BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 29956768)

  • 1. JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
    Zhang E; Xu Y; Yu Y; Chen S; Yu Y; Sun K
    Mol Med Rep; 2018 Aug; 18(2):2356-2364. PubMed ID: 29956768
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
    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
    Gastroenterology; 2018 Mar; 154(4):1080-1095. PubMed ID: 29162437
    [TBL] [Abstract][Full Text] [Related]  

  • 3. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
    Li L; Dong J; Wang X; Guo H; Wang H; Zhao J; Qiu Y; Abuduxikuer K; Wang J
    PLoS One; 2015; 10(6):e0130355. PubMed ID: 26076142
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
    Tada M; Itoh S; Ishii-Watabe A; Suzuki T; Kawasaki N
    FEBS J; 2012 Jun; 279(12):2096-107. PubMed ID: 22487239
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
    Lin HC; Le Hoang P; Hutchinson A; Chao G; Gerfen J; Loomes KM; Krantz I; Kamath BM; Spinner NB
    Am J Med Genet A; 2012 May; 158A(5):1005-13. PubMed ID: 22488849
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
    Cho JM; Oh SH; Kim HJ; Kim JS; Kim KM; Kim GH; Yu E; Lee BH; Yoo HW
    Pediatr Int; 2015 Aug; 57(4):552-7. PubMed ID: 25676721
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
    Jurkiewicz D; Gliwicz D; Ciara E; Gerfen J; Pelc M; Piekutowska-Abramczuk D; Kugaudo M; Chrzanowska K; Spinner NB; Krajewska-Walasek M
    J Appl Genet; 2014 Aug; 55(3):329-36. PubMed ID: 24748328
    [TBL] [Abstract][Full Text] [Related]  

  • 10. NOTCH2 mutations in Alagille syndrome.
    Kamath BM; Bauer RC; Loomes KM; Chao G; Gerfen J; Hutchinson A; Hardikar W; Hirschfield G; Jara P; Krantz ID; Lapunzina P; Leonard L; Ling S; Ng VL; Hoang PL; Piccoli DA; Spinner NB
    J Med Genet; 2012 Feb; 49(2):138-44. PubMed ID: 22209762
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins.
    Zhang Y; Xiang B; Yu X
    Med Clin (Barc); 2020 Dec; 155(11):507-509. PubMed ID: 31522744
    [No Abstract]   [Full Text] [Related]  

  • 14. [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]  

  • 15. [Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].
    Gao ML; Zhong XM; Ma X; Ning HJ; Zhu D; Zou JZ
    Zhonghua Er Ke Za Zhi; 2016 Jun; 54(6):441-5. PubMed ID: 27256232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
    Gilbert MA; Bauer RC; Rajagopalan R; Grochowski CM; Chao G; McEldrew D; Nassur JA; Rand EB; Krock BL; Kamath BM; Krantz ID; Piccoli DA; Loomes KM; Spinner NB
    Hum Mutat; 2019 Dec; 40(12):2197-2220. PubMed ID: 31343788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.