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A Novel Missense Mutation 224GT
Author / Creator:Fan, Wufang ; Wang, Bei ; He, Shanshan ; Zhang, Tengfei ; Yin, Chenxing ; Chen, Yunping ; Zheng, Shuqi ; Zhang, Jixia ; Li, Lin
Publisher:Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0168484
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A171 A MISSENSE MUTATION IN FCGBP, A STRUCTURAL COMPONENT OF MUC2 MUCUS, ALTERS THE GLYCOMICS PROFILE AND FUNCTION OF COLONIC MUCUS
Author / Creator:Gorman, H ; Moreau, F ; Zandberg, W ; Bergstrom, K ; Chadee, K
Journal title:Journal of the Canadian Association of Gastroenterology, 2024-02, Vol.7 (Supplement_1), p.133-133
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Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
Author / Creator:Abe, Yuki ; Yamamoto, Toshiyuki ; Izumita, Yukie ; Tsukano, Shinya
Journal title:Human genome variation, 2020-12, Vol.7, p.17-17
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Jervell and Lange-Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family
Author / Creator:Bostan, Ozlem ; Temel, Sehime G ; Cangül, Hakan ; Archer, Caroline N. S ; Çil, Ergun
Publisher:Springer
Journal title:Pediatric cardiology, 2013-12, Vol.34 (8), p.2063
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A Novel Recessive Missense Mutation in KRT14 Reveals Striking Phenotypic Heterogeneity in Epidermolysis Bullosa Simplex
Author / Creator:Indelman, Margarita ; Bergman, Reuven ; Sprecher, Eli
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2005-01, Vol.124 (1), p.272-274
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Hiperplasia adrenal congénita asociada a mutación no descrita en el gen CYP17A1
Author / Creator:Builes-Montaño, Carlos E. ; Rueda-Galvis, Myriam V. ; Fragozo-Ramos, María C. ; Agredo-Delgado, Valentina ; Zea-Lopera, Julián ; Muñetón-Peña, Carlos M.
Publisher:Bogotá: Asociación Colombiana de Endocrinología (ACE)
Journal title:Revista Colombiana de endocrinología, diabetes & metabolismo, 2022-06, Vol.9 (2)
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Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family
Author / Creator:Akimoto, Kaoru ; Furutani, Michiko ; Imamura, Shin-Ichiro ; Furutani, Yoshiyuki ; Kasanuki, Hiroshi ; Takao, Atsuyoshi ; Momma, Kazuo ; Matsuoka, Rumiko
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1998, Vol.11 (S1), p.S184-S186
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A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
Author / Creator:Wu, Mei-Chen ; Tsai, Fuu-jen ; Lee, Cheng-Chun ; Tsai, Chang-Hai ; Wu, Jer-Yuarn
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-11, Vol.16 (5), p.447-447
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Ovarialkarzinom und Präkanzerosen
Author / Creator:Mackelenbergh, M ; Maass, N ; Jonat, W ; Hilpert, F
Publisher:Heidelberg: Springer Nature B.V
Journal title:Gynäkologie (Heidelberg, Germany), 2015-06, Vol.48 (6), p.415-421
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Author / Creator:Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun ; Coe, Bradley P ; Turner, Tychele N ; Stessman, Holly A F ; Hoekzema, Kendra ; Kvarnung, Malin ; Shaw, Marie ; Friend, Kathryn ; Liebelt, Jan ; Barnett, Christopher ; Thompson, Elizabeth M ; Haan, Eric ; Guo, Hui ; Anderlid, Britt-Marie ; Nordgren, Ann ; Lindstrand, Anna ; Vandeweyer, Geert ; Alberti, Antonino ; Avola, Emanuela ; Vinci, Mirella ; Giusto, Stefania ; Pramparo, Tiziano ; Pierce, Karen ; Nalabolu, Srinivasa ; Michaelson, Jacob J ; Sedlacek, Zdenek ; Santen, Gijs W E ; Peeters, Hilde ; Hakonarson, Hakon ; Courchesne, Eric ; Romano, Corrado ; Kooy, R Frank ; Bernier, Raphael A ; Nordenskjöld, Magnus ; Gecz, Jozef ; Xia, Kun ; Zweifel, Larry S ; Eichler, Evan E
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2017-08, Vol.20 (8), p.1043-1051
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Suppression of STING signaling through epigenetic silencing and missense mutation impedes DNA damage mediated cytokine production
Author / Creator:Konno, Hiroyasu ; Yamauchi, Shota ; Berglund, Anders ; Putney, Ryan M. ; Mulé, James J. ; Barber, Glen N.
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2018-04, Vol.37 (15), p.2037-2051
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Comprehensive assessment of cancer missense mutation clustering in protein structures
Author / Creator:Kamburov, Atanas ; Lawrence, Michael S. ; Polak, Paz ; Leshchiner, Ignaty ; Lage, Kasper ; Golub, Todd R. ; Lander, Eric S. ; Getz, Gad
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-10, Vol.112 (40), p.E5486-E5495
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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
Author / Creator:Iacovazzo, Donato ; Flanagan, Sarah E. ; Walker, Emily ; Quezado, Rosana ; de Sousa Barros, Fernando Antonio ; Caswell, Richard ; Johnson, Matthew B. ; Wakeling, Matthew ; Brändle, Michael ; Guo, Min ; Dang, Mary N. ; Gabrovska, Plamena ; Niederle, Bruno ; Christ, Emanuel ; Jenni, Stefan ; Sipos, Bence ; Nieser, Maike ; Frilling, Andrea ; Dhatariya, Ketan ; Chanson, Philippe ; de Herder, Wouter W. ; Konukiewitz, Björn ; Klöppel, Günter ; Stein, Roland ; Korbonits, Márta ; Ellard, Sian
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-01, Vol.115 (5), p.1027-1032
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A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype
Author / Creator:Xu, Nuo ; Zheng, Liping ; Dai, Zhehao ; Zhu, Jun ; Xie, Peng ; Yang, Shun ; Chen, Fei
Publisher:England: BioMed Central
Journal title:Hereditas, 2024-01, Vol.161 (1), p.4-4, Article 4
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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
Author / Creator:Hildebrand, Joanne M. ; Kauppi, Maria ; Majewski, Ian J. ; Liu, Zikou ; Cox, Allison J. ; Miyake, Sanae ; Petrie, Emma J. ; Silk, Michael A. ; Li, Zhixiu ; Tanzer, Maria C. ; Brumatti, Gabriela ; Young, Samuel N. ; Hall, Cathrine ; Garnish, Sarah E. ; Corbin, Jason ; Stutz, Michael D. ; Di Rago, Ladina ; Gangatirkar, Pradnya ; Josefsson, Emma C. ; Rigbye, Kristin ; Anderton, Holly ; Rickard, James A. ; Tripaydonis, Anne ; Sheridan, Julie ; Scerri, Thomas S. ; Jackson, Victoria E. ; Czabotar, Peter E. ; Zhang, Jian-Guo ; Varghese, Leila ; Allison, Cody C. ; Pellegrini, Marc ; Tannahill, Gillian M. ; Hatchell, Esme C. ; Willson, Tracy A. ; Stockwell, Dina ; de Graaf, Carolyn A. ; Collinge, Janelle ; Hilton, Adrienne ; Silke, Natasha ; Spall, Sukhdeep K. ; Chau, Diep ; Athanasopoulos, Vicki ; Metcalf, Donald ; Laxer, Ronald M. ; Bassuk, Alexander G. ; Darbro, Benjamin W. ; Fiatarone Singh, Maria A. ; Vlahovich, Nicole ; Hughes, David ; Kozlovskaia, Maria ; Ascher, David B. ; Warnatz, Klaus ; Venhoff, Nils ; Thiel, Jens ; Biben, Christine ; Blum, Stefan ; Reveille, John ; Hildebrand, Michael S. ; Vinuesa, Carola G. ; McCombe, Pamela ; Brown, Matthew A. ; Kile, Benjamin T. ; McLean, Catriona ; Bahlo, Melanie ; Masters, Seth L. ; Nakano, Hiroyasu ; Ferguson, Polly J. ; Murphy, James M. ; Alexander, Warren S. ; Silke, John
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-06, Vol.11 (1), p.3150-3150, Article 3150
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Heterozygous HTRA1 missense mutation in CADASIL-like family disease
Author / Creator:Wu, Xiaowei ; Li, Changxin ; Mao, Jinming ; Li, Ling ; Liu, Yan ; Hou, Yao
Publisher:Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
Journal title:Brazilian journal of medical and biological research, 2018-01, Vol.51 (5), p.e6632-e6632
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Author / Creator:Jabara, Haifa H ; Boyden, Steven E ; Chou, Janet ; Ramesh, Narayanaswamy ; Massaad, Michel J ; Benson, Halli ; Bainter, Wayne ; Fraulino, David ; Rahimov, Fedik ; Sieff, Colin ; Liu, Zhi-Jian ; Alshemmari, Salem H ; Al-Ramadi, Basel K ; Al-Dhekri, Hasan ; Arnaout, Rand ; Abu-Shukair, Mohammad ; Vatsayan, Anant ; Silver, Eli ; Ahuja, Sanjay ; Davies, E Graham ; Sola-Visner, Martha ; Ohsumi, Toshiro K ; Andrews, Nancy C ; Notarangelo, Luigi D ; Fleming, Mark D ; Al-Herz, Waleed ; Kunkel, Louis M ; Geha, Raif S
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2016-01, Vol.48 (1), p.74-78
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The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report
Author / Creator:He, Fangkai ; Wang, Yang ; Ning, Weiwei ; Liu, Chao ; Guan, Xiaojun ; Yao, Yao
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2025-03, Vol.19 (1), p.102-6, Article 102
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A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors
Author / Creator:Petrini, Iacopo ; Meltzer, Paul S ; Kim, In-Kyu ; Lucchi, Marco ; Park, Kang-Seo ; Fontanini, Gabriella ; Gao, James ; Zucali, Paolo A ; Calabrese, Fiorella ; Favaretto, Adolfo ; Rea, Federico ; Rodriguez-Canales, Jaime ; Walker, Robert L ; Pineda, Marbin ; Zhu, Yuelin J ; Lau, Christopher ; Killian, Keith J ; Bilke, Sven ; Voeller, Donna ; Dakshanamurthy, Sivanesan ; Wang, Yisong ; Giaccone, Giuseppe
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-08, Vol.46 (8), p.844-849
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function
Author / Creator:Wang, Li ; Pang, Kaifang ; Han, Kihoon ; Adamski, Carolyn J. ; Wang, Wei ; He, Lingjie ; Lai, Jason K. ; Bondar, Vitaliy V ; Duman, Joseph G. ; Richman, Ronald ; Tolias, Kimberley F. ; Barth, Patrick ; Palzkill, Timothy ; Liu, Zhandong ; Holder, J. Lloyd ; Zoghbi, Huda Y.
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2020-10, Vol.25 (10), p.2534-2555
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Showing 1 to 20 of 16,631 results

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A Novel Missense Mutation 224GT

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A171 A MISSENSE MUTATION IN FCGBP, A STRUCTURAL COMPONENT OF MUC2 MUCUS, ALTERS THE GLYCOMICS PROFILE AND FUNCTION OF COLONIC MUCUS

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Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

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Jervell and Lange-Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

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A Novel Recessive Missense Mutation in KRT14 Reveals Striking Phenotypic Heterogeneity in Epidermolysis Bullosa Simplex

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Hiperplasia adrenal congénita asociada a mutación no descrita en el gen CYP17A1

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Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family

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A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

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Ovarialkarzinom und Präkanzerosen

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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

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Suppression of STING signaling through epigenetic silencing and missense mutation impedes DNA damage mediated cytokine production

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Comprehensive assessment of cancer missense mutation clustering in protein structures

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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

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A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

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Heterozygous HTRA1 missense mutation in CADASIL-like family disease

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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

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The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report

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A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors

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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

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