Papers matching “protein sequence analysis” 364
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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack M. Fu, Michael E. Talkowski, +3 more
76citations -
Identification of SclB, a Zn(II)2Cys6 transcription factor involved in sclerotium formation in Aspergillus niger2020 Fungal Genetics and Biology article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access
Thomas R. Jørgensen, Anne‐Marie Burggraaf, Mark Arentshorst, Tabea Schütze, Gerda E. M. Lamers, Jing Niu, +8 more
19citations -
Mitochondrial genome-derived circRNAs: Orphan epigenetic regulators in molecular biology2024 Mitochondrion article Biochemistry, Genetics and Molecular Biology Circular RNAs in diseases Open access
Nima Sanadgol, Javad Amini, Roghayeh Khalseh, Arezoo Nikbin, Cordian Beyer, Adib Zendehdel
10citations -
Single-Cell-Multiomics Demonstrates Molecular Efficacy of a Clinical Lentiviral Vector for Gene Therapy of RPS19-Deficient Diamond-Blackfan Anemia2023 Blood conference-abstract Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research
Sofia Freiman, Jun Chen, Johan Flygare, Chayenne Kampman, Karin Pike‐Overzet, Alexander B. Mohseny, +6 more
1citations -
Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development2025 Developmental Neurobiology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Isa van der Veen, Céline Koster, Jacoline B. ten Brink, Maarten Kamermans, Camiel J. F. Boon
0citations -
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +56 more
67citations -
MGcount: a total RNA-seq quantification tool to address multi-mapping and multi-overlapping alignments ambiguity in non-coding transcripts2022 BMC Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access cited by 2 patents
Andrea Hita, Gilles Brocart, Marc Rehmsmeier, Anna Alemany, Sol Schvartzman
17citations -
Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Adrenal and Paraganglionic Tumors Open access
Alexandre Buffet, Juan Zhang, Heggert G. Rebel, Eleonora P.M. Corssmit, Jeroen C. Jansen, Erik Frans Hensen, +7 more
11citations -
A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor2022 Genes Chromosomes and Cancer article Medicine Musculoskeletal synovial abnormalities and treatments Open access
Astrid Lipplaa, Debora M. Meijer, Michiel A. J. van de Sande, Hans A. J. Gelderblom, Judith V.M.G. Bovée, Hailiang Mei, +1 more
7citations -
Deep-amplicon sequencing of the complete beta-tubulin gene in Trichuris trichiura before and after albendazole treatment2024 International Journal for Parasitology Drugs and Drug Resistance article Immunology and Microbiology Parasites and Host Interactions Open access
Javier Gandasegui, Berta Grau-Pujol, Valdemiro Novela, Osvaldo Muchisse, María Cambra-Pellejà, Anélsio Cossa, +9 more
3citations -
406 Prognostic relevance of the molecular endometrial cancer classification among patients staged by lymphadenectomy and/or without adjuvant treatment2021 Endometrial cancer conference-paper Medicine Endometrial and Cervical Cancer Treatments Open access
Alicia León‐Castillo, Nanda Horeweg, Elke E.M. Peters, Tessa A. Rutten, Natalja T. ter Haar, Vincent T.H.B.M. Smit, +7 more
1citations -
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +45 more
1citations -
Loss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Andrew J. McDonald, Carmen Gallego, Charlotte A. Andriessen, Ioannis Moustakas, Aat A. Mulder, +4 more
0citations -
Prior Venous Thromboembolism Defines Distinct Genetic and Molecular Phenotypes in Chronic Thromboembolic Pulmonary Hypertension2026 Arteriosclerosis Thrombosis and Vascular Biology article Medicine Pulmonary Hypertension Research and Treatments
Zhu Zhang, mengjie Duo, Xiaofan Ji, Bingzhang Zou, Haobo Li, Kuangxun Li, +22 more
0citations -
Molecular Classification of the PORTEC-3 Trial for High-Risk Endometrial Cancer: Impact on Prognosis and Benefit From Adjuvant Therapy2020 Journal of Clinical Oncology article Medicine Endometrial and Cervical Cancer Treatments Open access cited by 1 patent
Alicia León‐Castillo, Stephanie M. de Boer, Melanie E. B. Powell, Linda Mileshkin, Helen J MacKay, Alexandra F. Leary, +16 more
877citations -
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate Genes2020 Journal of Bone and Mineral Research article Biochemistry, Genetics and Molecular Biology Zebrafish Biomedical Research Applications Open access
Jan Willem Bek, Chen Shochat, Adelbert De Clercq, Hanna De Saffel, Annekatrien Boel, Juriaan R. Metz, +4 more
44citations