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- [1] Characterization of Diverse Human FOXN1 Mutations Reveals Complete and Partial Loss-of-Function and Gain-of-Function ConsequencesJOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S14 - S15van Oers, Nicolai论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAMoses, Angela论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USABhalla, Pratibha论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAWysocki, Christian论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USASeroogy, Christine论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAMarkert, M. Louise论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAde la Morena, M. Teresa论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USA
- [2] Stochastic modeling of loss- and gain-of-function mutations in cancerMATHEMATICAL MODELS & METHODS IN APPLIED SCIENCES, 2007, 17 (01): : 1647 - 1673Komarova, Natalia L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Math, Irvine, CA 92697 USA Univ Calif Irvine, Dept Math, Irvine, CA 92697 USA
- [3] Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile miceCell Death & Disease, 2014, 5 : e1457 - e1457L Ruan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyZ Zhang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyL Mu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyP Burnley论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyL Wang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyB Coder论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyQ Zhuge论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and ImmunologyD-M Su论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Provincial Key Laboratory of Aging and Neurological Disorder Research,Department of Cell Biology and Immunology
- [4] Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile miceCELL DEATH & DISEASE, 2014, 5 : e1457 - e1457Ruan, L.论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R China Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaZhang, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaMu, L.论文数: 0 引用数: 0 h-index: 0机构: Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaBurnley, P.论文数: 0 引用数: 0 h-index: 0机构: Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaWang, L.论文数: 0 引用数: 0 h-index: 0机构: Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaCoder, B.论文数: 0 引用数: 0 h-index: 0机构: Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaZhuge, Q.论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R China Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R ChinaSu, D-M论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R China Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Immunol, Ft Worth, TX USA Wenzhou Med Univ, Affiliated Hosp 1, Zhejiang Prov Key Lab Aging & Neurol Disorder Res, Wenzhou 325000, Peoples R China
- [5] Loss- and gain-of-function mutations show a Polycomb group function for Ring1A in miceDEVELOPMENT, 2000, 127 (23): : 5093 - 5100Lorente, MD论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainMarcos-Gutiérrez, C论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainPérez, C论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainSchoorlemmer, J论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainRamírez, A论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainMagin, T论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, SpainVidal, M论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol, E-28006 Madrid, Spain
- [6] Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2023, 212 (02): : 96 - 106Asano, Takaki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanUtsumi, Takanori论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanKagawa, Reiko论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanKarakawa, Shuhei论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan
- [7] Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different MechanismsNEURON, 2020, 106 (04) : 589 - +Chung, Hyung-lok论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWangler, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMarcogliese, Paul C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJo, Juyeon论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Neurol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARavenscroft, Thomas A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAZuo, Zhongyuan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADuraine, Lita论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Li-Kroeger, David论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchmidt, Robert E.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Pathol & Immunol, Div Neuropathol, Sch Med, St Louis, MO 63110 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Rosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABurrage, Lindsay论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHerndon, Mitchell J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Pathol & Immunol, Div Neuropathol, Sch Med, St Louis, MO 63110 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChen, Shan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Vawter-Lee, Marissa论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHopkin, Robert论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARodriguez-Smith, Jackeline论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Rheumatol, Cincinnati, OH 45229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHenrickson, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Rheumatol, Cincinnati, OH 45229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMoser, Ann B.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD 21205 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJones, Richard O.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD 21205 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWatkins, Paul论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD 21205 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAYoo, Taekyeong论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, Seoul, South Korea Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMar, Soe论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis Childrens Hosp, Dept Neurol, Sch Med, St Louis, MO 63110 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChoi, Murim论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABucelli, Robert C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAYamamoto, Shinya论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Hyun Kyoung论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Neurol, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPrada, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChae, Jong-Hee论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVogel, Tiphanie P.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Ctr Human Immunobiol, Dept Pediat,Sect Rheumatol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABellen, Hugo J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [8] Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutationsELIFE, 2021, 10Zhao, Qingqing论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R China Univ Rochester, Sch Med & Dent, Dept Pharmacol & Physiol, Rochester, NY 14627 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaKong, Yang论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, Vagelos Coll Phys & Surg, New York, NY 10027 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaKittredge, Alec论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pharmacol, New York, NY USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaLi, Yao论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, Vagelos Coll Phys & Surg, New York, NY 10027 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaShen, Yin论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ, Renmin Hosp, Eye Ctr, Med Res Inst, Wuhan, Peoples R China Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaZhang, Yu论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, Vagelos Coll Phys & Surg, New York, NY 10027 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaTsang, Stephen H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Jonas Childrens Vis Care,New York Presbyterian Ho, Dept Ophthalmol,Edward S Harkness Eye Inst,Inst H, New York, NY 10027 USA Columbia Univ, Irving Med Ctr, New York Presbyterian Hosp,Dept Pathol & Cell Bio, Edward S Harkness Eye Inst,Inst Human Nutr & Colu, New York, NY 10027 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R ChinaYang, Tingting论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med & Dent, Dept Pharmacol & Physiol, Rochester, NY 14627 USA Columbia Univ, Dept Ophthalmol, Vagelos Coll Phys & Surg, New York, NY 10027 USA Wuhan Univ, Eye Ctr, Renmin Hosp, Wuhan, Peoples R China
- [9] Adapting Proteostasis to Ameliorate Loss- and Gain-of-Function DiseasesFASEB JOURNAL, 2011, 25Kelly, Jeffery W.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, La Jolla, CA 92037 USA Scripps Res Inst, La Jolla, CA 92037 USA
- [10] Action Potential Abnormalities due to Loss- or Gain-of-Function Mutations in KCNJ22014 COMPUTING IN CARDIOLOGY CONFERENCE (CINC), VOL 41, 2014, 41 : 1053 - 1056Wilders, Ronald论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands