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 *

175 related articles for article (PubMed ID: 37864304)

  • 1. A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.
    Ishii S; Fujiwara T; Yagi H; Takeda N; Ando M; Yamauchi H; Inuzuka R; Taniguchi Y; Hatano M; Komuro I
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2257. PubMed ID: 37864304
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.
    Baskin SM; Morris SA; Vara A; Hecht JT; Farach LS
    Am J Med Genet A; 2020 Nov; 182(11):2755-2760. PubMed ID: 32935439
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
    Laterza D; Ritelli M; Zini A; Colombi M; Dell'Acqua ML; Vandelli L; Bigliardi G; Verganti L; Vallone S; Vincenzi C; Rosafio F; Ciolli L; Calabrese O; Nichelli PF; Picchetto L
    Eur J Med Genet; 2019 Oct; 62(10):103727. PubMed ID: 31326520
    [TBL] [Abstract][Full Text] [Related]  

  • 4. hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by
    Zhou D; Feng H; Yang Y; Huang T; Qiu P; Zhang C; Olsen TR; Zhang J; Chen YE; Mizrak D; Yang B
    Circulation; 2021 Oct; 144(14):1145-1159. PubMed ID: 34346740
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional validation reveals the novel missense V419L variant in
    Cousin MA; Zimmermann MT; Mathison AJ; Blackburn PR; Boczek NJ; Oliver GR; Lomberk GA; Urrutia RA; Deyle DR; Klee EW
    Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679693
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
    Gallo EM; Loch DC; Habashi JP; Calderon JF; Chen Y; Bedja D; van Erp C; Gerber EE; Parker SJ; Sauls K; Judge DP; Cooke SK; Lindsay ME; Rouf R; Myers L; ap Rhys CM; Kent KC; Norris RA; Huso DL; Dietz HC
    J Clin Invest; 2014 Jan; 124(1):448-60. PubMed ID: 24355923
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
    Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G
    Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
    Camerota L; Ritelli M; Wischmeijer A; Majore S; Cinquina V; Fortugno P; Monetta R; Gigante L; Marfan Syndrome Study Group Tor Vergata University Hospital ; Sangiuolo FC; Novelli G; Colombi M; Brancati F
    Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31569402
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection.
    Engström K; Vánky F; Rehnberg M; Trinks C; Jonasson J; Green A; Gunnarsson C
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1089. PubMed ID: 32022471
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
    Schepers D; Tortora G; Morisaki H; MacCarrick G; Lindsay M; Liang D; Mehta SG; Hague J; Verhagen J; van de Laar I; Wessels M; Detisch Y; van Haelst M; Baas A; Lichtenbelt K; Braun K; van der Linde D; Roos-Hesselink J; McGillivray G; Meester J; Maystadt I; Coucke P; El-Khoury E; Parkash S; Diness B; Risom L; Scurr I; Hilhorst-Hofstee Y; Morisaki T; Richer J; Désir J; Kempers M; Rideout AL; Horne G; Bennett C; Rahikkala E; Vandeweyer G; Alaerts M; Verstraeten A; Dietz H; Van Laer L; Loeys B
    Hum Mutat; 2018 May; 39(5):621-634. PubMed ID: 29392890
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.
    Wheeler JB; Ikonomidis JS; Jones JA
    Adv Exp Med Biol; 2021; 1348():161-184. PubMed ID: 34807419
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
    Ritelli M; Chiarelli N; Dordoni C; Quinzani S; Venturini M; Maroldi R; Calzavara-Pinton P; Colombi M
    BMC Med Genet; 2014 Aug; 15():91. PubMed ID: 25163805
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
    Haller G; Alvarado DM; Willing MC; Braverman AC; Bridwell KH; Kelly M; Lenke LG; Luhmann SJ; Gurnett CA; Dobbs MB
    J Bone Joint Surg Am; 2015 Sep; 97(17):1411-7. PubMed ID: 26333736
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
    Verstraeten A; Alaerts M; Van Laer L; Loeys B
    Hum Mutat; 2016 Jun; 37(6):524-31. PubMed ID: 26919284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic Observations of a Rare/Pathogenic
    Richter JE; Samreen A; Vadlamudi C; Helmi H; Mohammad AN; Wierenga K; Hines S; Atwal PS; Caulfield TR
    Medicina (Kaunas); 2019 May; 55(5):. PubMed ID: 31096651
    [No Abstract]   [Full Text] [Related]  

  • 16. Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
    Yang H; Ma Y; Luo M; Zhu G; Zhang Y; Li B; Shu C; Zhou Z
    Orphanet J Rare Dis; 2020 Jan; 15(1):6. PubMed ID: 31915033
    [TBL] [Abstract][Full Text] [Related]  

  • 17. TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
    Takeda N; Hara H; Fujiwara T; Kanaya T; Maemura S; Komuro I
    Int J Mol Sci; 2018 Jul; 19(7):. PubMed ID: 30037098
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.
    Dewan AK; Tomlinson RE; Mitchell S; Goh BC; Yung RM; Kumar S; Tan EW; Faugere MC; Dietz HC; Clemens TL; Sponseller PD
    J Orthop Res; 2015 Oct; 33(10):1447-54. PubMed ID: 26173585
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.
    Wheeler JB; Ikonomidis JS; Jones JA
    Adv Exp Med Biol; 2014; 802():107-27. PubMed ID: 24443024
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of
    Hara H; Takeda N; Fujiwara T; Yagi H; Maemura S; Kanaya T; Nawata K; Morita H; Komuro I
    Hum Genome Var; 2019; 6():6. PubMed ID: 30701076
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.