Whole exome sequencing of Chagas disease cardiomyopathy families reveals accumulation of rare variants in mitochondrial and inflammation-associated genes

被引:0
|
作者
Cunha-Neto, E. [1 ]
Marquet, S. [2 ]
Farage Frade, A. [1 ]
Mota Ferreira, A. [3 ]
Ouarhache, M. [4 ]
Ianni, B. [5 ]
Rodrigues Pinto Ferreira, L. [6 ]
Oliveira-Carvalho Rigaud, V. [6 ]
Ribeiro Almeida, R. [1 ]
Candido, D. [6 ]
Torres, M. [7 ]
Gallardo, F. [8 ]
Fernandes, R. [6 ]
Mady, C. [5 ]
Buck, P. [5 ]
Cardoso, C. [9 ]
Santos-Junior, O. R. [10 ]
Oliveira, L. C. [11 ]
Oliveira, C. D. L. [12 ]
do Carmo Nunes, M. [10 ]
Abel, L. [13 ]
Kalil, J. [6 ]
Ribeiro, A. L. P. [14 ]
Sabino, E. C. [15 ,16 ]
Chevillard, C. [17 ]
机构
[1] Univ Sao Paulo, Div Clin Immunol & Allergy, Heart Inst InCor, Sao Paulo, Brazil
[2] Aix Marseille Univ, Labex ParaFrap, INSERM, GIMP,UMR906, Marseille, France
[3] Univ Estadual Montes Claros, Hlth Sci Programme, Montes Claros, Brazil
[4] Aix Marseille Univ, URMITE, IHU Mediterranee Infect, UM63,CNRS 7278,IRD 198,INSERM 1095, Marseille, France
[5] Univ Sao Paulo, Sch Med, Heart Inst InCor, Myocardiopathies Unit, Sao Paulo, Brazil
[6] Univ Sao Paulo, Inst Invest Immunol, Inst Nacl Ciencia & Tecnol, Lab Immunol,Heart Inst InCor,Div Clin Immunol &, Sao Paulo, Brazil
[7] Aix Marseille Univ, INSERM, UMR 1090, Marseille, France
[8] Aix Marseille Univ, INSERM, TAGC UMR S1090, Marseille, France
[9] Univ Fed Sao Joao del Rei, Sch Med, Divinopolis, Brazil
[10] Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil
[11] Univ Sao Paulo, Sch Med, Gen Hosp, Lab Med Laboratorial LIM03, Sao Paulo, Brazil
[12] Univ Fed Sao Joao del Rei, Sch Med, Divinopolis, Brazil
[13] Paris Descartes Univ, Sorbonne Paris Cite, Lab Human Genet Infect Dis, Necker Branch,INSERM,U1163, Paris, France
[14] Univ Fed Minas Gerais, Dept Internal Med, Belo Horizonte, MG, Brazil
[15] Univ Sao Paulo, Sch Med, Dept Infect Dis, Sao Paulo, Brazil
[16] Univ Sao Paulo, Inst Trop Med, Sao Paulo, Brazil
[17] Aix Marseille Univ, INSERM, GIMP UMR S906, Marseille, France
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
O092
引用
收藏
页码:1171 / 1172
页数:2
相关论文
共 50 条
  • [31] Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease
    Terhune, Elizabeth A.
    Wethey, Cambria, I
    Cuevas, Melissa T.
    Monley, Anna M.
    Baschal, Erin E.
    Bland, Morgan R.
    Baschal, Robin
    Trahan, G. Devon
    Taylor, Matthew R. G.
    Jones, Kenneth L.
    Miller, Nancy Hadley
    GENES, 2021, 12 (06)
  • [32] Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar
    Fahiminiya, S.
    Almuriekhi, M.
    Nawaz, Z.
    Staffa, A.
    Lepage, P.
    Ali, R.
    Hashim, L.
    Schwartzentruber, J.
    Abu Khadija, K.
    Zaineddin, S.
    Gamal, H.
    Majewski, J.
    Ben-Omran, T.
    CLINICAL GENETICS, 2014, 86 (02) : 134 - 141
  • [33] Using Whole Exome Sequencing to Identify Rare Causal Variants for Oral Clefts in Multiplex Families with a Focus on Syrian Families
    Bailey-Wilson, Joan E.
    Parker, Margaret M.
    Szymczak, Silke
    Li, Qing
    Cropp, Cheryl D.
    Nothen, Markus M.
    Hetmanski, Jacqueline B.
    Ling, Hua
    Pugh, Elizabeth W.
    Duggal, Priya
    Taub, Margaret A.
    Ruczinski, Ingo
    Scott, Alan F.
    Marazita, Mary L.
    Murray, Jeffrey C.
    Mangold, Elisabeth
    Beaty, Terri H.
    GENETIC EPIDEMIOLOGY, 2012, 36 (07) : 738 - 739
  • [34] WHOLE EXOME SEQUENCING IN FAMILIES WITH SE-RIOUS MENTAL ILLNESSES IDENTIFIES POTENTIALLY DELETERIOUS RARE VARIANTS IN GENES IMPLICATED IN NEURODEVELOPMENT
    Jain, Sanjeev
    Ganesh, Suhas
    Bhattacharjee, Samsiddhi
    Vemula, Alekhya
    Nadella, Ravikumar
    Ithal, Dhruva
    Mathew, Kezia
    Viswanath, Biju
    Purushottam, Meera
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2021, 51 : E140 - E140
  • [35] WHOLE EXOME SEQUENCING OF MULTIPLEX BIPOLAR DISORDER FAMILIES AND FOLLOW-UP RESEQUENCING IMPLICATE RARE VARIANTS IN CELL ADHESION GENES CONTRIBUTING TO DISEASE ETIOLOGY
    Maaser, Anna
    Streit, Fabian
    Ludwig, Kerstin U.
    Koller, Anna C.
    Degenhardt, Franziska
    Thiele, Holger
    Parra, Jose Guzman
    Rivas, Fabio
    Mayoral, Fermin
    Herms, Stefan
    Hoffmann, Per
    Cichon, Sven
    Rietschel, Marcella
    Noethen, Markus M.
    Forstner, Andreas J.
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : 1088 - 1089
  • [36] Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
    Asif, Maria
    Anayat, Maryam
    Tariq, Faiza
    Noureen, Tanzeela
    Din, Ghulam Naseer Ud
    Becker, Christian
    Becker, Kerstin
    Thiele, Holger
    Makhdoom, Ehtisham ul Haq
    Shaiq, Pakeeza Arzoo
    Baig, Shahid M.
    Nuernberg, Peter
    Hussain, Muhammad Sajid
    Raja, Ghazala Kaukab
    Abdullah, Uzma
    GENES, 2023, 14 (01)
  • [37] Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number
    Pillalamarri, Vamsee
    Shi, Wen
    Say, Conrad
    Yang, Stephanie
    Lane, John
    Guallar, Eliseo
    Pankratz, Nathan
    Arking, Dan E.
    HUMAN GENETICS AND GENOMICS ADVANCES, 2023, 4 (01):
  • [38] Whole-exome sequencing study reveals common copy number variants in protocadherin genes associated with childhood obesity in Koreans
    S Moon
    M Y Hwang
    H B Jang
    S Han
    Y J Kim
    J-Y Hwang
    H-J Lee
    S I Park
    J Song
    B-J Kim
    International Journal of Obesity, 2017, 41 : 660 - 663
  • [39] Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population
    Wang, Qiuji
    Zhao, Junfei
    Huang, Huanlei
    GENES & GENOMICS, 2025,
  • [40] Whole-exome sequencing study reveals common copy number variants in protocadherin genes associated with childhood obesity in Koreans
    Moon, S.
    Hwang, M. Y.
    Jang, H. B.
    Han, S.
    Kim, Y. J.
    Hwang, J-Y
    Lee, H-J
    Park, S. I.
    Song, J.
    Kim, B-J
    INTERNATIONAL JOURNAL OF OBESITY, 2017, 41 (04) : 660 - 663