193 related articles for article (PubMed ID: 11359464)
1. The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome.
Yuan ZR; Okaniwa M; Nagata I; Tazawa Y; Ito M; Kawarazaki H; Inomata Y; Okano S; Yoshida T; Kobayashi N; Kohsaka T
Clin Genet; 2001 May; 59(5):330-7. PubMed ID: 11359464
[TBL] [Abstract][Full Text] [Related]
2. Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
Yuan ZR; Kohsaka T; Ikegaya T; Suzuki T; Okano S; Abe J; Kobayashi N; Yamada M
Hum Mol Genet; 1998 Sep; 7(9):1363-9. PubMed ID: 9700188
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP; Bason L; Lu FM; Piccoli DA; Krantz ID; Spinner NB
Hum Mutat; 2001 Feb; 17(2):151-2. PubMed ID: 11180599
[TBL] [Abstract][Full Text] [Related]
4. Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G; Uda M; Macis D; Frau F; Crisponi L; Balli F; Barbera C; Colombo C; Frediani T; Gatti R; Iorio R; Marazzi MG; Marcellini M; Musumeci S; Nebbia G; Vajro P; Ruffa G; Zancan L; Cao A; DeVirgilis S
Hum Mutat; 1999; 14(5):394-400. PubMed ID: 10533065
[TBL] [Abstract][Full Text] [Related]
5. Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.
Yuan ZR; Kobayashi N; Kohsaka T
J Mol Biol; 2006 Feb; 356(3):559-68. PubMed ID: 16403414
[TBL] [Abstract][Full Text] [Related]
6. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID; Colliton RP; Genin A; Rand EB; Li L; Piccoli DA; Spinner NB
Am J Hum Genet; 1998 Jun; 62(6):1361-9. PubMed ID: 9585603
[TBL] [Abstract][Full Text] [Related]
7. Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
Ryan MJ; Bales C; Nelson A; Gonzalez DM; Underkoffler L; Segalov M; Wilson-Rawls J; Cole SE; Moran JL; Russo P; Spinner NB; Kusumi K; Loomes KM
Hepatology; 2008 Dec; 48(6):1989-97. PubMed ID: 19026002
[TBL] [Abstract][Full Text] [Related]
8. [From gene to disease: arteriohepatic dysplasia or Alagille syndrome].
Brooks AS; Dooijes D
Ned Tijdschr Geneeskd; 2003 Jun; 147(25):1213-5. PubMed ID: 12848056
[TBL] [Abstract][Full Text] [Related]
9. The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.
Kohsaka T; Yuan ZR; Guo SX; Tagawa M; Nakamura A; Nakano M; Kawasasaki H; Inomata Y; Tanaka K; Miyauchi J
Hepatology; 2002 Oct; 36(4 Pt 1):904-12. PubMed ID: 12297837
[TBL] [Abstract][Full Text] [Related]
10. Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
Rougemont AL; Alvarez F; McLin VA; Guiochon-Mantel A; Bouligand J; Clément S; Tonson La Tour A; Wildhaber BE; Rubbia-Brandt L; Sartelet H
J Pediatr Gastroenterol Nutr; 2015 Jul; 61(1):91-3. PubMed ID: 25643021
[TBL] [Abstract][Full Text] [Related]
11. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A; Kujat A; Gräber M; Giannakudis J; Hansmann I
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497640
[TBL] [Abstract][Full Text] [Related]
12. Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.
Onouchi Y; Kurahashi H; Tajiri H; Ida S; Okada S; Nakamura Y
J Hum Genet; 1999; 44(4):235-9. PubMed ID: 10429362
[TBL] [Abstract][Full Text] [Related]
13. Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
Giannakudis J; Röpke A; Kujat A; Krajewska-Walasek M; Hughes H; Fryns JP; Bankier A; Amor D; Schlicker M; Hansmann I
Eur J Hum Genet; 2001 Mar; 9(3):209-16. PubMed ID: 11313761
[TBL] [Abstract][Full Text] [Related]
14. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.
McCright B; Lozier J; Gridley T
Development; 2002 Feb; 129(4):1075-82. PubMed ID: 11861489
[TBL] [Abstract][Full Text] [Related]
15. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
McElhinney DB; Krantz ID; Bason L; Piccoli DA; Emerick KM; Spinner NB; Goldmuntz E
Circulation; 2002 Nov; 106(20):2567-74. PubMed ID: 12427653
[TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular genetics of Alagille syndrome.
Krantz ID; Piccoli DA; Spinner NB
Curr Opin Pediatr; 1999 Dec; 11(6):558-64. PubMed ID: 10590916
[TBL] [Abstract][Full Text] [Related]
17. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Guegan K; Stals K; Day M; Turnpenny P; Ellard S
Clin Genet; 2012 Jul; 82(1):33-40. PubMed ID: 21752016
[TBL] [Abstract][Full Text] [Related]
18. DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
Heritage ML; MacMillan JC; Anderson GJ
Hum Mutat; 2002 Dec; 20(6):481. PubMed ID: 12442286
[TBL] [Abstract][Full Text] [Related]
19. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML; MacMillan JC; Colliton RP; Genin A; Spinner NB; Anderson GJ
Hum Mutat; 2000 Nov; 16(5):408-16. PubMed ID: 11058898
[TBL] [Abstract][Full Text] [Related]
20. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
Lu F; Morrissette JJ; Spinner NB
Am J Hum Genet; 2003 Apr; 72(4):1065-70. PubMed ID: 12649809
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]