Results for
""Mutation, Missense""[mesh_terms]

Functional residuomics - analyzing how missense mutations impact cellular systems.

Guangshuo Ou

Journal of cell science 2025;138(13):

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Janita Thusberg, Mauno Vihinen

Human mutation 2009;30(5):703-14

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.

Luca Parca, Shiping Zhang, Marie T Lott, Vincent Procaccio, Massimo Carella, Alessandro Napoli, Niccolò Liorni, Agnese Giovannetti, Tommaso Biagini, Francesco Petrizzelli, Angelo Luigi Vescovi, Salvatore Daniele Bianco, Viviana Caputo, Tommaso Mazza, Douglas C Wallace

Nature communications 2023;14(1):5058

ThermoMutDB: a thermodynamic database for missense mutations.

David B Ascher, Douglas E V Pires, João P L Velloso, Pâmela M Rezende, Stephanie Portelli, Malancha Karmarkar, Thanh-Binh Nguyen, Joicymara S Xavier

Nucleic acids research 2021;49(D1):D475-D479

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Koichiro Wasano, Takashi Kojima, Kazuaki Homma, Satoe Takahashi

International journal of molecular sciences 2024;25(5):

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Sumaiya Iqbal, Steffen Syrbe, Ute I Scholl, Eduardo Pérez-Palma, Rikke S Møller, Johannes R Lemke, Katrine M Johannesen, Patrick May, Andreas Brunklaus, Duncan S Palmer, David Baez-Nieto, Henrike O Heyne, Holger Lerche, Stephan Lauxmann, Dennis Lal, Mark J Daly, Jen Pan, Hao-Ran Wang, Arthur J Campbell

Science translational medicine 2021;12(556):eaay6848

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Vorasuk Shotelersuk, Thantrira Porntaveetus, Thanakorn Theerapanon, Natarin Caengprasath

Journal of translational medicine 2021;19(1):114

An Overview of the Genetics of Retinopathies, an Evolving Story.

Saoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster, Mital Shah, Jing Yu, Susan M Downes, Stephanie Halford

Genes 2022;12(8):1241

DHX37 and 46,XY DSD: A New Ribosomopathy?

Anu Bashamboo, Eric Pailhoux, Kenneth McElreavey

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2022;16(2-3):194-206

Integrating evidence from protein domains to identify cancer driver mutations.

Daria Ostroverkhova, Yiru Sheng, Igor Rogozin, Anna R Panchenko

Protein science : a publication of the Protein Society 2026;35(2):e70422

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

Anna Grandone, Vincenzo Nigro, Emanuele Miraglia Del Giudice, Silverio Perrotta, Annalaura Torella, Claudia Santoro, Giuseppina Gaudino, Giulio Piluso

European journal of medical genetics 2022;64(12):104358

Hemoglobin San Diego: A Case Report and Review of the Literature.

Matthew L Repp, Brandon McMahon

The American journal of case reports 2026;27():e951364

Computational Saturation Mutagenesis Reveals Pathogenic and Structural Impacts of Missense Mutations in Adducin Proteins.

Marina M J Romero-Prado, Jazmin Moreno Pereyda, Lennon Meléndez-Aranda

Genes 2025;16(8):

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

M Estela Rubio-Gozalbo, Leo J M Spaapen

Molecular genetics and metabolism 2003;78(2):93-9