| 1 | ALGS, JAG1
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| JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
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| Zhang E, Xu Y, Yu Y, Chen S, Yu Y, Sun K.
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| Mol Med Rep 18(2):2356-2364. doi: 10.3892/mmr.2018.9217. Epub 2018 Jun 25.
2018
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| 2 | ALGS, JAG1
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| Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
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| Andersson ER, Chivukula IV, Hankeova S, Sjöqvist M, Tsoi YL, Ramsköld D, Masek J, Elmansuri A, Hoogendoorn A, Vazquez E, Storvall H, Netušilová J, Huch M, Fischler B, Ellis E, Contreras A, Nemeth A, Chien KC, Clevers H, Sandberg R, Bryja V, Lendahl U.
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| Gastroenterology 154(4):1080-1095. doi: 10.1053/j.gastro.2017.11.002. Epub 2017 Nov 21.
2018
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| 3 | ALGS, JAG1
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| JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
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| de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L.
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| J Clin Endocrinol Metab 101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13.
2016
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| 4 | ALGS, JAG1
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| Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome.
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| Hofmann JJ, Briot A, Enciso J, Zovein AC, Ren S, Zhang ZW, Radtke F, Simons M, Wang Y, Iruela-Arispe ML.
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| Development 139(23):4449-60. doi: 10.1242/dev.084871. Epub 2012 Oct 24.
2012
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| 5 | ALGS, DEL20P12, JAG1
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| SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
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| Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB.
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| Hum Mutat 30(3):371-8.
2009
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| 6 | JAG1, ALGS
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| Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.
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| El-Rassy I, Bou-Abdallah J, Al-Ghadban S, Bitar F, Nemer G.
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| Am J Med Genet A 146(7):937-9. No abstract available. 2008
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| 7 | ALGS, JAG1
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| Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.
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| Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD.
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| Clin Dysmorphol 16(4):241-246. 2007
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| 8 | ALGS, JAG1
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| Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
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| Ponio JB, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M.
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| Hum Mol Genet [Epub ahead of print] 2007
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| 9 | ALGS
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| Alagille syndrome in adult patients: it is never too late.
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| Jacquet A, Guiochon-Mantel A, Noel LH, Sqalli T, Bedossa P, Hadchouel M, Grunfeld JP, Fakhouri F.
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| Am J Kidney Dis 49(5):705-9. 2007
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| 10 | JAG1, ALGS
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| Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.
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| Yuan ZR, Kobayashi N, Kohsaka T.
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| J Mol Biol 356(3):559-68. Epub 2005 Dec 20. 2006
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| 11 | JAG1, ALGS
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| Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.
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| Vrijens K, Thys S, De Jeu MT, Postnov AA, Pfister M, Cox L, Zwijsen A, Van Hoof V, Mueller M, De Clerck NM, De Zeeuw CI, Van Camp G, Van Laer L.
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| Neurobiol Dis 24(1):28-40. Epub 2006 Jul 26. 2006
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| 12 | JAG1, ALGS
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| Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
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| Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M.
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| Hum Genet 116(6):445-53. Epub 2005 Mar 17. 2005
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| 13 | JAG1, ALGS
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| Consequences of JAG1 mutations.
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| Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.
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| J Med Genet 40(12):891-5. 2003
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| 14 | ALGS, JAG1
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| The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome.
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| Yuan Z, Okaniwa M, Nagata I, Tazawa Y, Ito M, Kawarazaki H, Inomata Y, Okano S, Yoshida T, Kobayashi N, Kohsaka T.
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| Clin Genet 59(5):330-337. 2001
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| 15 | ALGS, JAG1
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| Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
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| Giannakudis J, Ropke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M, Hansmann I.
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| Eur J Hum Genet 9(3):209-16. 2001
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| 16 | ALGS, JAG1
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| Jagged1 (JAG1) mutation detection in an australian alagille syndrome population.
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| Heritage ML, MacMillan JC, Colliton RP, Genin A, Spinner NB, Anderson GJ.
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| Hum Mutat 16(5):408-16. 2000
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| 17 | ALGS, JAG1
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| JAGGED1 expression in human embryos : correlation with the Alagille syndrome phenotype.
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| Jones EA, Clement-Jones M, Wilson DI.
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| J Med Genet 37 : 658-662. 2000
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| 18 | ALGS, JAG1
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| The expression of jagged1 in the developing mammalian heart correlates with cardiovascular disease in alagille syndrome.
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| Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ.
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| Hum Mol Genet 8(13):2443-9 1999
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| 19 | ALGS
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| Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.
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| Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA.
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| Hepatology 29(3):822-9. 1999
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| 20 | ALGS, JAG1, TTGT
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| Jagged1 mutations in patients ascertained with isolated congenital heart defects.
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| Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB.
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| Am J Med Genet 84(1):56-60. 1999
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| 21 | ALGS, JAG1
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| Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
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| Krantz ID, et al.
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| Am J Hum Genet 62 : 1361-1369. 1998
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| 22 | ALGS, JAG1
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| Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
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| Yuan ZR, et al.
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| Hum Mol Genet 7 : 1363-1369. 1998
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| 23 | ALGS, JAG1
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| Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
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| Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC.
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| Nat Genet 16(3):235-42. 1997
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| 24 | ALGS, JAG1
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| Alagille syndrome is caused by mutations in human jagged1, which encodes a ligand for Notch1.
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| Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB.
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| Nat Genet 16(3):243-51. 1997
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| 25 | ALGS, BMP2, JAG1, PLCB4, SNAP25
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| Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome.
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| Pollet N, Boccaccio C, Dhorne-Pollet S, Driancourt C, Raynaud N, Auffray C, Hadchouel M, Meunier-Rotival M.
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| Genomics 42(3):489-98. 1997
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| 26 | ALGS
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| Deletions of 20p12 in Alagille syndrome : frequency and molecular characterization.
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| Krantz ID, et al.
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| Am J Med Genet 70 : 80-86. 1997
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| 27 | ALGS
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| Alagille syndrome with interstitial 20p deletion derived from maternal ins (7;20).
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| Li PH, et al.
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| Am J Med Genet 63 : 537-541. 1996
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| 28 | ALGS
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| Alagille syndrome in a family with duplication 20p11.
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| Moog U, et al.
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| Clin Dysmorphol 5 : 279-288. 1996
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| 29 | ALGS
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| Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
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| Rand EB, et al.
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| Am J Hum Genet 57 : 1068-1073. 1995
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| 30 | ALGS
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| Alagille syndrome : family studies.
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| Elmslie FV, et al.
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| J Med Genet 32 : 264-268. 1995
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| 31 | ALGS
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| Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.
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| Hol FA, et al.
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| Hum Genet 95 : 687-690. 1995
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| 32 | ALGS
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| Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.
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| Pollet N, et al.
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| Genomics 27 : 467-474. 1995
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| 33 | ALGS
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| Segregation analysis of Alagille syndrome.
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| Dhorne-Pollet S, et al.
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| J Med Genet 31 : 453-457. 1994
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| 34 | ALGS
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| Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome : cytogenetic and molecular studies.
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| Spinner NB, et al.
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| Am J Hum Genet 55 : 238-243. 1994
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| 35 | ALGS
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| Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection : study of three candidate genes.
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| Deleuze JF, et al.
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| Mamm Genome 5 : 663-669. 1994
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| 36 | ALGS
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| Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients.
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| Deleuze JF, et al.
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| Eur J Hum Genet 2 : 185-190. 1994
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| 37 | ALGS
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| Alagille syndrome with de novo del(20) (p11.2).
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| Teebi AS, et al.
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| Am J Med Genet 42 : 35-38. 1992
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| 38 | ALGS
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| Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
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| Desmaze C, et al.
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| J Med Genet 29 : 233-235. 1992
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| 39 | ALGS
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| Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome).
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| Zhang F, et al.
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| J Pediatr 116 : 73-77. 1990
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| 40 | ALGS
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| Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2).
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| Legius E, et al.
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| Am J Med Genet 35 : 532-535. 1990
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| 41 | ALGS
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| Alagille syndrome and deletion of 20p.
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| Anad F, et al.
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| J Med Genet 27 : 729-737. 1990
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| 42 | ALGS
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| A case of Alagille's syndrome with translocation (4;14) (q21;q21).
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| Mujica P, et al.
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| Ann Genet 32 : 117-119. 1989
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| 43 | ALGS
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| Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).
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| Schnittger S, et al.
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| Hum Genet 83 : 239-244. 1989
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| 44 | ALGS
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| del(20p) with manifestations of arteriohepatic dysplasia.
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| Byrne JLB, et al.
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| Am J Med Genet 24 : 673-678. 1986
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