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 *

286 related articles for article (PubMed ID: 25683121)

  • 1. 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]  

  • 2. Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
    Takeyari S; Kubota T; Miyata K; Yamamoto K; Nakayama H; Yamamoto K; Ohata Y; Kitaoka T; Yanagi K; Kaname T; Ozono K
    Am J Med Genet A; 2018 Dec; 176(12):2882-2886. PubMed ID: 30462379
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
    Rauch F; Fahiminiya S; Majewski J; Carrot-Zhang J; Boudko S; Glorieux F; Mort JS; Bächinger HP; Moffatt P
    Am J Hum Genet; 2015 Mar; 96(3):425-31. PubMed ID: 25683117
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    Balasubramanian M; Padidela R; Pollitt RC; Bishop NJ; Mughal MZ; Offiah AC; Wagner BE; McCaughey J; Stephens DJ
    J Med Genet; 2018 Mar; 55(3):158-165. PubMed ID: 29263160
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Osteoporos Int; 2017 Apr; 28(4):1473-1480. PubMed ID: 27942778
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. CRTAP mutation in a patient with Cole-Carpenter syndrome.
    Balasubramanian M; Pollitt RC; Chandler KE; Mughal MZ; Parker MJ; Dalton A; Arundel P; Offiah AC; Bishop NJ
    Am J Med Genet A; 2015 Mar; 167A(3):587-91. PubMed ID: 25604815
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cole-Carpenter syndrome in a patient from Thailand.
    Porntaveetus T; Theerapanon T; Srichomthong C; Shotelersuk V
    Am J Med Genet A; 2018 Aug; 176(8):1706-1710. PubMed ID: 30063094
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
    Cotrina-Vinagre FJ; Rodríguez-García ME; Martín-Hernández E; Durán-Aparicio C; Merino-López A; Medina-Benítez E; Martínez-Azorín F
    Mol Genet Metab; 2021 Jun; 133(2):201-210. PubMed ID: 33707149
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum.
    Lu CL; Ortmeier S; Brudvig J; Moretti T; Cain J; Boyadjiev SA; Weimer JM; Kim J
    Traffic; 2022 Jan; 23(1):81-93. PubMed ID: 34761479
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
    Ouyang L; Yang F
    Medicine (Baltimore); 2017 Dec; 96(52):e9504. PubMed ID: 29384951
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
    van Dijk FS; Semler O; Etich J; Köhler A; Jimenez-Estrada JA; Bravenboer N; Claeys L; Riesebos E; Gegic S; Piersma SR; Jimenez CR; Waisfisz Q; Flores CL; Nevado J; Harsevoort AJ; Janus GJM; Franken AAM; van der Sar AM; Meijers-Heijboer H; Heath KE; Lapunzina P; Nikkels PGJ; Santen GWE; Nüchel J; Plomann M; Wagener R; Rehberg M; Hoyer-Kuhn H; Eekhoff EMW; Pals G; Mörgelin M; Newstead S; Wilson BT; Ruiz-Perez VL; Maugeri A; Netzer C; Zaucke F; Micha D
    Am J Hum Genet; 2020 Nov; 107(5):989-999. PubMed ID: 33053334
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
    Guillemyn B; Kayserili H; Demuynck L; Sips P; De Paepe A; Syx D; Coucke PJ; Malfait F; Symoens S
    Hum Mol Genet; 2019 Jun; 28(11):1801-1809. PubMed ID: 30657919
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis.
    Sarmah S; Barrallo-Gimeno A; Melville DB; Topczewski J; Solnica-Krezel L; Knapik EW
    PLoS One; 2010 Apr; 5(4):e10367. PubMed ID: 20442775
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis.
    Melville DB; Montero-Balaguer M; Levic DS; Bradley K; Smith JR; Hatzopoulos AK; Knapik EW
    Dis Model Mech; 2011 Nov; 4(6):763-76. PubMed ID: 21729877
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case report: Clinical manifestations and genotype analysis of a child with
    Miao Y; Chen J; Guo X; Wei Y; Wu X; Sang Y; Wu D
    Front Pediatr; 2022; 10():973920. PubMed ID: 36186652
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in WNT1 are a cause of osteogenesis imperfecta.
    Fahiminiya S; Majewski J; Mort J; Moffatt P; Glorieux FH; Rauch F
    J Med Genet; 2013 May; 50(5):345-8. PubMed ID: 23434763
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.