BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 30945312)

  • 1. Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
    Ng BG; Lourenço CM; Losfeld ME; Buckingham KJ; Kircher M; Nickerson DA; Shendure J; Bamshad MJ; ; Freeze HH
    J Inherit Metab Dis; 2019 Sep; 42(5):993-997. PubMed ID: 30945312
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
    Losfeld ME; Ng BG; Kircher M; Buckingham KJ; Turner EH; Eroshkin A; Smith JD; Shendure J; Nickerson DA; Bamshad MJ; ; Freeze HH
    Hum Mol Genet; 2014 Mar; 23(6):1602-5. PubMed ID: 24218363
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
    Ng BG; Raymond K; Kircher M; Buckingham KJ; Wood T; Shendure J; Nickerson DA; Bamshad MJ; ; Wong JT; Monteiro FP; Graham BH; Jackson S; Sparkes R; Scheuerle AE; Cathey S; Kok F; Gibson JB; Freeze HH
    Hum Mutat; 2015 Nov; 36(11):1048-51. PubMed ID: 26264460
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
    Castiglioni C; Feillet F; Barnerias C; Wiedemann A; Muchart J; Cortes F; Hernando-Davalillo C; Montero R; Dupré T; Bruneel A; Seta N; Vuillaumier-Barrot S; Serrano M
    Hum Mutat; 2021 Feb; 42(2):142-149. PubMed ID: 33300232
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The Role of TRAPγ/SSR3 in Preproinsulin Translocation Into the Endoplasmic Reticulum.
    Xu X; Huang Y; Li X; Arvan P; Liu M
    Diabetes; 2022 Mar; 71(3):440-452. PubMed ID: 34857543
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dissecting the molecular organization of the translocon-associated protein complex.
    Pfeffer S; Dudek J; Schaffer M; Ng BG; Albert S; Plitzko JM; Baumeister W; Zimmermann R; Freeze HH; Engel BD; Förster F
    Nat Commun; 2017 Feb; 8():14516. PubMed ID: 28218252
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deficient endoplasmic reticulum translocon-associated protein complex limits the biosynthesis of proinsulin and insulin.
    Huang Y; Xu X; Arvan P; Liu M
    FASEB J; 2021 May; 35(5):e21515. PubMed ID: 33811688
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Translocon-associated protein subunit Trap-γ/Ssr3 is required for vascular network formation in the mouse placenta.
    Yamaguchi YL; Tanaka SS; Oshima N; Kiyonari H; Asashima M; Nishinakamura R
    Dev Dyn; 2011 Feb; 240(2):394-403. PubMed ID: 21246656
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation in the Trapalpha/Ssr1 gene, encoding translocon-associated protein alpha, results in outflow tract morphogenetic defects.
    Mesbah K; Camus A; Babinet C; Barra J
    Mol Cell Biol; 2006 Oct; 26(20):7760-71. PubMed ID: 17015483
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
    Polla DL; Edmondson AC; Duvet S; March ME; Sousa AB; Lehman A; ; Niyazov D; van Dijk F; Demirdas S; van Slegtenhorst MA; Kievit AJA; Schulz C; Armstrong L; Bi X; Rader DJ; Izumi K; Zackai EH; de Franco E; Jorge P; Huffels SC; Hommersom M; Ellard S; Lefeber DJ; Santani A; Hand NJ; van Bokhoven H; He M; de Brouwer APM
    Am J Hum Genet; 2021 Jul; 108(7):1342-1349. PubMed ID: 34143952
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Translocon-Associated Protein Complex (TRAP) is Crucial for Co-Translational Translocation of Pre-Proinsulin.
    Kriegler T; Kiburg G; Hessa T
    J Mol Biol; 2020 Dec; 432(24):166694. PubMed ID: 33137310
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Translocon-associated Protein Subunit SSR3 Determines and Predicts Susceptibility to Paclitaxel in Breast Cancer and Glioblastoma.
    Dmello C; Sonabend A; Arrieta VA; Zhang DY; Kanojia D; Chen L; Gould A; Zhang J; Kang SJ; Winter J; Horbinski C; Amidei C; Győrffy B; Cordero A; Chang CL; Castro B; Hsu P; Ahmed AU; Lesniak MS; Stupp R; Sonabend AM
    Clin Cancer Res; 2022 Jul; 28(14):3156-3169. PubMed ID: 35552677
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Simultaneous induction of the four subunits of the TRAP complex by ER stress accelerates ER degradation.
    Nagasawa K; Higashi T; Hosokawa N; Kaufman RJ; Nagata K
    EMBO Rep; 2007 May; 8(5):483-9. PubMed ID: 17380188
    [TBL] [Abstract][Full Text] [Related]  

  • 14. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
    Jones MA; Ng BG; Bhide S; Chin E; Rhodenizer D; He P; Losfeld ME; He M; Raymond K; Berry G; Freeze HH; Hegde MR
    Am J Hum Genet; 2012 Feb; 90(2):363-8. PubMed ID: 22305527
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Overexpression of signal sequence receptor γ predicts poor survival in patients with hepatocellular carcinoma.
    Huang S; Zhong W; Shi Z; Wang K; Jin H; Zhang Z; Wang H; Wei Y; Chen S; Zhou Q; He X
    Hum Pathol; 2018 Nov; 81():47-54. PubMed ID: 29940286
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
    Elsharkawi I; Wongkittichote P; Daniel EJP; Starosta RT; Ueda K; Ng BG; Freeze HH; He M; Shinawi M
    J Inherit Metab Dis; 2023 Jan; 46(1):92-100. PubMed ID: 36214423
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
    de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
    Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
    Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Translocon-associated protein TRAP delta and a novel TRAP-like protein are coordinately expressed with pro-opiomelanocortin in Xenopus intermediate pituitary.
    Holthuis JC; van Riel MC; Martens GJ
    Biochem J; 1995 Nov; 312 ( Pt 1)(Pt 1):205-13. PubMed ID: 7492314
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
    Westenfield K; Sarafoglou K; Speltz LC; Pierpont EI; Steyermark J; Nascene D; Bower M; Pierpont ME
    BMC Med Genet; 2018 Jun; 19(1):100. PubMed ID: 29907092
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.