Exome Sequencing Reveals A Novel Snp In Uchl1 In Pulmonary Arterial Hypertension

被引:0
|
作者
Gupta, A. [1 ]
Lynn, H. D. [1 ]
Nair, V. [1 ]
Gupta, G. [1 ]
Cordery, A. [1 ]
Patel, K. [1 ]
Kadakia, A. [1 ]
Knox, K. S. [1 ]
Larsen, B. T. [2 ]
Duarte, J. [3 ]
Rischard, F. [1 ]
Garcia, J. G. N. [1 ]
Yuan, J. X. [1 ]
Desai, A. A. [1 ]
机构
[1] Univ Arizona, Tucson, AZ USA
[2] Mayo Clin, Phoenix, AZ USA
[3] Univ Florida, Gainesville, FL USA
关键词
D O I
暂无
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
A4259
引用
收藏
页数:1
相关论文
共 50 条
  • [21] Genetic Insights into Pulmonary Arterial Hypertension Application of Whole-Exome Sequencing to the Study of Pathogenic Mechanisms
    Tang, Haiyang
    Desai, Ankit A.
    Yuan, Jason X. -J.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 194 (04) : 393 - 397
  • [22] Long-term inhibition of UCHL1 decreases hypertension and retinopathy in spontaneously hypertensive rats
    Liu, Shasha
    Wang, Chengfang
    Lu, Jianmin
    Dai, Guangzheng
    Che, Huixin
    He, Wei
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2021, 49 (06)
  • [23] Crystal Structure and kinetic studies of UCHL1R178Q reveals the increase in UCHL1 activity in early-onset neurodegeneration
    Kenny, Sebastian
    Brown, Kwame
    Krabill, Aaron
    Hewitt, Chad
    Flaherty, Daniel
    Das, Chittaranjan
    PROTEIN SCIENCE, 2021, 30 : 154 - 154
  • [24] Whole Exome Sequencing Identifies Carboxylesterase 1 As Aa Novel Candidate Gene In Patients With Methamphetamine Induced Pulmonary Hypertension
    Zamanian, R. T.
    Khurshudyan, A.
    Dewey, F.
    Orcholski, M.
    Ashley, E.
    Perez, V. de Jesus
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 187
  • [25] Atp8b4: Exome Sequencing And Altered Expression In Scleroderma Complicated With Pulmonary Arterial Hypertension
    Gao, L.
    Emond, M. J.
    Louie, T.
    Cheadle, C.
    Berger, A. E.
    Rafaels, N.
    Kim, Y.
    Rich, S. S.
    Rieder, M. J.
    Nickerson, D. A.
    Hummers, L. K.
    Bamshad, M. J.
    Hassoun, P. M.
    Mathias, R. A.
    Barnes, K. C.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 187
  • [26] Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis
    Khurana, Harshit
    Muthusamy, Babylakshmi
    Yanamandra, Uday
    Garapati, Kishore
    Premdeep, Harikrishnan
    Subramanian, Shankar
    Pandey, Akhilesh
    OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY, 2023, 27 (07) : 299 - 304
  • [27] Exome sequencing reveals the novel genetic mutations associated with teratospermia
    Long, S.
    HUMAN REPRODUCTION, 2024, 39
  • [28] Exome sequencing of an Arabian set reveals diverse novel variants
    Alkhateeb, A. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 1007 - 1007
  • [29] Exome RNA sequencing reveals rare and novel alternative transcripts
    Halvardson, Jonatan
    Zaghlool, Ammar
    Feuk, Lars
    NUCLEIC ACIDS RESEARCH, 2013, 41 (01)
  • [30] A novel proteomic signature of osteoclast differentiation unveils the deubiquitinase UCHL1 as a necessary osteoclastogenic driver
    Materozzi, Maria
    Resnati, Massimo
    Facchi, Cecilia
    Trudu, Matteo
    Orfanelli, Ugo
    Perini, Tommaso
    Gennari, Luigi
    Milan, Enrico
    Cenci, Simone
    SCIENTIFIC REPORTS, 2024, 14 (01)