Clinical impact of a non-canonical splicing variant in NFKB1 gene

被引：0
|
作者：
Jurado Orozco, Alicia [1 ]
Morales Garcia, Carmen [1 ]
Exposito Bey, Alba [1 ]
Lucena Soto, Jose Manuel [1 ]
机构：
[1] Hosp Univ Virgen del Rocio, Seville, Spain
来源：
EUROPEAN JOURNAL OF IMMUNOLOGY | 2024年 / 54卷
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：
1259 - P2.
引用
收藏
页码：1024 / 1024
页数：1
相关论文
共 50 条
  • [1] Siblings With Thrombocytopenia Found To Have a Pathogenic Variant in the NFkB1 Gene
    Bakheet, Kholoud
    Habiballah, Saddiq
    Basahl, Emtenan
    Algiraigri, Ali
    Alsaidalani, Ashwag
    Nashawi, Mohammed
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (11)
  • [2] Lessons from non-canonical splicing
    Sibley, Christopher R.
    Blazquez, Lorea
    Ule, Jernej
    NATURE REVIEWS GENETICS, 2016, 17 (07) : 407 - 421
  • [3] Lessons from non-canonical splicing
    Christopher R. Sibley
    Lorea Blazquez
    Jernej Ule
    Nature Reviews Genetics, 2016, 17 : 407 - 421
  • [4] Protein Splicing by a Non-Canonical Mechanism
    Reitter, Julie
    Schufreider, Ann K.
    Mills, Kenneth V.
    FASEB JOURNAL, 2009, 23
  • [5] Comprehensive portrait of canonical and non-canonical splicing in cancer
    Jayasinghe, Reyka G.
    Cao, Song
    Gao, Qingsong
    Wyczalkowski, Matthew A.
    Sengupta, Sohini
    Walter, Matthew J.
    Maher, Christopher
    Wendl, Michael C.
    Chen, Feng
    Eyras, Eduardo
    Lazar, Alexander J.
    Chen, Ken
    Shmulevich, Ilya
    Ding, Li
    CANCER RESEARCH, 2018, 78 (13)
  • [6] Variable Clinical Presentation, Diagnostic and Treatment Challenges in a family with a novel variant of NFKB1
    Alas, Eugenia
    Ujhazi, Boglarka
    Potts, David
    Krausz, Mate
    Hassunah, Pia
    Patel, Priya
    Hajirawala, Monica
    Csomos, Krisztian
    Grimbacher, Bodo
    Walter, Jolan
    CLINICAL IMMUNOLOGY, 2023, 250 : 117 - 118
  • [7] Identifying pathogenic non-canonical splicing variants
    Fuss, Adina
    Rips, Yonatan
    Salah, Somaya
    Meiner, Vardiella
    Yanovsky-Dagan, Shira
    Harel, Tamar
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 595 - 596
  • [8] MCL-1V, a novel mouse antiapoptotic MCL-1 variant, generated by RNA splicing at a non-canonical splicing pair
    Kojima, Shogo
    Hyakutake, Akira
    Koshikawa, Nobuko
    Nakagawara, Akira
    Takenaga, Keizo
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2010, 391 (01) : 492 - 497
  • [9] A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
    Ahmed Bouras
    Pierre Naibo
    Clémentine Legrand
    François Le Marc’hadour
    Eric Ruano
    Chloé Grand-Masson
    Cedrick Lefol
    Qing Wang
    Familial Cancer, 2023, 22 : 303 - 306
  • [10] A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
    Bouras, Ahmed
    Naibo, Pierre
    Legrand, Clementine
    Le Marc'hadour, Francois
    Ruano, Eric
    Grand-Masson, Chloe
    Lefol, Cedrick
    Wang, Qing
    FAMILIAL CANCER, 2023, 22 (03) : 303 - 306
12345