Search the collection

102 results for Mutation,+Missense+-+physiology

Sort by:

Sort by

Limit results to:

20 per page

102 results for Mutation,+Missense+-+physiology

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort
Author / Creator:Ponińska, Joanna ; Samoliński, Bolesław ; Tomaszewska, Aneta ; Raciborski, Filip ; Samel-Kowalik, Piotr ; Walkiewicz, Artur ; Lipiec, Agnieszka ; Piekarska, Barbara ; Komorowski, Jarosław ; Krzych-Fałta, Edyta ; Namysłowski, Andrzej ; Borowicz, Jacek ; Kostrzewa, Grażyna ; Majewski, Sławomir ; Płoski, Rafał
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e16933
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Author / Creator:Iqbal, Sumaiya ; Pérez-Palma, Eduardo ; Jespersen, Jakob B. ; May, Patrick ; Hoksza, David ; Heyne, Henrike O. ; Ahmed, Shehab S. ; Rifat, Zaara T. ; Rahman, M. Sohel ; Lage, Kasper ; Palotie, Aarno ; Cottrell, Jeffrey R. ; Wagner, Florence F. ; Daly, Mark J. ; Campbell, Arthur J. ; Lal, Dennis
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-11, Vol.117 (45), p.28201-28211
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein
Author / Creator:Fröhlich, Chris ; Grabiger, Stefan ; Schwefel, David ; Faelber, Katja ; Rosenbaum, Eva ; Mears, Jason ; Rocks, Oliver ; Daumke, Oliver
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2013-05, Vol.32 (9), p.1280-1292
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
Author / Creator:van de Ven, Johannes P H ; Nilsson, Sara C ; Tan, Perciliz L ; Buitendijk, Gabriëlle H S ; Ristau, Tina ; Mohlin, Frida C ; Nabuurs, Sander B ; Schoenmaker-Koller, Frederieke E ; Smailhodzic, Dzenita ; Campochiaro, Peter A ; Zack, Donald J ; Duvvari, Maheswara R ; Bakker, Bjorn ; Paun, Codrut C ; Boon, Camiel J F ; Uitterlinden, Andre G ; Liakopoulos, Sandra ; Klevering, B Jeroen ; Fauser, Sascha ; Daha, Mohamed R ; Katsanis, Nicholas ; Klaver, Caroline C W ; Blom, Anna M ; Hoyng, Carel B ; den Hollander, Anneke I
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-07, Vol.45 (7), p.813-817
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Clonal expansion and emergence of environmental multiple-triazole-resistant Aspergillus fumigatus strains carrying the TR₃₄/L98H mutations in the cyp51A gene in India
Author / Creator:Chowdhary, Anuradha ; Kathuria, Shallu ; Xu, Jianping ; Sharma, Cheshta ; Sundar, Gandhi ; Singh, Pradeep Kumar ; Gaur, Shailendra N ; Hagen, Ferry ; Klaassen, Corné H ; Meis, Jacques F
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-12, Vol.7 (12), p.e52871
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
Author / Creator:Etherton, Mark ; Földy, Csaba ; Sharma, Manu ; Tabuchi, Katsuhiko ; Liu, Xinran ; Shamloo, Mehrdad ; Malenka, Robert C ; Südhof, Thomas C
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-08, Vol.108 (33), p.13764-13769
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
Author / Creator:Prieto, Marta ; Folci, Alessandra ; Poupon, Gwénola ; Schiavi, Sara ; Buzzelli, Valeria ; Pronot, Marie ; François, Urielle ; Pousinha, Paula ; Lattuada, Norma ; Abelanet, Sophie ; Castagnola, Sara ; Chafai, Magda ; Khayachi, Anouar ; Gwizdek, Carole ; Brau, Frédéric ; Deval, Emmanuel ; Francolini, Maura ; Bardoni, Barbara ; Humeau, Yann ; Trezza, Viviana ; Martin, Stéphane
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-03, Vol.12 (1), p.1557-1557, Article 1557
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Collateral fitness effects of mutations
Author / Creator:Mehlhoff, Jacob D. ; Stearns, Frank W. ; Rohm, Dahlia ; Wang, Buheng ; Tsou, Erh-Yeh ; Dutta, Nisita ; Hsiao, Meng-Hsuan ; Gonzalez, Courtney E. ; Rubin, Alan F. ; Ostermei, Marc
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (21), p.11597-11607
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans
Author / Creator:Di Meglio, Paola ; Di Cesare, Antonella ; Laggner, Ute ; Chu, Chung-Ching ; Napolitano, Luca ; Villanova, Federica ; Tosi, Isabella ; Capon, Francesca ; Trembath, Richard C ; Peris, Ketty ; Nestle, Frank O
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e17160
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy
Author / Creator:Lee, Albert ; Rayner, Stephanie L. ; Gwee, Serene S. L. ; De Luca, Alana ; Shahheydari, Hamideh ; Sundaramoorthy, Vinod ; Ragagnin, Audrey ; Morsch, Marco ; Radford, Rowan ; Galper, Jasmin ; Freckleton, Sarah ; Shi, Bingyang ; Walker, Adam K. ; Don, Emily K. ; Cole, Nicholas J. ; Yang, Shu ; Williams, Kelly L. ; Yerbury, Justin J. ; Blair, Ian P. ; Atkin, Julie D. ; Molloy, Mark P. ; Chung, Roger S.
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2018-01, Vol.75 (2), p.335-354
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Author / Creator:Fuchs, Tania ; Gavarini, Sophie ; Saunders-Pullman, Rachel ; Raymond, Deborah ; Ehrlich, Michelle E ; Bressman, Susan B ; Ozelius, Laurie J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-03, Vol.41 (3), p.286-288
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia
Author / Creator:Cunningham, David ; Danley, Dennis E ; Geoghegan, Kieran F ; Griffor, Matthew C ; Hawkins, Julie L ; Subashi, Timothy A ; Varghese, Alison H ; Ammirati, Mark J ; Culp, Jeffrey S ; Hoth, Lise R ; Mansour, Mahmoud N ; McGrath, Katherine M ; Seddon, Andrew P ; Shenolikar, Shirish ; Stutzman-Engwall, Kim J ; Warren, Laurie C ; Xia, Donghui ; Qiu, Xiayang
Publisher:New York: Nature Publishing Group US
Journal title:Nature structural & molecular biology, 2007-05, Vol.14 (5), p.413-419
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
Author / Creator:Flanagan, Sarah E ; Patch, Ann-Marie ; Ellard, Sian
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing and molecular biomarkers, 2010-08, Vol.14 (4), p.533-537
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
The Polycomb complex PRC2 supports aberrant self-renewal in a mouse model of MLL-AF9;Nras(G12D) acute myeloid leukemia
Author / Creator:Shi, J ; Wang, E ; Zuber, J ; Rappaport, A ; Taylor, M ; Johns, C ; Lowe, S W ; Vakoc, C R
Publisher:England
Journal title:Oncogene, 2013-02, Vol.32 (7), p.930
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Author / Creator:Minde, David P ; Anvarian, Zeinab ; Rüdiger, Stefan Gd ; Maurice, Madelon M
Publisher:England: BioMed Central Ltd
Journal title:Molecular cancer, 2011-08, Vol.10 (1), p.101-101, Article 101
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
Author / Creator:Corrado, Lucia ; Del Bo, Roberto ; Castellotti, Barbara ; Ratti, Antonia ; Cereda, Cristina ; Penco, Silvana ; Sorarù, Gianni ; Carlomagno, Yari ; Ghezzi, Serena ; Pensato, Viviana ; Colombrita, Claudia ; Gagliardi, Stella ; Cozzi, Lorena ; Orsetti, Valeria ; Mancuso, Michelangelo ; Siciliano, Gabriele ; Mazzini, Letizia ; Comi, Giacomo Pietro ; Gellera, Cinzia ; Ceroni, Mauro ; D'Alfonso, Sandra ; Silani, Vincenzo
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-03, Vol.47 (3), p.190-194
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations
Author / Creator:Jin, Genglin ; Reitman, Zachary J ; Spasojevic, Ivan ; Batinic-Haberle, Ines ; Yang, Jian ; Schmidt-Kittler, Oleg ; Bigner, Darell D ; Yan, Hai
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e16812-e16812
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Epithelial tissues have varying degrees of susceptibility to Kras(G12D)-initiated tumorigenesis in a mouse model
Author / Creator:Ray, Kevin C ; Bell, Kayla M ; Yan, Jingbo ; Gu, Guoqiang ; Chung, Christine H ; Washington, M Kay ; Means, Anna L
Publisher:United States: Public Library of Science (PLoS)
Journal title:PloS one, 2011-02, Vol.6 (2), p.e16786
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
High frequency of β-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management
Author / Creator:Dômont, J ; Salas, S ; Lacroix, L ; Brouste, V ; Saulnier, P ; Terrier, P ; Ranchère, D ; Neuville, A ; Leroux, A ; Guillou, L ; Sciot, R ; Collin, F ; Dufresne, A ; Blay, J-Y ; Le Cesne, A ; Coindre, J-M ; Bonvalot, S ; Bénard, J
Publisher:London: Nature Publishing Group UK
Journal title:British journal of cancer, 2010-03, Vol.102 (6), p.1032-1036
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 102 results

Search the collection

Export record to excel

Export this record

Export record to excel

Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort

Export this record

Export record to excel

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

Export this record

Export record to excel

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Export this record

Export record to excel

Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein

Export this record

Export record to excel

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Export this record

Export record to excel

Clonal expansion and emergence of environmental multiple-triazole-resistant Aspergillus fumigatus strains carrying the TR₃₄/L98H mutations in the cyp51A gene in India

Export this record

Export record to excel

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

Export this record

Export record to excel

Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

Export this record

Export record to excel

Collateral fitness effects of mutations

Export this record

Export record to excel

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans

Export this record

Export record to excel

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

Export this record

Export record to excel

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Export this record

Export record to excel

Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia

Export this record

Export record to excel

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

Export this record

Export record to excel

The Polycomb complex PRC2 supports aberrant self-renewal in a mouse model of MLL-AF9;Nras(G12D) acute myeloid leukemia

Export this record

Export record to excel

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

Export this record

Export record to excel

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Export this record

Export record to excel

2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations

Export this record

Export record to excel

Epithelial tissues have varying degrees of susceptibility to Kras(G12D)-initiated tumorigenesis in a mouse model

Export this record

Export record to excel

High frequency of β-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management

Refine your search