|
1
|
Onuchic LF, Furu L, Nagasawa Y, Hou X,
Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R,
et al: 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. Am J Hum Genet. 70:1305–1317. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Tavira B, Gomez J, Malaga S, Santos F,
Fernandez-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I,
Plasencia A, et al: A labor and cost effective next generation
sequencing of PKHD1 in autosomal recessive polycystic kidney
disease patients. Gene. 561:165–169. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Dorn L, Menezes LF, Mikuz G, Otto HF,
Onuchic LF and Sergi C: Immunohistochemical detection of polyductin
and co-localization with liver progenitor cell markers during
normal and abnormal development of the intrahepatic biliary system
and in adult hepatobiliary carcinomas. J Cell Mol Med.
13:1279–1290. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Ward CJ, Hogan MC, Rossetti S, Walker D,
Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M,
et al: The gene mutated in autosomal recessive polycystic kidney
disease encodes a large, receptor-like protein. Nat Genet.
30:259–269. 2002. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Pang M, Liu Y, Hou X, Yang J, He X, Hou N,
Liu P, Liang L, Fu J, Wang K, et al: A novel APC mutation
identified in a large Chinese family with familial adenomatous
polyposis and a brief literature review. Mol Med Rep. 18:1423–1432.
2018.PubMed/NCBI
|
|
6
|
Gunay-Aygun M, Font-Montgomery E, Lukose
L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT,
Turkbey B, Fischer R, Bernardini I, et al: Characteristics of
congenital hepatic fibrosis in a large cohort of patients with
autosomal recessive polycystic kidney disease. Gastroenterology.
144:112–121.e2. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Frank V, Zerres K and Bergmann C:
Transcriptional complexity in autosomal recessive polycystic kidney
disease. Clin J Am Soc Nephrol. 9:1729–1736. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Xu Y, Xiao B, Jiang WT, Wang L, Gen HQ,
Chen YW, Sun Y and Ji X: A novel mutation identified in PKHD1 by
targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD
family. Gene. 551:33–38. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Gunay-Aygun M, Font-Montgomery E, Lukose
L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H,
Piwnica-Worms K, et al: Correlation of kidney function, volume and
imaging findings, and PKHD1 mutations in 73 patients with autosomal
recessive polycystic kidney disease. Clin J Am Soc Nephrol.
5:972–984. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Bitarafan F and Garshasbi M: Molecular
genetic analysis of PKHD1 mutations in pedigrees with autosomal
recessive polycystic kidney disease. Iran J Kidney Dis. 12:350–358.
2018.PubMed/NCBI
|
|
11
|
Gunay-Aygun M, Tuchman M, Font-Montgomery
E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG,
Piwnica-Worms K, Bryant J, et al: PKHD1 sequence variations in 78
children and adults with autosomal recessive polycystic kidney
disease and congenital hepatic fibrosis. Mol Genet Metab.
99:160–173. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Datta R, Shah GN, Rubbelke TS, Waheed A,
Rauchman M, Goodman AG, Katze MG and Sly WS: Progressive renal
injury from transgenic expression of human carbonic anhydrase IV
folding mutants is enhanced by deficiency of p58IPK. Proc Natl Acad
Sci USA. 107:6448–6452. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
O'Meara CC, Hoffman M, Sweeney WE, Tsaih
SW, Xiao B, Jacob HJ, Avner ED and Moreno C: Role of genetic
modifiers in an orthologous rat model of ARPKD. Physiol Genomics.
44:741–753. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Koga T, Duan H, Urabe K and Furue M:
IFN-gamma-positive immunostaining in psoriatic lesional
keratinocytes-reply to the comments of McKenzie. et al Eur J
Dermatol. 13:992003.PubMed/NCBI
|