Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

被引:0
|
作者
Alejandro Ferrer
Abhishek A. Mangaonkar
Susanna Stroik
Michael T. Zimmermann
Ashley N. Sigafoos
Patrick S. Kamath
Douglas A. Simonetto
Mark E. Wylam
Eva M. Carmona
Konstantinos N. Lazaridis
Steve Peters
Keith Stewart
Eric W. Klee
Eric A. Hendrickson
Mrinal M. Patnaik
机构
[1] Mayo Clinic,Center for Individualized Medicine
[2] Mayo Clinic,Department of Health Sciences Research
[3] Mayo Clinic,Department of Hematology
[4] University of Minnesota,Department of Biochemistry, Molecular Biology and Biophysics
[5] Medical College of Wisconsin,Genomic Sciences and Precision Medicine Center
[6] Mayo Clinic,Department of Oncology
[7] Mayo Clinic,Department of Gastroenterology
[8] Mayo Clinic,Pulmonary and Critical Care Medicine
[9] University of North Carolina at Chapel Hill,Lineberger Comprehensive Cancer Center
来源
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes
    Ferrer, Alejandro
    Mangaonkar, Abhishek A.
    Stroik, Susanna
    Zimmermann, Michael T.
    Sigafoos, Ashley N.
    Kamath, Patrick S.
    Simonetto, Douglas A.
    Wylam, Mark E.
    Carmona, Eva M.
    Lazaridis, Konstantinos N.
    Peters, Steve
    Stewart, Keith
    Klee, Eric W.
    Hendrickson, Eric A.
    Patnaik, Mrinal M.
    BLOOD CANCER JOURNAL, 2020, 10 (11)
  • [2] Functional Testing of Variants of Uncertain Significance in TERC, TERT,and RTEL1 from Adult Patients with Telomere Biology Disorders
    Simon, Rachel A.
    Finke, Christy M.
    Lasho, Terra L.
    Schmitz, Christopher T.
    Fernandez, Jenna A.
    Carmona-Porquera, Eva M.
    Wylam, Mark E.
    Witzig, Thomas E.
    McAllister, Tammy M.
    Vitek, Carolyn R. Rohrer
    Lazaridis, Konstantinos N.
    Mangaonkar, Abhishek A.
    Patnaik, Mrinal M.
    Ferrer, Alejandro
    BLOOD, 2023, 142
  • [3] TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
    Du, Hong-Yan
    Pumbo, Elena
    Ivanovich, Jennifer
    An, Ping
    Maziarz, Richard T.
    Reiss, Ulrike M.
    Chirnomas, Deborah
    Shimamura, Akiko
    Vlachos, Adrianna
    Lipton, Jeffrey M.
    Goyal, Rakesh K.
    Goldman, Frederick
    Wilson, David B.
    Mason, Philip J.
    Bessler, Monica
    BLOOD, 2009, 113 (02) : 309 - 316
  • [4] Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk
    Walsh, Kyle M.
    Codd, Veryan
    Smirnov, Ivan V.
    Rice, Terri
    Decker, Paul A.
    Hansen, Helen M.
    Kollmeyer, Thomas
    Kosel, Matthew L.
    Molinaro, Annette M.
    McCoy, Lucie S.
    Bracci, Paige M.
    Cabriga, Belinda S.
    Pekmezci, Melike
    Zheng, Shichun
    Wiemels, Joseph L.
    Pico, Alexander R.
    Tihan, Tarik
    Berger, Mitchell S.
    Chang, Susan M.
    Prados, Michael D.
    Lachance, Daniel H.
    O'Neill, Brain Patrick
    Sicotte, Hugues
    Eckel-Passow, Jeanette E.
    van der Harst, Pim
    Wiencke, John K.
    Samani, Nilesh J.
    Jenkins, Robert B.
    Wrensch, Margaret R.
    NATURE GENETICS, 2014, 46 (07) : 731 - 735
  • [5] Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk
    Kyle M Walsh
    Veryan Codd
    Ivan V Smirnov
    Terri Rice
    Paul A Decker
    Helen M Hansen
    Thomas Kollmeyer
    Matthew L Kosel
    Annette M Molinaro
    Lucie S McCoy
    Paige M Bracci
    Belinda S Cabriga
    Melike Pekmezci
    Shichun Zheng
    Joseph L Wiemels
    Alexander R Pico
    Tarik Tihan
    Mitchell S Berger
    Susan M Chang
    Michael D Prados
    Daniel H Lachance
    Brian Patrick O'Neill
    Hugues Sicotte
    Jeanette E Eckel-Passow
    Pim van der Harst
    John K Wiencke
    Nilesh J Samani
    Robert B Jenkins
    Margaret R Wrensch
    Nature Genetics, 2014, 46 : 731 - 735
  • [6] Bone Marrow Failure Associated with Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes
    Vadivelan, Akhila
    Martinez, Julian
    De Oliveira, Satiro
    Moore, Theodore
    Ikeda, Alan
    Aubert, Geraldine
    Chang, Vivian Y.
    BLOOD, 2023, 142
  • [7] Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
    Stenton, Sarah L.
    Piekutowska-Abramczuk, Dorota
    Kulterer, Lea
    Kopajtich, Robert
    Claeys, Kristl G.
    Ciara, Elzbieta
    Eisen, Johannes
    Ploski, Rafal
    Pronicka, Ewa
    Malczyk, Katarzyna
    Wagner, Matias
    Wortmann, Saskia B.
    Prokisch, Holger
    HUMAN MUTATION, 2021, 42 (03) : 310 - 319
  • [8] Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases
    Mauro-Herrera, Margarita
    Chiang, John
    Radojevic, Bojana
    Bennett, Lea D.
    GENES, 2021, 12 (07)
  • [9] The functional impact of variants of uncertain significance in BRCA2
    Mesman, Romy L. S.
    Calleja, Fabienne M. G. R.
    Hendriks, Giel
    Morolli, Bruno
    Misovic, Branislav
    Devilee, Peter
    van Asperen, Christi J.
    Vrieling, Harry
    Vreeswijk, Maaike P. G.
    GENETICS IN MEDICINE, 2019, 21 (02) : 293 - 302
  • [10] Validation of "in silico" predictors for analyzing variants of uncertain significance in lysosomal disorders
    Arevalo-Vargas, Isidro
    Gonzalo, Irene Serrano
    Roca-Esteve, Sonia
    Lahoz, Carlos
    Mozas, Pilar
    Giraldo, Pilar
    MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)