010)
163. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. (PubMed id 19165178)⁹ Rossetti S....Harris P.C. (2009)
164. PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. (PubMed id 17370309)⁹ Gout A.M....Ravine D. (2007)
165. The C-terminal tail of protein kinase D2 and protein kinase D3 regulates their intracellular distribution. (PubMed id 16494840)⁹ Papazyan R....Rey O. (2006)
166. DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study. (PubMed id 17132904)⁹ Binczak-Kuleta A....Ciechanowicz A. (2006)
167. Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. (PubMed id 16207829)⁹ Brown J.H.... Gauguier D. (2005)
168. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. (PubMed id 12842373)⁹ Rossetti S.... Harris P.C. (2003)
169. A tale of two tails: ciliary mechanotransduction in ADPKD. (PubMed id 12829010)⁹ Cantiello H.F. (2003)
170. Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts. (PubMed id 12734101)⁹ Loghman-Adham M....Zhou J. (2003)
171. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. (PubMed id 12840011)⁹ Grimm D.H....Caplan M.J. (2003)
172. Glomerulocystic kidney disease in a family. (PubMed id 11981068)⁹ Gusmano R....Seri M. (2002)
173. The polycystin-1 C-terminal fragment triggers branching morphogenesis and migration of tubular kidney epithelial cells. (PubMed id 11854320)⁹ Nickel C....Walz G. (2002)
174. Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report. (PubMed id 11553048)⁹ Lee J.G....Lee J.S. (2001)
175. Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. (PubMed id 10655152)⁹ Wu G. and Somlo S. (2000)
176. An ever-expanding story of cyst formation. (PubMed id 10928266)⁹ Gallagher A.R....Witzgall R. (2000)
177. Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. (PubMed id 10655555)⁹ Koptides M....Deltas C.C. (2000)
178. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. (PubMed id 11140688)⁹ Hanaoka K....Germino G.G. (2000)
179. Identification and characterization of polycystin-2, the PKD2 gene product. (PubMed id 10497221)⁹ Cai Y....Somlo S. (1999)
180. Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. (PubMed id 9878261)⁹ Wu G.... Somlo S. (1998)
181. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families. (PubMed id 8891380)⁹ Deltas C.C....Pierides A. (1996)
182. ERK1/2-dependent vascular endothelial growth factor s ignaling sustains cyst growth in polycystin-2 defective mice. (PubMed id 19766642)⁹ Spirli C....Strazzabosco M. (2010)
183. Diagnosis and screening of autosomal dominant polycys tic kidney disease. (PubMed id 20219617)⁹ Pei Y. and Watnick T. (2010)
184. Molecular evolution of PKD2 gene family in mammals. (PubMed id 19184643)⁹ Ye C....Zhou Q. (2009)
185. Unified criteria for ultrasonographic diagnosis of AD PKD. (PubMed id 18945943)⁹ Pei Y....Ravine D. (2009)
186. Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease. (PubMed id 19056484)⁹ Endreffy E....TA_ri S. (2009)
187. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. (PubMed id 18640754)⁹ Reed B....Schrier R.W. (2008)
188. Diagnostic approach in autosomal dominant polycystic kidney disease. (PubMed id 17699332)⁹ Pei Y. (2006)
189. Molecular basis of autosomal dominant polycystic kidney disease. (PubMed id 15900113)⁹ Al-Bhalal L. and Akhtar M. (2005)
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191. Autosomal recessive and dominant polycystic kidney diseases. (PubMed id 15785425)⁹ Sessa A....Battini G. (2004)
192. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). (PubMed id 14872199)⁹ Boucher C. and Sandford R. (2004)
193. Characterization of microsatellite markers to diagnose ADPKD. (PubMed id 15135448)⁹ Bae Y....Kang S. (2004)
194. Molecular genetics of autosomal dominant polycystic kidney disease. (PubMed id 14596487)⁹ Pei Y. (2003)
195. Towards understanding the polycystins. (PubMed id 12411744)⁹ Kaletta T....Wilson P. (2003)
196. Molecular basis of autosomal dominant polycystic kidney disease. (PubMed id 10435671)⁹ Watnick T. and Germino G.G. (1999)
197. The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease. (PubMed id 11212307)⁹ Sandford R....Foggensteiner L. (1999)
198. Autosomal dominant polycystic kidney disease: clinical and genetic aspects. (PubMed id 9442442)⁹ Sessa A....Turco A.E. (1997)
199. An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. (PubMed id 9158217)⁹ Turco A.E....Pignatti P.F. (1996)
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201. Colchicine treatment in autosomal dominant polycystic kidney disease: many points in common. (PubMed id 19765912)⁹ Solak Y....Biyik Z. (2010)
202. Carboxy terminal tail of polycystin-1 regulates local ization of TSC2 to repress mTOR. (PubMed id 20169078)⁹ Dere R....Walker C.L. (2010)
203. A novel dephosphorylation-activated conductance in a mouse renal collecting duct cell line. (PubMed id 19429644)⁹ Laycock S....Robson L. (2009)
204. Polycystic kidney disease. (PubMed id 18947299)⁹ Harris P.C. and Torres V.E. (2009)
205. Might there be an association between polycystic kidn ey disease and noncompaction of the ventricular myocardium? (PubMed id 19762607)⁹ Lubrano R....Elli M. (2009)
206. Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series. (PubMed id 19515475)⁹ Poster D....Serra A.L. (2009)
207. Polycystin-1 and -2 dosage regulates pressure sensing . (PubMed id 19879844)⁹ Sharif-Naeini R....HonorAc E. (2009)
208. Emerging evidence of a link between the polycystins a nd the mTOR pathways. (PubMed id 19863783)⁹ Boletta A. (2009)
209. Linkage confirms canine pkd1 orthologue as a candidat e for bull terrier polycystic kidney disease. (PubMed id 19397527)⁹ O'Leary C.A....Corley S. (2009)
210. Pkd2 dosage influences cellular repair responses foll owing ischemia-reperfusion injury. (PubMed id 19729489)⁹ Prasad S....Ong A.C. (2009)
211. Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. (PubMed id 18235088)⁹ Kim I....Wu G. (2008)
212. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. (PubMed id 18818683)⁹ Consugar M.B....Harris P.C. (2008)
213. Serial analysis of the vascular endothelial transcriptome under static and shear stress conditions. (PubMed id 18505769)⁹ Chu T.J. and Peters D.G. (2008)
214. Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. (PubMed id 18286309)⁹ Williams S.S....Igarashi P. (2008)
215. Mouse models of polycystic kidney disease. (PubMed id 19186247)⁹ Wilson P.D. (2008)
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217. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. (PubMed id 17429049)⁹ Rossetti S. and Harris P.C. (2007)
218. TRP channels and kidney disease: lessons from polycystic kidney disease. (PubMed id 17233617)⁹ Qamar S....Sandford R. (2007)
219. Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). (PubMed id 17182135)⁹ Stypmann J....Pennekamp P. (2007)
220. Molecular pathogenesis of autosomal dominant polycystic kidney disease. (PubMed id 16515728)⁹ Yoder B.K....Sandford R. (2006)
221. Nonspecific cation current associated with native polycystin-2 in HEK-293 cells. (PubMed id 16396967)⁹ Pelucchi B....Belluzzi O. (2006)
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223. Research on autosomal dominant polycystic kidney disease in China. (PubMed id 17134592)⁹ Dai B. and Mei C.L. (2006)
224. A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats. (PubMed id 16943309)⁹ Gallagher A.R....Witzgall R. (2006)
225. A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression. (PubMed id 16914886)⁹ Ikeda M....Guggino W.B. (2006)
226. Polycystins: polymodal receptor/ion-channel cellular sensors. (PubMed id 15889307)⁹ Delmas P. (2005)
227. Polycystic liver and kidney diseases. (PubMed id 16338757)⁹ Tahvanainen E....Hockerstedt K. (2005)
228. Polycystic kidney disease. (PubMed id 16227765)⁹ Fall P.J. and Prisant L.M. (2005)
229. Feline polycystic kidney disease is linked to the PKD1 region. (PubMed id 15674734)⁹ Young A.E....Lyons L.A. (2005)
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231. The KLP-6 kinesin is required for male mating behaviors and polycystin localization in Caenorhabditis elegans. (PubMed id 15753033)⁹ Peden E.M. and Barr M.M. (2005)
232. Management of polycystic liver disease. (PubMed id 15701294)⁹ Everson G.T. and Taylor M.R. (2005)
233. Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease. (PubMed id 16049073)⁹ Le N.H....Peters D.J. (2005)
234. Polycystins: what polycystic kidney disease tells us about sperm. (PubMed id 14991728)⁹ Kierszenbaum A.L. (2004)
235. New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies. (PubMed id 15498457)⁹ Husson H....Ibraghimov-Beskrovnaya O. (2004)
236. The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. (PubMed id 15673153)⁹ Avery-Lynch M. (2004)
237. Calcium signaling and polycystin-2. (PubMed id 15336985)⁹ Anyatonwu G.I. and Ehrlich B.E. (2004)
238. A transcriptional network in polycystic kidney disease. (PubMed id 15029248)⁹ Gresh L....Pontoglio M. (2004)
239. Evolutionary conservation of Drosophila polycystin-2 as a calcium-activated cation channel. (PubMed id 15100357)⁹ Venglarik C.J....Lu X. (2004)
240. Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway. (PubMed id 15284290)⁹ Kim H....Kang S. (2004)
241. Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue. (PubMed id 12538736)⁹ Gogusev J....Droz D. (2003)
242. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (PubMed id 12529853)⁹ Li A.... Somlo S. (2003)
243. Polycystin-1 activates and stabilizes the polycystin-2 channel. (PubMed id 12407099)⁹ Xu G.M....Cantiello H.F. (2003)
244. Molecular basis of autosomal-dominant polycystic kidney disease. (PubMed id 12022474)⁹ Gallagher A.R....Witzgall R. (2002)
245. Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1. (PubMed id 11981261)⁹ Harris P.C. (2002)
246. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PubMed id 11959145)⁹ Li Q....Chen X.Z. (2002)
247. A complete mutation screen of the ADPKD genes by DHPLC. (PubMed id 11967008)⁹ Rossetti S.... Harris P.C. (2002)
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249. Polycystin-2 expression is increased following experimental ischaemic renal injury. (PubMed id 12454224)⁹ Zhao Y....Ong A.C. (2002)
250. The genes and proteins associated with poly-cystic kidney diseases. (PubMed id 12536190)⁹ Wilson P.D. (2002)
251. Clinical and genetic epidemiology of inherited renal disease in Newfoundland. (PubMed id 12028433)⁹ Parfrey P.S....Green J.S. (2002)
252. Polycystin: new aspects of structure, function, and regulation. (PubMed id 11274246)⁹ Wilson P.D. (2001)
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256. Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. (PubMed id 11558899)⁹ Mizoguchi M.... Shimizu Y. (2001)
257. Transport function of the naturally occurring pathogenic polycystin-2 mutant, R742X. (PubMed id 11302751)⁹ Chen X.Z....Zhou J. (2001)
258. Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV. (PubMed id 11013137)⁹ Bassi M.T.... Borsani G. (2000)
259. Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients. (PubMed id 10909847)⁹ Badenas C....Darnell A. (2000)
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