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
  • [41] Whole exome sequencing reveals novel candidate gene variants for MODY
    Capan, Ozlem Yalcin
    Aydin, Neslihan
    Yilmaz, Temel
    Berber, Ergul
    CLINICA CHIMICA ACTA, 2020, 510 : 97 - 104
  • [42] Exome Sequencing in Familial Paroxysmal Kinesigenic Dyskinesia Reveals Novel Candidates
    Miura, Shiroh
    Shimojo, Tomofumi
    Kamada, Takashi
    Shibata, Hiroki
    ANNALS OF NEUROLOGY, 2019, 86 : S103 - S104
  • [43] Exome sequencing reveals novel IRXI mutation in congenital heart disease
    Guo, Changlong
    Wang, Qidi
    Wang, Yuting
    Yang, Liping
    Luo, Haiyan
    Cao, Xiao Fang
    An, Lisha
    Qiu, Yue
    Du, Meng
    Ma, Xu
    Li, Hui
    Lu, Cailing
    MOLECULAR MEDICINE REPORTS, 2017, 15 (05) : 3193 - 3197
  • [44] Heterozygous UCHL1 is a novel cause of autosomal dominant neurodegeneration with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun
    Tucci, Arianna
    Cipriani, Valentina
    Demidov, German
    Rocca, Clarissa
    Senderek, Jan
    Butryn, Michaela
    Velic, Ana
    Lam, Tanya
    Galanaki, Evangelia
    Cali, Elisa
    Vestito, Letizia
    Maroofian, Reza
    Deininger, Natalie
    Rautenberg, Maren
    Admard, Jakob
    Hahn, Gesa-Astrid
    Bartels, Claudius
    van Os, Nienke
    Horvath, Rita
    Chinnery, Patrick
    Tiet, May Yung
    Hewamadduma, Channa
    Hadjivassiliou, Marios
    Tofaris, George K.
    Wood, Nicholas
    Hayer, Stefanie Nicole
    Bender, Friedemann
    Menden, Benita
    Cordts, Isabell
    Krauss, Joachim K.
    Blahak, Christian
    Strom, Tim
    Sturm, Marc
    De Warrenburg, Bart Van
    Lerche, Holger
    Macek, Boris
    Synofzik, Matthis
    Ossowski, Stephan
    Timmann-Braun, Dagmar
    Wolf, Marc
    Damien, Smedley
    Riess, Olaf
    Schoels, Ludger
    Hengel, Holger
    Houlden, Henry
    Haack, Tobias
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 478 - 480
  • [45] Single Cell RNA Sequencing Reveals Novel Endothelial and Mesenchymal Cellular Interactions and Cellstate Transitions in TNF-mediated Pulmonary Arterial Hypertension
    Bhattacharya, S.
    Xu, Q.
    Yuan, K.
    Misra, R.
    Deummel, S.
    Korman, B.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2023, 207
  • [46] Whole Genome Sequencing Identifies PTGIS as a Novel Susceptibility Gene for Idiopathic Pulmonary Arterial Hypertension
    Wang, Xiao-jian
    Xu, Xi-qi
    Sun, Kai
    Liu, Ke-Qiang
    Li, Su-Qi
    Jiang, Xin
    Zhao, Qin-Hua
    Wang, Lan
    Jing, Zhi-Cheng
    CIRCULATION RESEARCH, 2018, 123 (12) : E70 - E70
  • [47] GALNT1/13 as Novel Mediators of Pulmonary Arterial Hypertension
    Shi, Y.
    Zagorski, J.
    Gupta, A.
    Sun, X.
    Gupta, G.
    Machado, R. F.
    Garcia, J. G.
    Tang, H.
    Desai, A. A.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2021, 203 (09)
  • [48] Integrated bioinformatic analysis reveals YWHAB as a novel diagnostic biomarker for idiopathic pulmonary arterial hypertension
    Wang, Tao
    Zheng, Xuan
    Li, Ruidong
    Liu, Xintian
    Wu, Jinhua
    Zhong, Xiaodan
    Zhang, Wenjun
    Liu, Yujian
    He, Xingwei
    Liu, Wanjun
    Wang, Hongjie
    Zeng, Hesong
    JOURNAL OF CELLULAR PHYSIOLOGY, 2019, 234 (05) : 6449 - 6462
  • [49] UCHL1: A NOVEL GENOTYPE FOR RECESSIVE CHARCOT-MARIE-TOOTH (AR-CMT) DISEASE
    Polavarapu, Kiran
    Shinghavi, Leena
    Chawla, Tanushree
    Vengalil, Seena
    Nashi, Saraswati
    Preethish-Kumar, Veeramani
    Raju, Sanita
    Arunachal, Gautham
    Nalini, Atchayaram
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (01) : 144 - 144
  • [50] Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture
    Piao, Chunmei
    Zhu, Yan
    Zhang, Chen
    Xi, Xin
    Liu, Xuxia
    Zheng, Shuai
    Li, Xiaoyan
    Guo, Jun
    Jia, Lixin
    Nakanishi, Toshio
    Cai, Tao
    Gu, Hong
    Du, Jie
    CLINICAL SCIENCE, 2016, 130 (17) : 1559 - 1569