295 related articles for article (PubMed ID: 15771341)
21. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S; Torra R; Coto E; Consugar M; Kubly V; Málaga S; Navarro M; El-Youssef M; Torres VE; Harris PC
Kidney Int; 2003 Aug; 64(2):391-403. PubMed ID: 12846734
[TBL] [Abstract][Full Text] [Related]
22. A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.
Outeda P; Menezes L; Hartung EA; Bridges S; Zhou F; Zhu X; Xu H; Huang Q; Yao Q; Qian F; Germino GG; Watnick T
Kidney Int; 2017 Nov; 92(5):1130-1144. PubMed ID: 28729032
[TBL] [Abstract][Full Text] [Related]
23. [Investigation of the gene locus in autosomal polycystic kidney disease in a 21 year old female patient with congenital hepatic fibrosis and polycystic liver].
Kosztolányi S; Gasztonyi B; Vincze A; Battyány I; Hegedús G; Czakó M; Pár A; Mózsik G
Orv Hetil; 2002 Nov; 143(46):2593-6. PubMed ID: 12520854
[TBL] [Abstract][Full Text] [Related]
24. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
Zerres K; Senderek J; Rudnik-Schöneborn S; Eggermann T; Kunze J; Mononen T; Kääriäinen H; Kirfel J; Moser M; Buettner R; Bergmann C
Clin Genet; 2004 Jul; 66(1):53-7. PubMed ID: 15200508
[TBL] [Abstract][Full Text] [Related]
25. Molecular genetics of autosomal recessive polycystic kidney disease.
Harris PC; Rossetti S
Mol Genet Metab; 2004 Feb; 81(2):75-85. PubMed ID: 14741187
[TBL] [Abstract][Full Text] [Related]
26. Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.
Bitarafan F; Garshasbi M
Iran J Kidney Dis; 2018 Nov; 12(6):350-358. PubMed ID: 30595564
[TBL] [Abstract][Full Text] [Related]
27. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C; Senderek J; Windelen E; Küpper F; Middeldorf I; Schneider F; Dornia C; Rudnik-Schöneborn S; Konrad M; Schmitt CP; Seeman T; Neuhaus TJ; Vester U; Kirfel J; Büttner R; Zerres K;
Kidney Int; 2005 Mar; 67(3):829-48. PubMed ID: 15698423
[TBL] [Abstract][Full Text] [Related]
28. Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
Richards T; Modarage K; Dean C; McCarthy-Boxer A; Hilton H; Esapa C; Norman J; Wilson P; Goggolidou P
Biochim Biophys Acta Mol Basis Dis; 2019 Feb; 1865(2):378-390. PubMed ID: 30414501
[TBL] [Abstract][Full Text] [Related]
29. Autosomal recessive polycystic kidney disease (ARPKD).
Zerres K; Rudnik-Schöneborn S; Senderek J; Eggermann T; Bergmann C
J Nephrol; 2003; 16(3):453-8. PubMed ID: 12832752
[TBL] [Abstract][Full Text] [Related]
30. Ameliorating liver disease in an autosomal recessive polycystic kidney disease mouse model.
Yanda MK; Zeidan A; Cebotaru L
Am J Physiol Gastrointest Liver Physiol; 2023 May; 324(5):G404-G414. PubMed ID: 36880660
[TBL] [Abstract][Full Text] [Related]
31. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
Michel-Calemard L; Dijoud F; Till M; Lambert JC; Vercherat M; Tardy V; Coubes C; Morel Y
Clin Genet; 2009 Feb; 75(2):203-6. PubMed ID: 19021639
[No Abstract] [Full Text] [Related]
32. PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease.
Yang J; Zhang S; Zhou Q; Guo H; Zhang K; Zheng R; Xiao C
J Biochem Mol Biol; 2007 Jul; 40(4):467-74. PubMed ID: 17669261
[TBL] [Abstract][Full Text] [Related]
33. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy.
Gaspar H; Michel-Calemard L; Morel Y; Wisser J; Stallmach T; Schinzel A
Prenat Diagn; 2006 Apr; 26(4):392-3. PubMed ID: 16566041
[No Abstract] [Full Text] [Related]
34. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Küpper F; Dornia C; Schneider F; Senderek J; Zerres K
Hum Mutat; 2005 Mar; 25(3):225-31. PubMed ID: 15706593
[TBL] [Abstract][Full Text] [Related]
35. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Senderek J; Küpper F; Schneider F; Dornia C; Windelen E; Eggermann T; Rudnik-Schöneborn S; Kirfel J; Furu L; Onuchic LF; Rossetti S; Harris PC; Somlo S; Guay-Woodford L; Germino GG; Moser M; Büttner R; Zerres K
Hum Mutat; 2004 May; 23(5):453-63. PubMed ID: 15108277
[TBL] [Abstract][Full Text] [Related]
36. [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].
Rostol'tsev KV; Burenkov RA; Kuz'micheva IA
Arkh Patol; 2012; 74(3):57-60. PubMed ID: 22937583
[TBL] [Abstract][Full Text] [Related]
37. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Ebner K; Dafinger C; Ortiz-Bruechle N; Koerber F; Schermer B; Benzing T; Dötsch J; Zerres K; Weber LT; Beck BB; Liebau MC
Pediatr Nephrol; 2017 Jul; 32(7):1269-1273. PubMed ID: 28364132
[TBL] [Abstract][Full Text] [Related]
38. [Polycystic kidney diseases: molecular genetics and counselling].
Lespinasse J; Fourcade J; Schir F
Nephrol Ther; 2006 Jul; 2(3):120-6. PubMed ID: 16890136
[TBL] [Abstract][Full Text] [Related]
39. Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys.
Hu B; He X; Li A; Qiu Q; Li C; Liang D; Zhao P; Ma J; Coffey RJ; Zhan Q; Wu G
Exp Cell Res; 2011 Jan; 317(2):173-87. PubMed ID: 20875407
[TBL] [Abstract][Full Text] [Related]
40. Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway.
Zheng R; Wang L; Fan J; Zhou Q
Cell Biol Int; 2009 Sep; 33(9):926-33. PubMed ID: 19524688
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
