BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

375 related articles for article (PubMed ID: 16980979)

  • 1. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
    Boyadjiev SA; Fromme JC; Ben J; Chong SS; Nauta C; Hur DJ; Zhang G; Hamamoto S; Schekman R; Ravazzola M; Orci L; Eyaid W
    Nat Genet; 2006 Oct; 38(10):1192-7. PubMed ID: 16980979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.
    Lang MR; Lapierre LA; Frotscher M; Goldenring JR; Knapik EW
    Nat Genet; 2006 Oct; 38(10):1198-203. PubMed ID: 16980978
    [TBL] [Abstract][Full Text] [Related]  

  • 3. First Case of a Dominant De Novo
    Minale EMP; De Falco A; Agolini E; Novelli A; Russo R; Andolfo I; Iolascon A; Piscopo C
    Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275611
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
    Boyadjiev SA; Kim SD; Hata A; Haldeman-Englert C; Zackai EH; Naydenov C; Hamamoto S; Schekman RW; Kim J
    Clin Genet; 2011 Aug; 80(2):169-76. PubMed ID: 21039434
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
    Wang Q; Lin X; Lai K; Liu Y; Qin T; Tan H; Li J; Lin Z; Zhang X; Li X; Lin H; Chen W
    BMC Med Genomics; 2023 Oct; 16(1):241. PubMed ID: 37828500
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum.
    Kim SD; Pahuja KB; Ravazzola M; Yoon J; Boyadjiev SA; Hammamoto S; Schekman R; Orci L; Kim J
    J Biol Chem; 2012 Mar; 287(13):10134-10144. PubMed ID: 22298774
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles.
    Schonthaler HB; Fleisch VC; Biehlmaier O; Makhankov Y; Rinner O; Bahadori R; Geisler R; Schwarz H; Neuhauss SC; Dahm R
    Development; 2008 Jan; 135(2):387-99. PubMed ID: 18077594
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dynamic Glycosylation Governs the Vertebrate COPII Protein Trafficking Pathway.
    Cox NJ; Unlu G; Bisnett BJ; Meister TR; Condon BM; Luo PM; Smith TJ; Hanna M; Chhetri A; Soderblom EJ; Audhya A; Knapik EW; Boyce M
    Biochemistry; 2018 Jan; 57(1):91-107. PubMed ID: 29161034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development.
    Townley AK; Feng Y; Schmidt K; Carter DA; Porter R; Verkade P; Stephens DJ
    J Cell Sci; 2008 Sep; 121(Pt 18):3025-34. PubMed ID: 18713835
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The genetic basis of a craniofacial disease provides insight into COPII coat assembly.
    Fromme JC; Ravazzola M; Hamamoto S; Al-Balwi M; Eyaid W; Boyadjiev SA; Cosson P; Schekman R; Orci L
    Dev Cell; 2007 Nov; 13(5):623-634. PubMed ID: 17981132
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
    Garbes L; Kim K; Rieß A; Hoyer-Kuhn H; Beleggia F; Bevot A; Kim MJ; Huh YH; Kweon HS; Savarirayan R; Amor D; Kakadia PM; Lindig T; Kagan KO; Becker J; Boyadjiev SA; Wollnik B; Semler O; Bohlander SK; Kim J; Netzer C
    Am J Hum Genet; 2015 Mar; 96(3):432-9. PubMed ID: 25683121
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Crystal structure of bet3 reveals a novel mechanism for Golgi localization of tethering factor TRAPP.
    Kim YG; Sohn EJ; Seo J; Lee KJ; Lee HS; Hwang I; Whiteway M; Sacher M; Oh BH
    Nat Struct Mol Biol; 2005 Jan; 12(1):38-45. PubMed ID: 15608655
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
    Cisarova K; Garavelli L; Caraffi SG; Peluso F; Valeri L; Gargano G; Gavioli S; Trimarchi G; Neri A; Campos-Xavier B; Superti-Furga A
    Am J Med Genet A; 2022 Jan; 188(1):319-325. PubMed ID: 34580982
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sec13 safeguards the integrity of the endoplasmic reticulum and organogenesis of the digestive system in zebrafish.
    Niu X; Gao C; Jan Lo L; Luo Y; Meng C; Hong J; Hong W; Peng J
    Dev Biol; 2012 Jul; 367(2):197-207. PubMed ID: 22609279
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic and molecular interactions of the Erv41p-Erv46p complex involved in transport between the endoplasmic reticulum and Golgi complex.
    Welsh LM; Tong AH; Boone C; Jensen ON; Otte S
    J Cell Sci; 2006 Nov; 119(Pt 22):4730-40. PubMed ID: 17077122
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Traffic jams in fish bones: ER-to-Golgi protein transport during zebrafish development.
    Melville DB; Knapik EW
    Cell Adh Migr; 2011; 5(2):114-8. PubMed ID: 21178403
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BBF2H7-mediated Sec23A pathway is required for endoplasmic reticulum-to-Golgi trafficking in dermal fibroblasts to promote collagen synthesis.
    Ishikura-Kinoshita S; Saeki H; Tsuji-Naito K
    J Invest Dermatol; 2012 Aug; 132(8):2010-8. PubMed ID: 22495181
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ULK1 phosphorylates Sec23A and mediates autophagy-induced inhibition of ER-to-Golgi traffic.
    Gan W; Zhang C; Siu KY; Satoh A; Tanner JA; Yu S
    BMC Cell Biol; 2017 May; 18(1):22. PubMed ID: 28486929
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Making COPII coats.
    Kirchhausen T
    Cell; 2007 Jun; 129(7):1251-2. PubMed ID: 17604713
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Crossing the divide--transport between the endoplasmic reticulum and Golgi apparatus in plants.
    Hanton SL; Bortolotti LE; Renna L; Stefano G; Brandizzi F
    Traffic; 2005 Apr; 6(4):267-77. PubMed ID: 15752133
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.