443 related articles for article (PubMed ID: 11898128)
1. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
Onuchic LF; Furu L; Nagasawa Y; Hou X; Eggermann T; Ren Z; Bergmann C; Senderek J; Esquivel E; Zeltner R; Rudnik-Schöneborn S; Mrug M; Sweeney W; Avner ED; Zerres K; Guay-Woodford LM; Somlo S; Germino GG
Am J Hum Genet; 2002 May; 70(5):1305-17. PubMed ID: 11898128
[TBL] [Abstract][Full Text] [Related]
2. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Küpper F; Schmitt CP; Vester U; Neuhaus TJ; Senderek J; Zerres K
J Med Genet; 2005 Oct; 42(10):e63. PubMed ID: 16199545
[TBL] [Abstract][Full Text] [Related]
3. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
Xiong H; Chen Y; Yi Y; Tsuchiya K; Moeckel G; Cheung J; Liang D; Tham K; Xu X; Chen XZ; Pei Y; Zhao ZJ; Wu G
Genomics; 2002 Jul; 80(1):96-104. PubMed ID: 12079288
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C; Senderek J; Sedlacek B; Pegiazoglou I; Puglia P; Eggermann T; Rudnik-Schöneborn S; Furu L; Onuchic LF; De Baca M; Germino GG; Guay-Woodford L; Somlo S; Moser M; Büttner R; Zerres K
J Am Soc Nephrol; 2003 Jan; 14(1):76-89. PubMed ID: 12506140
[TBL] [Abstract][Full Text] [Related]
5. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
Losekoot M; Haarloo C; Ruivenkamp C; White SJ; Breuning MH; Peters DJ
Hum Genet; 2005 Nov; 118(2):185-206. PubMed ID: 16133180
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
Onuchic LF; Mrug M; Hou X; Eggermann T; Bergmann C; Zerres K; Avner ED; Furu L; Somlo S; Nagasawa Y; Germino GG; Guay-Woodford LM
Am J Med Genet; 2002 Jul; 110(4):346-52. PubMed ID: 12116208
[TBL] [Abstract][Full Text] [Related]
8. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
Nagasawa Y; Matthiesen S; Onuchic LF; Hou X; Bergmann C; Esquivel E; Senderek J; Ren Z; Zeltner R; Furu L; Avner E; Moser M; Somlo S; Guay-Woodford L; Büttner R; Zerres K; Germino GG
J Am Soc Nephrol; 2002 Sep; 13(9):2246-58. PubMed ID: 12191969
[TBL] [Abstract][Full Text] [Related]
9. Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.
Menezes LF; Onuchic LF
Braz J Med Biol Res; 2006 Dec; 39(12):1537-48. PubMed ID: 17160262
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M; Tuchman M; Font-Montgomery E; Lukose L; Edwards H; Garcia A; Ausavarat S; Ziegler SG; Piwnica-Worms K; Bryant J; Bernardini I; Fischer R; Huizing M; Guay-Woodford L; Gahl WA
Mol Genet Metab; 2010 Feb; 99(2):160-73. PubMed ID: 19914852
[TBL] [Abstract][Full Text] [Related]
12. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ; Hogan MC; Rossetti S; Walker D; Sneddon T; Wang X; Kubly V; Cunningham JM; Bacallao R; Ishibashi M; Milliner DS; Torres VE; Harris PC
Nat Genet; 2002 Mar; 30(3):259-69. PubMed ID: 11919560
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
Bergmann C; Frank V; Küpper F; Schmidt C; Senderek J; Zerres K
J Hum Genet; 2006; 51(9):788-793. PubMed ID: 16897190
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L; Seeman T; Elisakova V; Reiterova J; Puchmajerova A; Stekrova J
BMC Med Genet; 2015 Dec; 16():116. PubMed ID: 26695994
[TBL] [Abstract][Full Text] [Related]
16. Pkhd1
Yang C; Harafuji N; Caldovic L; Yu W; Boddu R; Bhattacharya S; Barseghyan H; Gordish-Dressman H; Foreman O; Bebok Z; Eicher EM; Guay-Woodford LM
J Mol Med (Berl); 2023 Sep; 101(9):1141-1151. PubMed ID: 37584738
[TBL] [Abstract][Full Text] [Related]
17. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
Boddu R; Yang C; O'Connor AK; Hendrickson RC; Boone B; Cui X; Garcia-Gonzalez M; Igarashi P; Onuchic LF; Germino GG; Guay-Woodford LM
J Mol Med (Berl); 2014 Oct; 92(10):1045-56. PubMed ID: 24984783
[TBL] [Abstract][Full Text] [Related]
18. Transcriptional complexity in autosomal recessive polycystic kidney disease.
Frank V; Zerres K; Bergmann C
Clin J Am Soc Nephrol; 2014 Oct; 9(10):1729-36. PubMed ID: 25104275
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
