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  • Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR. 2008. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Am J Med Genet 146A:29292936.
  • Al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. 1999 Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. J Med Genet 36:461466.
  • Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L. 2011. Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. PLoS One 6:e26206.
  • Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B. 2010. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. Hum Mol Genet 19:22392250.
  • Aridor M. 2007. Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases. Adv Drug Deliv Rev 59:759781.
  • Arrate MP, Rodriguez JM, Tran TT, Brock TA, Cunningham SA. 2001. Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. J Biol Chem 276:4582645832.
  • Balda MS, Matter K. 2008. Tight junctions at a glance. J Cell Sci 121:36773682.
  • Bazzoni G, Martinez-Estrada OM, Orsenigo F, Cordenonsi M, Citi S, Dejana E. 2000. Interaction of junctional adhesion molecule with the tight junction components ZO-1, cingulin, and occludin. J Biol Chem 275:2052020526.
  • Betanzos A, Schnoor M, Severson EA, Liang TW, Parkos CA. 2009. Evidence for cross-reactivity of JAM-C antibodies: implications for cellular localization studies. Biol Cell 101:441453.
  • Bradfield PF, Nourshargh S, Aurrand-Lions M, Imhof BA. 2007 JAM family and related proteins in leukocyte migration (Vestweber series). Arterioscler Thromb Vasc Biol 27:21042112.
  • Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM. 2003. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 73:11201130.
  • Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G. 2003. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet 34:9196.
  • Cereijido M, Contreras RG, Shoshani L, Flores-Benitez D, Larre I. 2008. Tight junction and polarity interaction in the transporting epithelial phenotype. Biochim Biophys Acta 1778:770793.
  • Chen Y, Bellamy WP, Seabra MC, Field MC, Ali BR. 2005. ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. Hum Mol Genet 4:25592569.
  • Colom B, Poitelon Y, Huang W, Woodfin A, Averill S, Del Carro U, Zambroni D, Brain SD, Perretti M, Ahluwalia A, Priestley JV, Chavakis T, et al. 2012. Schwann cell-specific JAM-C-deficient mice reveal novel expression and functions for JAM-C in peripheral nerves. FASEB J 26:10641076.
  • Daniele LL, Adams RH, Durante DE, Pugh EN Jr, Philp NJ. 2007. Novel distribution of junctional adhesion molecule-C in the neural retina and retinal pigment epithelium. J Comp Neurol 505:166176.
  • de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G. 2009. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymalhemorrhage. Ann Neurol 65:1218.
  • Ebnet K. 2008. Organization of multiprotein complexes at cell–cell junctions. Histochem Cell Biol 130:120.
  • Ebnet K, Suzuki A, Ohno S, Vestweber D. 2004. Junctional adhesion molecules (JAMs): more molecules with dual functions? J Cell Sci 117:1929.
  • Fowler M, Dow R, White TA, Greer CH. 1972. Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease. Dev Med Child Neurol 14:17388.
  • Fukuda Y, Aguilar-Bryan L, Vaxillaire M, Dechaume A, Wang Y, Dean M, Moitra K, Bryan J, Schuetz JD. 2011. Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8. J Biol Chem 286:848192.
  • Gliki G, Ebnet K, Aurrand-Lions M, Imhof BA, Adams RH. 2004. Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C. Nature 431:320324.
  • Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. 2006. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:14891496.
  • Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, et al. 2006. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949957.
  • Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. 2010. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat 31:918923.
  • Matter K, Balda MS. 2007. Tight junctions, gene expression and nucleo-junctinal interplay. J Cell Sci 120:15051511.
  • Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani, et al. 2010. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet 86:471478.
  • Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, et al. 2010. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 87:882889.
  • O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, et al. 2010. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 87:354364.
  • Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, et al. 2007. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 357:26872695.
  • Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM. 2006. Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 79:10401051.
  • Rudarakanchana N, Flanagan JA, Chen H, Upton PD, Machado R, Patel D, Trembath RC, Morrell NW. 2002. Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Hum Mol Genet 11:15171525.
  • Santoso S, Sachs UJH, Kroll H, Linder M, Ruf A, Preissner KT, Chavakis T. 2002. The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1. J Exp Med 196:679691.
  • Scheiermann C, Meda P, Aurrand-Lions M, Madani R, Yiangou Y, Coffey P, Salt TE, Ducrest-Gay D, Caille D, Howell O, Reynolds R, Lobrinus A, et al. 2007. Expression and function of junctional adhesion molecule-C in myelinated peripheral nerves. Science 318:14721475.
  • Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, et al. 2007. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 62:177184.
  • Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, et al. 1999. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285:103106.
  • Steed E, Balda MS, Matter K. 2010. Dynamics and functions of tight junctions. Trends Cell Biol 20:142149.
  • Stelzer S, Worlitzer MM, Bahnassawy L, Hemmer K, Rugani K, Werthschulte I, Schön AL, Brinkmann BF, Bunk EC, Palm T, Ebnet K, Schwamborn JC. 2012. JAM-C is an apical surface marker for neural stem cells. Stem Cells Dev 21:75766.
  • Teichmann SA, Chothia C. 2000. Immunoglobulin superfamily proteins in Caenorhabditis elegans. J Mol Biol 296:13671383.
  • Terry S, Nie M, Matter K, Balda MS. 2010. Rho signaling and tight junction functions. Physiology (Bethesda) 25:1626.
  • Weber C, Fraemohs L, Dejana E. 2007. The role of junctional adhesion molecules in vascular inflammation. Nat Rev Immunol 7:467477.
  • Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ. 2001. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 104:165172.
  • Wyss L, Schäfer J, Liebner S, Mittelbronn M, Deutsch U, Enzmann G, Adams RH, Aurrand-Lions M, Plate KH, Imhof BA, Engelhardt B. 2012. Junctional adhesion molecule (JAM)-C deficient C57BL/6 mice develop a severe hydrocephalus. PLoS One 7:e45619.