NPHP4: Difference between revisions

Revision as of 18:59, 27 January 2014

Revision as of 19:49, 1 September 2015

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{{PBB_Further_reading

| citations =

*{{cite journal | author|vauthors=Ishikawa K, Nagase T, Suyama M, ''et al.''etal |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 }}

*{{cite journal | author=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028–35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200 }}

*{{cite journal | author|vauthors=Mollet G, Salomon R, Gribouval O, ''et al.''etal |title=The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. |journal=Nat. Genet. |volume=32 |issue= 2 |pages= 300–5 |year= 2002 |pmid= 12244321 |doi= 10.1038/ng996 }}

*{{cite journal | author|vauthors=Strausberg RL, Feingold EA, Grouse LH, ''et al.''etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}

*{{cite journal | author|vauthors=Ota T, Suzuki Y, Nishikawa T, ''et al.''etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}

*{{cite journal | author|vauthors=Mollet G, Silbermann F, Delous M, ''et al.''etal |title=Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. |journal=Hum. Mol. Genet. |volume=14 |issue= 5 |pages= 645–56 |year= 2005 |pmid= 15661758 |doi= 10.1093/hmg/ddi061 }}

*{{cite journal | author|vauthors=Hoefele J, Sudbrak R, Reinhardt R, ''et al.''etal |title=Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 411 |year= 2006 |pmid= 15776426 |doi= 10.1002/humu.9326 }}

*{{cite journal | author|vauthors=Roepman R, Letteboer SJ, Arts HH, ''et al.''etal |title=Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 51 |pages= 18520–5 |year= 2006 |pmid= 16339905 |doi= 10.1073/pnas.0505774102 | pmc=1317916 }}

*{{cite journal | author|vauthors=Szafranski K, Schindler S, Taudien S, ''et al.''etal |title=Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. |journal= Genome Biology|volume=8 |issue= 8 |pages= R154 |year= 2007|pmid= 17672918 |doi= 10.1186/gb-2007-8-8-r154 | pmc=2374985 }}

*{{cite journal | author|vauthors=Mistry K, Ireland JH, Ng RC, ''et al.''etal |title=Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. |journal=Am. J. Kidney Dis. |volume=50 |issue= 5 |pages= 855–64 |year= 2007 |pmid= 17954299 |doi= 10.1053/j.ajkd.2007.08.009 }}

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