Characterization of Diverse Human FOXN1 Mutations Reveals Complete and Partial Loss-of-Function and Gain-of-Function Consequences

被引：0

作者：

van Oers, Nicolai ^{[1
]}

Moses, Angela ^{[1
]}

Bhalla, Pratibha ^{[1
]}

Wysocki, Christian ^{[1
]}

Seroogy, Christine ^{[1
]}

Markert, M. Louise ^{[1
]}

de la Morena, M. Teresa ^{[1
]}

机构：

[1] UT Southwestern Med Ctr, Dallas, TX USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2022年 / 42卷 / SUPPL 1期

关键词：

Thymus hypoplasia; FOXN1 transcription factor; Thymopoiesis; TRECs;

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：

引用

页码：S14 / S15

页数：2

共 50 条

[1] Characterization of Human FOXN1 Mutations Uncovers both Loss- and Gain-of-Function Outcomes
van Oers, Nicolai S.
Moses, Angela
Bhalla, Pratibha
Wysocki, Christian
Seroogy, Christine
Markert, M. Louise
de la Morena, M. Teresa
[J]. JOURNAL OF IMMUNOLOGY, 2022, 208 (01):
[2] 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.
[J]. BLOOD, 2019, 134
[3] JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
Nils Ott
Laura Faletti
Maximilian Heeg
Virginia Andreani
Bodo Grimbacher
[J]. Journal of Clinical Immunology, 2023, 43 : 1326 - 1359
[4] JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
Ott, Nils
Faletti, Laura
Heeg, Maximilian
Andreani, Virginia
Grimbacher, Bodo
[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1326 - 1359
[5] NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
Bend, Eric G.
Si, Yue
Stevenson, David A.
Bayrak-Toydemir, Pinar
Newcomb, Tara M.
Jorgensen, Erik M.
Swoboda, Kathryn J.
[J]. NEUROLOGY, 2016, 87 (11) : 1131 - 1139
[6] Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
L Ruan
Z Zhang
L Mu
P Burnley
L Wang
B Coder
Q Zhuge
D-M Su
[J]. Cell Death & Disease, 2014, 5 : e1457 - e1457
[7] Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
Ruan, L.
Zhang, Z.
Mu, L.
Burnley, P.
Wang, L.
Coder, B.
Zhuge, Q.
Su, D-M
[J]. CELL DEATH & DISEASE, 2014, 5 : e1457 - e1457
[8] Analysis of sperm galactosyltransferase through gain-of-function and loss-of-function mutations
Shur, B
Lu, QX
Shi, XD
Paruchuru, K
Miller, D
[J]. MOLECULAR BIOLOGY OF THE CELL, 1998, 9 : 7A - 7A
[9] Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
Flanagan, Sarah E.
Patch, Ann-Marie
Ellard, Sian
[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (04) : 533 - 537
[10] Prediction of gain-of-function and loss-of-function mutations using In Silico Bioinformatics Tools
Ghosh, A.
Navarini, A.
[J]. EXPERIMENTAL DERMATOLOGY, 2018, 27 (03) : E41 - E41

← 1 2 3 4 5 →