Papers matching “protein sequence analysis” 364
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P055 GPR43 and GPR84 play a crucial role in supporting perianal fistula formation and disease progression in Crohn’s Disease2024 Journal of Crohn s and Colitis conference-abstract Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Federica Rubbino, Alessio di Cristofaro, Samuel Elias Pineda Chavez, Marieke Heijink, Martin A. Giera, Annalisa Maroli, +8 more
0citations -
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sarah R. Senum, Ying Li, Katherine Angela Benson, Giancarlo Joli, Eric Gregory Olinger, Sravanthi Lavu, +22 more
180citations -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes2022 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Nasim Mavaddat, Leila Dorling, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, +85 more
171citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Doris Škorić‐Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, +48 more
18citations -
Display of functional nucleic acid polymerase on Escherichia coli surface and its application in directed polymerase evolution2020 Biotechnology and Bioengineering article Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization Open access
Mu‐En Chung, Kati Goroncy, Alisa Kolesnikova, David Schönauer, Ulrich Schwaneberg
8citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
Spatial Transcriptomics Reveals Injured Cells, Signature Genes, and Communication Patterns in the Cyst Microenvironment of Polycystic Kidney Disease2025 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sevtap A. Yasinoglu, Claudio Novella-Rausell, Lisanne E. Wisse, Kyra L. Dijkstra, Ahmed Essam Mahfouz, Hans J. Baelde, +1 more
1citations -
Loss of HIF1α signaling drives oxidative stress and expansion of smooth muscle cells in murine atherosclerosis2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Raúl Izquierdo-Serrano, Diana Sharysh, Vanessa Cumbicus, Pablo Hernansanz‐Agustín, Judith C. Sluimer, Silvia Martı́n-Puig, +3 more
0citations -
O-090 Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility2021 Human Reproduction conference-abstract Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering
Bieke Bekaert, Annekatrien Boel, Mina Popovic, P Stamatiadis, Susana M. Chuva de Sousa Lopes, Petra De Sutter, +4 more
0citations -
Single-Cell Roadmap of Early Hemato-Endothelial Development: Functions of Atf3, Zfp711 and Bcl6b2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Hematopoietic Stem Cell Transplantation Open access
Rıdvan Çeti̇n, Giulia Picco, Jente van Staalduinen, Eric M. Bindels, Remco Michiel Hoogenboezem, Gregory van Beek, +7 more
0citations -
WALDO: community-Wide Annotation of γδ Lymphocytes in single-cell Data, Openly benchmarked2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Farid Keramati, Moosa Rezwani, Likai Tan, David Hamilton, Zheng Song, Tao Yang, +10 more
0citations -
Splicing factors control triple-negative breast cancer cell mitosis through SUN2 interaction and sororin intron retention2021 Journal of Experimental & Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Esmee Koedoot, Eline van Steijn, Marjolein Vermeer, Román González‐Prieto, Alfred C.O. Vertegaal, John W.M. Martens, +2 more
73citations -
Expression of NK cell receptor ligands in primary colorectal cancer tissue in relation to the phenotype of circulating NK- and NKT cells, and clinical outcome2020 Molecular Immunology article Immunology and Microbiology Immune Cell Function and Interaction Open access
Daniëlle Krijgsman, Jessica P Roelands, Morten Nørgaard Andersen, Cornelia H.L.A. Wieringa, Rob A.�E.�M. Tollenaar, Wouter Hendrickx, +3 more
28citations -
Quantifying Positional Isomers (QPI) by Top-Down Mass Spectrometry2021 Molecular & Cellular Proteomics article Chemistry Advanced Proteomics Techniques and Applications Open access
Andrea M. Brunner, Philip Lössl, Paul P. Geurink, Huib Ovaa, Pascal Albanese, Maarten A. F. Altelaar, +2 more
7citations -
Editorial: Host-microbiota interactions in IBD: immune modulation and barrier function2026 Frontiers in Cellular and Infection Microbiology editorial Biochemistry, Genetics and Molecular Biology Gut microbiota and health Open access
Hongcai Li, Sagnik Nag, Grațiela Grădișteanu Pîrcălăbioru, Ralf Weiskirchen
1citations