医中誌リンクサービス


文献リスト

1) Veland IR, Awan A, Pedersen LB, et al. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol. 2009; 111: 39-53
医中誌リンクサービス
2) Yoder BK, Tousson A, Millican L, et al. Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium. Am J Physiol Renal Physiol. 2002; 282: F541-52
PubMed
医中誌リンクサービス
3) Barr MM, Sternberg PW. A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Nature. 1999; 401: 386-9
PubMed
医中誌リンクサービス
4) Haycraft CJ, Swoboda P, Taulman PD, et al. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development. 2001; 128: 1493-505
PubMed
医中誌リンクサービス
5) Barr MM, DeModena J, Braun D, et al. The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. Curr Biol. 2001; 11: 1341-6
PubMed CrossRef
医中誌リンクサービス
6) Yoder BK, Hou X, Guay-Woodford LM. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol. 2002; 13: 2508-16
PubMed CrossRef
医中誌リンクサービス
7) Adams M, Smith UM, Logan CV, et al. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet. 2008; 45: 257-67
PubMed CrossRef
医中誌リンクサービス
8) D'Angelo A, Franco B. The dynamic cilium in human diseases. Pathogenetics. 2009; 2: 3
PubMed CrossRef
医中誌リンクサービス
9) Delous M, Baala L, Salomon R, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007; 39: 875-81
PubMed CrossRef
医中誌リンクサービス
10) Nauli SM, Alenghat FJ, Luo Y, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003; 33: 129-37
PubMed CrossRef
医中誌リンクサービス
11) Ward CJ, Yuan D, Masyuk TV, et al. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet. 2003; 12: 2703-10
PubMed CrossRef
医中誌リンクサービス
12) Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009; 20: 23-35
PubMed CrossRef
医中誌リンクサービス
13) Mollet G, Silbermann F, Delous M, et al. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005; 14: 645-56
PubMed CrossRef
医中誌リンクサービス
14) Simons M, Gloy J, Ganner A, et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet. 2005; 37: 537-43
PubMed CrossRef
医中誌リンクサービス
15) Bergmann C, Fliegauf M, Brüchle NO, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008; 82: 959-70
PubMed CrossRef
医中誌リンクサービス
16) Wolf MT, Lee J, Panther F, Otto EA, et al. Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. J Am Soc Nephrol. 2005; 16: 676-87
PubMed CrossRef
医中誌リンクサービス
17) Otto EA, Loeys B, Khanna H, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005; 37: 282-8
PubMed CrossRef
医中誌リンクサービス
18) Sayer JA, Otto EA, O'Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006; 38: 674-81
PubMed CrossRef
医中誌リンクサービス
19) Baala L, Audollent S, Martinovic J, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007; 81: 170-9
PubMed CrossRef
医中誌リンクサービス
20) Attanasio M, Uhlenhaut NH, Sousa VH, et al. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007; 39: 1018-24
PubMed CrossRef
医中誌リンクサービス
21) Arts HH, Doherty D, van Beersum SE, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007; 39: 882-8
PubMed CrossRef
医中誌リンクサービス
22) Wolf MT, Saunier S, O'Toole JF, et al. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int. 2007; 72: 1520-6
PubMed CrossRef
医中誌リンクサービス
23) Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007; 316: 889-94
PubMed CrossRef
医中誌リンクサービス
24) Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet. 2007; 39: 724-6
PubMed CrossRef
医中誌リンクサービス
25) Otto EA, Trapp ML, Schultheiss UT, et al. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol. 2008; 19: 587-92
PubMed CrossRef
医中誌リンクサービス
26) Bukanov NO, Smith LA, Klinger KW, et al. Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature. 2006; 444: 949-52
PubMed CrossRef
医中誌リンクサービス
27) Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008; 51: 1-23
PubMed CrossRef
医中誌リンクサービス
28) Valente EM, Brancati F, Silhavy JL, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006; 59: 527-34
PubMed CrossRef
医中誌リンクサービス
29) Parisi MA, Bennett CL, Eckert ML, et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004; 75: 82-91
PubMed CrossRef
医中誌リンクサービス
30) Valente EM, Silhavy JL, Brancati F, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006; 38: 623-5
PubMed CrossRef
医中誌リンクサービス
31) Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009; 119: 428-37
PubMed CrossRef
医中誌リンクサービス
32) Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007; 129: 1201-13
PubMed CrossRef
医中誌リンクサービス
33) Romio L, Fry AM, Winyard PJ, et al. OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol. 2004; 15: 2556-68
PubMed CrossRef
医中誌リンクサービス
34) Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002; 31: 74-8
PubMed
医中誌リンクサービス
35) Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet. 2002; 31: 79-83
PubMed
医中誌リンクサービス
36) Li G, Vega R, Nelms K, et al. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007; 3: e8
PubMed CrossRef
医中誌リンクサービス
37) Ross AJ, May-Simera H, Eichers ER, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005; 37: 1135-40
PubMed CrossRef
医中誌リンクサービス
38) Park TJ, Mitchell BJ, Abitua PB, et al. Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet. 2008; 40: 871-9
PubMed CrossRef
医中誌リンクサービス
39) Corbit KC, Aanstad P, Singla V, et al. Vertebrate Smoothened functions at the primary cilium. Nature. 2005; 437: 1018-21
PubMed CrossRef
医中誌リンクサービス
40) May SR, Ashique AM, Karlen M, et al. Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol. 2005; 287: 378-89
PubMed CrossRef
医中誌リンクサービス
41) Rohatgi R, Milenkovic L, Scott MP. Patched1 regulates hedgehog signaling at the primary cilium. Science. 2007; 317: 372-6
PubMed CrossRef
医中誌リンクサービス
42) Kovacs JJ, Whalen EJ, Liu R, et al. Beta-arrestin-mediated localization of smoothened to the primary cilium. Science. 2008; 320: 1777-81
PubMed CrossRef
医中誌リンクサービス
43) Huangfu D, Liu A, Rakeman AS, et al. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature. 2003; 426: 83-7
PubMed CrossRef
医中誌リンクサービス
44) Ferrante MI, Zullo A, Barra A, et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet. 2006; 38: 112-7
PubMed CrossRef
医中誌リンクサービス
45) Wong SY, Seol AD, So PL, et al. Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis. Nat Med. 2009; 15: 1055-61
CrossRef
医中誌リンクサービス
46) Han YG, Kim HJ, Dlugosz AA, et al. Dual and opposing roles of primary cilia in medulloblastoma development. Nat Med. 2009; 15: 1062-5
PubMed CrossRef
医中誌リンクサービス


NPO医学中央雑誌刊行会
https://www.jamas.or.jp/
info@jamas.or.jp