These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 31777725)

  • 1. A Novel
    Lee MJ; Suh CR; Shin JH; Lee JH; Lee Y; Eun BL; Yoo KH; Shim JO
    Pediatr Gastroenterol Hepatol Nutr; 2019 Nov; 22(6):581-587. PubMed ID: 31777725
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
    Smith H; Galmes R; Gogolina E; Straatman-Iwanowska A; Reay K; Banushi B; Bruce CK; Cullinane AR; Romero R; Chang R; Ackermann O; Baumann C; Cangul H; Cakmak Celik F; Aygun C; Coward R; Dionisi-Vici C; Sibbles B; Inward C; Kim CA; Klumperman J; Knisely AS; Watson SP; Gissen P
    Hum Mutat; 2012 Dec; 33(12):1656-64. PubMed ID: 22753090
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
    Seo SH; Hwang SM; Ko JM; Ko JS; Hyun YJ; Cho SI; Park H; Kim SY; Seong MW; Park SS
    Clin Genet; 2015 Jul; 88(1):80-4. PubMed ID: 24917129
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Mutation of
    Agakidou E; Agakidis C; Kambouris M; Printza N; Farini M; Vourda E; Gerou S; Sarafidis K
    Case Rep Genet; 2020; 2020():8872294. PubMed ID: 33029437
    [TBL] [Abstract][Full Text] [Related]  

  • 5. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
    Yu L; Li D; Zhang T; Xiao Y; Wang Y; Ge T
    BMC Nephrol; 2022 Jun; 23(1):228. PubMed ID: 35761207
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
    Cullinane AR; Straatman-Iwanowska A; Zaucker A; Wakabayashi Y; Bruce CK; Luo G; Rahman F; Gürakan F; Utine E; Ozkan TB; Denecke J; Vukovic J; Di Rocco M; Mandel H; Cangul H; Matthews RP; Thomas SG; Rappoport JZ; Arias IM; Wolburg H; Knisely AS; Kelly DA; Müller F; Maher ER; Gissen P
    Nat Genet; 2010 Apr; 42(4):303-12. PubMed ID: 20190753
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions.
    Duong MD; Rose CM; Reidy KJ; Del Rio M
    Pediatr Nephrol; 2020 Feb; 35(2):247-248. PubMed ID: 31463585
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.
    Rosales A; Mhibik M; Gissen P; Segarra O; Redecillas S; Ariceta G
    BMC Nephrol; 2018 Jun; 19(1):144. PubMed ID: 29907094
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
    Wang JS; Zhao J; Li LT
    World J Gastroenterol; 2014 Apr; 20(16):4830-4. PubMed ID: 24782640
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel mutations in the
    Yang H; Lin SZ; Guan SH; Wang WQ; Li JY; Yang GD; Zhang SL
    World J Clin Cases; 2022 Oct; 10(30):11016-11022. PubMed ID: 36338198
    [TBL] [Abstract][Full Text] [Related]  

  • 11. VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
    Rogerson C; Gissen P
    Biochim Biophys Acta Mol Basis Dis; 2018 May; 1864(5 Pt A):1609-1621. PubMed ID: 29409756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
    Hershkovitz D; Mandel H; Ishida-Yamamoto A; Chefetz I; Hino B; Luder A; Indelman M; Bergman R; Sprecher E
    Arch Dermatol; 2008 Mar; 144(3):334-40. PubMed ID: 18347289
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
    Li LT; Zhao J; Chen R; Wang JS
    World J Gastroenterol; 2014 Jan; 20(1):326-9. PubMed ID: 24415890
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
    Jang JY; Kim KM; Kim GH; Yu E; Lee JJ; Park YS; Yoo HW
    J Pediatr Gastroenterol Nutr; 2009 Mar; 48(3):348-54. PubMed ID: 19274792
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel
    Linhares ND; Fagundes EDT; Ferreira AR; Queiroz TCN; da Silva LR; Pena SDJ
    Front Genet; 2022; 13():796759. PubMed ID: 35281816
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
    Cullinane AR; Straatman-Iwanowska A; Seo JK; Ko JS; Song KS; Gizewska M; Gruszfeld D; Gliwicz D; Tuysuz B; Erdemir G; Sougrat R; Wakabayashi Y; Hinds R; Barnicoat A; Mandel H; Chitayat D; Fischler B; Garcia-Cazorla A; Knisely AS; Kelly DA; Maher ER; Gissen P
    Hum Mutat; 2009 Feb; 30(2):E330-7. PubMed ID: 18853461
    [TBL] [Abstract][Full Text] [Related]  

  • 17. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
    Bull LN; Mahmoodi V; Baker AJ; Jones R; Strautnieks SS; Thompson RJ; Knisely AS
    J Pediatr; 2006 Feb; 148(2):269-71. PubMed ID: 16492441
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Vps33b is crucial for structural and functional hepatocyte polarity.
    Hanley J; Dhar DK; Mazzacuva F; Fiadeiro R; Burden JJ; Lyne AM; Smith H; Straatman-Iwanowska A; Banushi B; Virasami A; Mills K; Lemaigre FP; Knisely AS; Howe S; Sebire N; Waddington SN; Paulusma CC; Clayton P; Gissen P
    J Hepatol; 2017 May; 66(5):1001-1011. PubMed ID: 28082148
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
    Qiu YL; Liu T; Abuduxikuer K; Hao CZ; Gong JY; Zhang MH; Li LT; Yan YY; Li JQ; Wang JS
    Hum Mutat; 2019 Dec; 40(12):2247-2257. PubMed ID: 31479177
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.
    Holme A; Hurcombe JA; Straatman-Iwanowska A; Inward CI; Gissen P; Coward RJ
    Clin Kidney J; 2013 Apr; 6(2):183-8. PubMed ID: 26019847
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.