BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 30217742)

  • 1. Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.
    Tang CS; Li P; Lai FP; Fu AX; Lau ST; So MT; Lui KN; Li Z; Zhuang X; Yu M; Liu X; Ngo ND; Miao X; Zhang X; Yi B; Tang S; Sun X; Zhang F; Liu H; Liu Q; Zhang R; Wang H; Huang L; Dong X; Tou J; Cheah KS; Yang W; Yuan Z; Yip KY; Sham PC; Tam PK; Garcia-Barcelo MM; Ngan ES
    Gastroenterology; 2018 Dec; 155(6):1908-1922.e5. PubMed ID: 30217742
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.
    Lai FP; Lau ST; Wong JK; Gui H; Wang RX; Zhou T; Lai WH; Tse HF; Tam PK; Garcia-Barcelo MM; Ngan ES
    Gastroenterology; 2017 Jul; 153(1):139-153.e8. PubMed ID: 28342760
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
    Sribudiani Y; Chauhan RK; Alves MM; Petrova L; Brosens E; Harrison C; Wabbersen T; de Graaf BM; Rügenbrink T; Burzynski G; Brouwer RWW; van IJcken WFJ; Maas SM; de Klein A; Osinga J; Eggen BJL; Burns AJ; Brooks AS; Shepherd IT; Hofstra RMW
    Gastroenterology; 2018 Jul; 155(1):118-129.e6. PubMed ID: 29601828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
    Liu JA; Lai FP; Gui HS; Sham MH; Tam PK; Garcia-Barcelo MM; Hui CC; Ngan ES
    Gastroenterology; 2015 Dec; 149(7):1837-1848.e5. PubMed ID: 26261006
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development.
    Villalba-Benito L; López-López D; Torroglosa A; Casimiro-Soriguer CS; Luzón-Toro B; Fernández RM; Moya-Jiménez MJ; Antiñolo G; Dopazo J; Borrego S
    Clin Epigenetics; 2021 Mar; 13(1):51. PubMed ID: 33750457
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RET and NRG1 interplay in Hirschsprung disease.
    Gui H; Tang WK; So MT; Proitsi P; Sham PC; Tam PK; Ngan ES; Cherny SS; Garcia-Barceló MM
    Hum Genet; 2013 May; 132(5):591-600. PubMed ID: 23400839
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.
    Schriemer D; Sribudiani Y; IJpma A; Natarajan D; MacKenzie KC; Metzger M; Binder E; Burns AJ; Thapar N; Hofstra RMW; Eggen BJL
    Dev Biol; 2016 Aug; 416(1):255-265. PubMed ID: 27266404
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
    Virtanen VB; Salo PP; Cao J; Löf-Granström A; Milani L; Metspalu A; Rintala RJ; Saarenpää-Heikkilä O; Paunio T; Wester T; Nordenskjöld A; Perola M; Pakarinen MP
    Eur J Med Genet; 2019 Apr; 62(4):229-234. PubMed ID: 30031151
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
    Kuil LE; MacKenzie KC; Tang CS; Windster JD; Le TL; Karim A; de Graaf BM; van der Helm R; van Bever Y; Sloots CEJ; Meeussen C; Tibboel D; de Klein A; Wijnen RMH; Amiel J; Lyonnet S; Garcia-Barcelo MM; Tam PKH; Alves MM; Brooks AS; Hofstra RMW; Brosens E
    PLoS Genet; 2021 Aug; 17(8):e1009698. PubMed ID: 34358225
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes.
    Heanue TA; Pachnis V
    Proc Natl Acad Sci U S A; 2006 May; 103(18):6919-24. PubMed ID: 16632597
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
    Jiang Q; Arnold S; Heanue T; Kilambi KP; Doan B; Kapoor A; Ling AY; Sosa MX; Guy M; Jiang Q; Burzynski G; West K; Bessling S; Griseri P; Amiel J; Fernandez RM; Verheij JB; Hofstra RM; Borrego S; Lyonnet S; Ceccherini I; Gray JJ; Pachnis V; McCallion AS; Chakravarti A
    Am J Hum Genet; 2015 Apr; 96(4):581-96. PubMed ID: 25839327
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.
    Bondurand N; Southard-Smith EM
    Dev Biol; 2016 Sep; 417(2):139-57. PubMed ID: 27370713
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease.
    Fu AX; Lui KN; Tang CS; Ng RK; Lai FP; Lau ST; Li Z; Garcia-Barcelo MM; Sham PC; Tam PK; Ngan ES; Yip KY
    Genome Res; 2020 Nov; 30(11):1618-1632. PubMed ID: 32948616
    [TBL] [Abstract][Full Text] [Related]  

  • 14. What is new about the genetic background of Hirschsprung disease?
    Luzón-Toro B; Villalba-Benito L; Torroglosa A; Fernández RM; Antiñolo G; Borrego S
    Clin Genet; 2020 Jan; 97(1):114-124. PubMed ID: 31355911
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Establishment of an induced pluripotent stem cell model of Hirschsrpung disease, a congenital condition of the enteric nervous system, from a patient carrying a novel RET mutation.
    Wang Y; Lai X; Huang L; Liu G; Zai Z; Zhu D; Zhang Y; Liang Z; Yao Z; Chen Y; Wen Z; Xia H
    Neuroreport; 2018 Aug; 29(12):975-980. PubMed ID: 29965875
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hirschsprung disease is linked to defects in neural crest stem cell function.
    Iwashita T; Kruger GM; Pardal R; Kiel MJ; Morrison SJ
    Science; 2003 Aug; 301(5635):972-6. PubMed ID: 12920301
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.
    Li Z; Lui KN; Lau ST; Lai FP; Li P; Chung PH; Wong KK; Tam PK; Garica-Barcelo MM; Hui CC; Sham PC; Ngan ES
    Nat Commun; 2023 Apr; 14(1):2157. PubMed ID: 37061531
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Activation of Hedgehog Signaling Promotes Development of Mouse and Human Enteric Neural Crest Cells, Based on Single-Cell Transcriptome Analyses.
    Lau ST; Li Z; Pui-Ling Lai F; Nga-Chu Lui K; Li P; Munera JO; Pan G; Mahe MM; Hui CC; Wells JM; Ngan ES
    Gastroenterology; 2019 Dec; 157(6):1556-1571.e5. PubMed ID: 31442438
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.
    Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM
    Hum Mol Genet; 2004 Oct; 13(19):2289-301. PubMed ID: 15294878
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hirschsprung's disease as a model of complex genetic etiology.
    Borrego S; Ruiz-Ferrer M; Fernández RM; Antiñolo G
    Histol Histopathol; 2013 Sep; 28(9):1117-36. PubMed ID: 23605783
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.