Interpretable Dynamic Directed Graph Convolutional Network for Multi-Relational Prediction of Missense Mutation and Drug Response

Authors: Gao, Q., Xu, T., Li, X., Gao, W., Shi, H., Zhang, Y., Chen, J., Yue, Z.

Source: IEEE Journal of Biomedical and Health Informatics IEEE J. Biomed. Health Inform. Biomedical and Health Informatics, IEEE Journal of. 29(2):1514-1524 Feb, 2025

Impact of cysteine mutations on the structural dynamics and functional impairment of SOD1: insights into the pathogenicity of amyotrophic lateral sclerosis

Authors: Jessica Jeejan, Lawanya Rao, Shivank Sadasivan, Richa Lopes, Norine Dsouza

Source: Genomics & Informatics, Vol 23, Iss 1, Pp 1-13 (2025)

Subject Terms: ALS, Missense mutations, Neurodegenerative, SOD1, Dimerisation, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2234-0742

Access URL: https://doaj.org/article/d7c1cd086ead4d7aa3ba437ec45b1ec4

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Authors: G. G. Edel, M. van Kempen, A. Boerema-de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. Rottier

Source: Journal of Biomedical Science, Vol 31, Iss 1, Pp 1-17 (2024)

Subject Terms: FOXF1, Alveolar capillary dysplasia with misalignment of the pulmonary veins, ACD/MPV, DNA-binding domain, Missense mutations, Phosphorylation, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1423-0127

Access URL: https://doaj.org/article/64a93163d0b443069e918dece0926290

Molecular dynamics simulations involving different β-propeller mutations reported in Swiss and French patients correlate with their disease phenotypes

Authors: Finola Priyadharshini Chandrasekaran, Everette Jacob Remington Nelson

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

Subject Terms: αIIbβ3, Β-propeller, Missense mutations, Molecular docking, Molecular dynamics, Glanzmann Thrombasthenia, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/1c8366f51ae14188832fc7cf752632de

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma

Authors: David J. Taylor Gonzalez, MD, Mak B. Djulbegovic, MD, MSc, Meghan Sharma, MD, MPH, Michael Antonietti, BS, Colin K. Kim, BS, Vladimir N. Uversky, PhD, DSc, Carol L. Karp, MD, Carol L. Shields, MD, Matthew W. Wilson, MD

Source: Ophthalmology Science, Vol 5, Iss 3, Pp 100673- (2025)

Subject Terms: AlphaFold, AlphaMissense, ClinVar, COSMIC, Missense mutations, Uveal melanoma, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666914524002094; https://doaj.org/toc/2666-9145

Access URL: https://doaj.org/article/2e2ebdb129d64bdfac0ab77195a3e6e8

A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy

Authors: Pyankov, Ivan A. ^{a, b}, Gonay, Valentin ^{c, d}, Stepanov, Yaroslav A. ^a, Shestun, Pavel ^a, Kostareva, Anna A. ^e, Uspenskaya, Mayya V. ^{b, g}, Petukhov, Michael G. ^{f, g}, Kajava, Andrey V. ^{c, ⁎}

Source: In Journal of Structural Biology March 2025 217(1)

The novel use of the CFTR corrector C17 in muscular dystrophy: pharmacological profile and in vivo efficacy

Authors: Benetollo, Alberto ^a, Parrasia, Sofia ^b, Scano, Martina ^a, Biasutto, Lucia ^c, Rossa, Andrea ^d, Nogara, Leonardo ^e, Blaauw, Bert ^{a, e}, Dalla Barba, Francesco ^a, Caccin, Paola ^a, Carotti, Marcello ^a, Parolin, Alessandro ^a, Akyürek, Eylem Emek ^f, Sacchetto, Roberta ^f, Sandonà, Dorianna ^{a, ⁎}

Source: In Biochemical Pharmacology March 2025 233

Identification and molecular characterization of missense mutations in orphan G protein–coupled receptor GPR61 occurring in severe obesity

Authors: Tsang, Choi Har ¹, De Rosa, Alexander ^{1, 2}, Kozielewicz, Paweł ^{1, ∗}

Source: In Molecular Pharmacology February 2025

Phenotype of heterozygous familial hypercholesterolemia caused by deletion of LDLR gene exons 2-10: a case report

Authors: A. M. Moiseeva, O. N. Ivanova, V. S. Emelyanchik, E. Yu. Emelyanchik, O. V. Marilovtseva, S. Yu. Nikulina, A. V. Protopopov

Source: Российский кардиологический журнал, Vol 29, Iss 10S (2024)

Subject Terms: familial heterozygous hypercholesterolemia, cardiovascular risk, cascade screening for dyslipidemia, atherosclerosis, coronary artery disease, missense mutations, deletions, low-density lipoproteins., Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://russjcardiol.elpub.ru/jour/article/view/5927; https://doaj.org/toc/1560-4071; https://doaj.org/toc/2618-7620

Access URL: https://doaj.org/article/0b7a9a593f744c5babacb6907a92321c

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

Authors: Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Glutamatergic neurotransmission, Autism spectrum disorders, Synaptic dysfunction, Missense mutations, TRIO-related disorders, Mutation modeling, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/e04f25582550489b9b9369030d6873fe

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes

Authors: Chillón-Pino, Diego ¹, Badonyi, Mihaly ¹, Semple, Colin A. ¹, Marsh, Joseph A. ^{1, 2, ∗}

Source: In Cell Reports 26 November 2024 43(11)

Predicting Oncogenic Missense Mutations

Authors: Lei, Xue, Wang, Boshen, Perez-Rathke, Alan, Tian, Wei, Chou, Chia-Yi, Tseng, Yan-Yuan, Liang, Jie

Source: 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI) Biomedical & Health Informatics (BHI), 2019 IEEE EMBS International Conference on. :1-4 May, 2019

Relation: 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI)

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease

Authors: Teresa Brito-Robinson, Yetunde A. Ayinuola, Victoria A. Ploplis, Francis J. Castellino

Source: Frontiers in Cardiovascular Medicine, Vol 11 (2024)

Subject Terms: plasminogen, missense mutations, single nucleotide polymorphisms, plasminogen deficiencies, ligneous conjunctivitis, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2024.1406953/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/07cce74d2c0f4e3ead298489121629fe

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases

Authors: Eli Matsell, Jens Peter Andersen, Robert S. Molday

Source: Disease Models & Mechanisms, Vol 17, Iss 6 (2024)

Subject Terms: in silico protein stability, missense mutations, neurodevelopmental disease, p4-atpases, protein misfolding, disease mechanisms, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/17/6/dmm050546; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/f1839c52564b4545b4c39bc282eef3e1

Editorial: Advancing therapeutic strategies: exploring ABC transporters and chemicals affecting their expression and function for disease treatment

Authors: Guido Veit, Michinori Matsuo, Tsukasa Okiyoneda

Source: Frontiers in Pharmacology, Vol 15 (2024)

Subject Terms: ABC transporters, CFTR (cystic fibrosis transmembrane conductance regulator), pharmacological chaperones, missense mutations, premature termination codon (PTC), Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2024.1423979/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/7d9167ebf42f4eb493a4889e34ee602c

Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China

Authors: Mei Q, Xing F, Yin Y, Yuan C

Source: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 16, Pp 1325-1329 (2023)

Subject Terms: ppt, mvk, genetic testing, missense mutations, mevalonate pathway, Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.dovepress.com/case-report-a-novel-mvk-missense-mutation-in-the-sporadic-porokeratosi-peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

Access URL: https://doaj.org/article/7867c4256caf48f482395509918cd949

An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65

Authors: Giulio Poli, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi

Source: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1 (2023)

Subject Terms: RPE65, variant of uncertain significance (VUS), molecular dynamics, missense mutations, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

Access URL: https://doaj.org/article/7c89f3b7f8fb4854b84bd0e0b60daf9f

Adaptive laboratory evolution of Salmonella enterica in acid stress

Authors: Mrinalini Ghoshal, Tyler D. Bechtel, John G. Gibbons, Lynne McLandsborough

Source: Frontiers in Microbiology, Vol 14 (2023)

Subject Terms: Salmonella enterica, adaptive laboratory evolution (ALE), acetic acid stress adaptation, minimum inhibitory concentration (MIC), bacterial whole genome sequencing, missense mutations, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmicb.2023.1285421/full; https://doaj.org/toc/1664-302X

Access URL: https://doaj.org/article/c1e8b6be62d2468185610c3ea367f872

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations

Authors: Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi

Source: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 1765-1772 (2022)

Subject Terms: RPE65, variant of uncertain significance, molecular dynamics, missense mutations, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

Access URL: https://doaj.org/article/32ce20e5e4674bca8efb26b1a3d728b6

Case report: ALK D1225N missense mutation in lung adenocarcinoma responds to tyrosine kinase inhibitors

Authors: Jianxin Chen, Junhui Wang

Source: Frontiers in Pharmacology, Vol 14 (2023)

Subject Terms: ALK gene, missense mutations, tyrosine kinase inhibitors, lung adenocarcinoma, non-small-cell lung cancer, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2023.1190447/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/b0a7c3a93acd484ea9d20b10a8ca701d