Characterization of Human FOXN1 Mutations Uncovers both Loss- and Gain-of-Function Outcomes

被引：0
|
作者：
van Oers, Nicolai S.
Moses, Angela
Bhalla, Pratibha
Wysocki, Christian
Seroogy, Christine
Markert, M. Louise
de la Morena, M. Teresa
机构：
来源：
JOURNAL OF IMMUNOLOGY | 2022年 / 208卷 / 01期
关键词：
D O I：
10.4049/jimmunol.208.Supp.159.10
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
159.10
引用
收藏
页数：2
相关论文
共 50 条
  • [41] A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2
    Ozawa, J.
    Ohno, S.
    Toyoda, F.
    Fukuyama, M.
    Harita, T.
    Makiyama, T.
    Saitoh, H.
    Suzuki, H.
    Saitoh, A.
    Matsuura, H.
    Horie, M.
    EUROPEAN HEART JOURNAL, 2016, 37 : 681 - 681
  • [42] Analysis of sperm galactosyltransferase through gain-of-function and loss-of-function mutations
    Shur, B
    Lu, QX
    Shi, XD
    Paruchuru, K
    Miller, D
    MOLECULAR BIOLOGY OF THE CELL, 1998, 9 : 7A - 7A
  • [43] Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
    Flanagan, Sarah E.
    Patch, Ann-Marie
    Ellard, Sian
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (04) : 533 - 537
  • [44] Loss- and Gain-of-Function Approaches Indicate a Dual Role Exerted by Regulatory T Cells in Pulmonary Paracoccidioidomycosis
    Bazan, Silvia B.
    Costa, Tania A.
    de Araujo, Eliseu Frank
    Feriotti, Claudia
    Loures, Flavio V.
    Pretel, Fernando D.
    Calich, Vera L. G.
    PLOS NEGLECTED TROPICAL DISEASES, 2015, 9 (10):
  • [45] Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling
    Arjunaraja, Swadhinya
    Snow, Andrew L.
    CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 15 (06) : 533 - 538
  • [46] Using multiplexed genome editing to distinguish between loss- and gain-of-function variants in CARD11
    James, Richard G.
    Meitlis, Iana
    Hung, King
    Lea, Starita
    Rawlings, David J.
    Allenspach, Eric J.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 414 - 415
  • [47] Loss- and gain-of-function mutations in the Type 1 IP3 receptor (IP3R1) affect myogenic constriction of murine cerebral resistance arteries
    Braun, Andrew
    Zhu, Hai-Lei
    Mishra, Ramesh
    Chen, S. R. Wayne
    Gordon, Grant
    Cole, William
    PHYSIOLOGY, 2023, 38
  • [48] Using Multiplexed Genome Editing to Distinguish between Loss- and Gain-of-Function Variants in CARD11
    James, Richard
    Meitlis, Iana
    Hung, King L.
    Rawlings, David J.
    Allenspach, Eric J.
    Starita, Lea M.
    BLOOD, 2017, 130
  • [49] Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations
    Katsumura, Koichi Ricardo
    Liu, Peng
    Mehta, Charu
    Hewitt, Kyle J.
    Soukup, Alexandra
    de Andrade, Isabela J. Fraga
    Ranheim, Erik A.
    Johnson, Kirby D.
    Bresnick, Emery H.
    BLOOD, 2019, 134
  • [50] Prediction of gain-of-function and loss-of-function mutations using In Silico Bioinformatics Tools
    Ghosh, A.
    Navarini, A.
    EXPERIMENTAL DERMATOLOGY, 2018, 27 (03) : E41 - E41
12345