User menu

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Bibliographic reference Davila, Sonia ; Furu, Laszlo ; Gharavi, Ali G ; Tian, Xin ; Onoe, Tamehito ; et. al. Mutations in SEC63 cause autosomal dominant polycystic liver disease.. In: Nature genetics, Vol. 36, no. 6, p. 575-7 (2004)
Permanent URL http://hdl.handle.net/2078.1/25717
  1. Li Airong, Davila Sonia, Furu Laszlo, Qian Qi, Tian Xin, Kamath Patrick S., King Bernard F., Torres Vicente E., Somlo Stefan, Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease, 10.1086/368295
  2. Drenth Joost P.H., te Morsche Rene H.M., Smink Renate, Bonifacino Juan S., Jansen Jan B.M.J., Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease, 10.1038/ng1104
  3. Tahvanainen Pia, Tahvanainen Esa, Reijonen Hanna, Halme Leena, Kääriäinen Helena, Höckerstedt Krister, Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families, 10.1016/s0168-8278(02)00348-3
  4. Reynolds David M., Falk Cathy T., Li Airong, King Bernard F., Kamath Patrick S., Huston John, Shub Clarence, Iglesias Diana M., Martin Rodolfo S., Pirson Yves, Torres Vicente E., Somlo Stefan, Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1, 10.1086/316904
  5. Qian Q, Clinical profile of autosomal dominant polycystic liver disease, 10.1053/jhep.2003.50006
  6. Iglesias Diana M., 10.1023/a:1026623005401
  7. Pirson Y, Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2, 10.1053/jhep.1996.v23.pm0008591848
  8. Furu L., J. Am. Soc. Nephrol., 14, 2004 (2003)
  9. Rossetti Sandro, Strmecki Lana, Gamble Vicki, Burton Sarah, Sneddon Vicky, Peral Belén, Roy Sushmita, Bakkaloglu Aysin, Komel Radovan, Winearls Christopher G., Harris Peter C., Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications, 10.1086/316939
  10. Wu Guanqing, Somlo Stefan, Molecular Genetics and Mechanism of Autosomal Dominant Polycystic Kidney Disease, 10.1006/mgme.1999.2943
  11. Schnell Danny J, Hebert Daniel N, Protein Translocons, 10.1016/s0092-8674(03)00110-7
  12. Young B. P., Sec63p and Kar2p are required for the translocation of SRP-dependent precursors into the yeast endoplasmic reticulum in vivo, 10.1093/emboj/20.1.262
  13. Daniels Robert, Kurowski Brad, Johnson Arthur E, Hebert Daniel N, N-Linked Glycans Direct the Cotranslational Folding Pathway of Influenza Hemagglutinin, 10.1016/s1097-2765(02)00821-3
  14. Helenius A., Intracellular Functions of N-Linked Glycans, 10.1126/science.291.5512.2364
  15. Moore S.E., J. Biol. Chem., 265, 13104 (1990)