- Biomolecular condensate architecture of an autophagic cargo at molecular resolution in situ
2026/01/08 by Emily Boyle, Sergio Cruz-León, Javier Lizarrondo +10 · 2 voices
Biochemistry, Genetics and Molecular Biology · Medicine · #Amorphous solid #Autophagy in Disease and Therapy #Cellular transport and secretion #High resolution #In situ #Macromolecule #Molecular dynamics #Phase (matter) #Point mutation #Protein Structure and Dynamics #Sequence (biology)
- Genomic ALK alterations in primary and relapsed neuroblastoma
2023/02/17 by Carolina Rosswog, Jana Fassunke, Angela Ernst +23 · 29 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Adrenal and Paraganglionic Tumors #Anaplastic lymphoma kinase #Bioinformatics #Biology #Cancer research #Cancer, Hypoxia, and Metabolism #Crizotinib #Disease #Gene #Genetics #Internal medicine #Malignancy #Medicine #Mutation #Neuroblastoma #Neuroblastoma Research and Treatments #Oncology #Point mutation #Stage (stratigraphy)
- Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL
2017/11/29 by Sandrine Degryse, Simon Bornschein, Charles E. de Bock +10 · 23 citations
Medicine · #Acute Lymphoblastic Leukemia research #Biology #Chronic Myeloid Leukemia Treatments #Cytotoxic T cell #Gene #Genetics #In vitro #Interleukin 12 #Janus kinase 3 #Mutant #Mutation #Myeloproliferative Neoplasms: Diagnosis and Treatment #Point mutation #Wild type
- Site-Specific Disulfide Crosslinked Nucleosomes with Enhanced Stability
2017/11/04 by T.D. Frouws, Philip Barth, Timothy J. Richmond · 1 citation
Biochemistry, Genetics and Molecular Biology · Chemistry · #Advanced biosensing and bioanalysis techniques #Biochemistry #Biology #Biophysics #Chemistry #Crystallization #Crystallography #Cysteine #DNA #Dimer #Dissociation (chemistry) #Enzyme #Genomics and Chromatin Dynamics #Histone #Histone octamer #Linker DNA #Mutant #Nucleosome #Organic chemistry #Point mutation #RNA Interference and Gene Delivery
- Direct estimate of the spontaneous germ line mutation rate in African green monkeys
2017/10/25 by Susanne P. Pfeifer · 28 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Biology #Chromosomal and Genetic Variations #Demography #Ecology #Effective population size #Evolution and Genetic Dynamics #Evolutionary biology #Gene #Genetic diversity and population structure #Genetic variation #Genetics #Mutation #Mutation rate #Pedigree chart #Point mutation #Population #Primate
- Elevated germline mutation rate in teenage fathers
2015/02/18 by Peter Forster, Carsten Hohoff, Bettina Dunkelmann +4 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Evolution and Genetic Dynamics #CRISPR and Genetic Engineering #Germline #Germline mutation #Biology #Mutation rate #Sperm #Genetics #Mutation #Point mutation #Microsatellite #Germ cell #Gene #Allele
- Platelet GPIb: sensing force and responding
2015/01/15 by Zaverio M. Ruggeri · 10 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cancer research #Chronic Lymphocytic Leukemia Research #Gene #Genetics #Mutant #Mutation #PI3K/AKT/mTOR signaling in cancer #Platelet Disorders and Treatments #Point mutation #Protein kinase domain
- Defects in mitochondrial DNA replication and human disease
2011/12/16 by William C. Copeland · 2 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research #Mitochondrial DNA #Biology #Genetics #Point mutation #Mitochondrial disease #Human mitochondrial genetics #Mutation #Gene
- DNA Slippage Occurs at Microsatellite Loci without Minimal Threshold Length in Humans: A Comparative Genomic Approach
2010/05/19 by S. Leclercq, Éric Rivals, Philippe Jarne · 2 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #RNA and protein synthesis mechanisms #RNA Research and Splicing #Chromosomal and Genetic Variations #Indel #Microsatellite #Genetics #Tandem repeat #Biology #Mutation rate #Slippage #Genome #INDEL Mutation #Point mutation #Mutation #Single-nucleotide polymorphism #Gene
- Explaining the Imperfection of the Molecular Clock of Hominid Mitochondria
2009/12/28 by Eva-Liis Loogväli, Toomas Kivisild, Tõnu Margus +1 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genomics and Phylogenetic Studies #Genetic diversity and population structure #Molecular clock #Mitochondrial DNA #Biology #Mutation rate #Negative selection #Genetics #Synonymous substitution #Phylogenetic tree #Neutral theory of molecular evolution #Evolutionary biology #Mutation #Coding region #Molecular evolution #Effective population size #Population #Mutation Accumulation #Point mutation #Heteroplasmy #Gene #Genome #Genetic variation #Codon usage bias
- Molecular and Mesoscale Mechanisms of Osteogenesis Imperfecta Disease in Collagen Fibrils
2009/07/31 by Alfonso Gautieri, Sebastien G. M. Uzel, Sebastien Uzel +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · Chemistry · #Anatomy #Biology #Biophysics #Chemistry #Collagen fibril #Composite material #Connective tissue disorders research #Endocrinology #Fibril #Gene #Genetics #Intermolecular force #Materials science #Molecule #Mutation #Osteogenesis imperfecta #Phenotype #Point mutation #Stiffness #Type I collagen
- Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation
2009/07/08 by François Balloux, Lori Lawson Handley, Thibaut Jombart +2 · 4 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolomics and Mass Spectrometry Studies #Evolution and Genetic Dynamics #Mitochondrial DNA #Biology #Natural selection #Genetics #Evolutionary biology #Genetic variation #Genetic diversity #Point mutation #Selection (genetic algorithm) #Human mitochondrial genetics #Human genetic variation #Mutation #Gene #Population #Genome #Human genome #Demography
- A Point Mutation, E95D, in the Mumps Virus V Protein Disengages STAT3 Targeting from STAT1 Targeting
2009/04/23 by Mamta Puri, Ken Lemon, W. Paul Duprex +2 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cancer research #Cell biology #Gene #Genetics #Molecular biology #Mumps virus #Mutation #Point mutation #STAT1 #STAT3 #Signal transduction #Virology #Virology and Viral Diseases #Virus #Virus-based gene therapy research #vaccines and immunoinformatics approaches
- Frequency and Pattern of Heteroplasmy in the Control Region of Human Mitochondrial DNA
2008/07/10 by Cristina Santos, Blanca Sierra, Luis Álvarez +6 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Biology #Demography #Evolutionary biology #Forensic and Genetic Research #Gene #Genetics #Genomics and Phylogenetic Studies #Genotype #Haplotype #Heteroplasmy #Hypervariable region #Mitochondrial DNA #Mitochondrial Function and Pathology #Mutation #Point mutation #Population #mtDNA control region
- Novel Mitochondrial DNA Length Variants and Genetic Instability in a Family with Diabetes and Deafness
2006/05/17 by George M. C. Janssen, Axel Neu, Leen M. ‘t Hart +2 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #RNA modifications and cancer #Heteroplasmy #Mitochondrial DNA #Point mutation #Genetics #Biology #Proband #Mutation #Intergenic region #Molecular biology #Gene #Genome
- Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases
2005/04/29 by Takehiro Yasukawa, Yohei Kirino, Norie Ishii +8 · 23 citations
Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Biochemistry #Biology #Gene #Genetics #Human mitochondrial genetics #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial disease #Molecular biology #Mutant #Point mutation #RNA #RNA modifications and cancer #Speed wobble #Transfer RNA #Uridine #Wobble base pair
- Point mutations confer loss of ATP‐induced human P2X7 receptor function
2002/01/04 by Rebecca A. Worthington, R.A. Worthington, M.L. Smart +11 · 13 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Health Professions · Medicine · #Adenosine and Purinergic Signaling #Adenosine triphosphate #Adolescent and Pediatric Healthcare #Biochemistry #Biology #Biophysics #Bipolar Disorder and Treatment #Cell biology #Chemistry #Gene #HEK 293 cells #Molecular biology #Mutant #Point mutation #Receptor #Transfection #Wild type #Xenopus
- Bisalbuminuria in an adult with bisalbuminemia and nephrotic syndrome
1999/06/01 by Mai P. Hoang, Mai P Hoang, Leland B Baskin +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · Nursing · #Agarose #Agarose gel electrophoresis #Albumin #Biochemistry #Chemistry #DNA #Drug Transport and Resistance Mechanisms #Endocrinology #Hormone #Internal medicine #Kidney #Medicine #Mutation #Nephrotic syndrome #Point mutation #Population #Protein Interaction Studies and Fluorescence Analysis #Proteinuria #Serum albumin #Trace Elements in Health
- Mutations in Exon 11 of c-Kit Occur Preferentially in Malignant versus Benign Gastrointestinal Stromal Tumors and Do Not Occur in Leiomyomas or Leiomyosarcomas
1999/01/01 by Jerzy Lasota, Marek Jasiński, Marek Jasinski +3 · 30 citations
Immunology and Microbiology · Medicine · #Biology #CD117 #CD34 #Cancer research #Exon #Gastrointestinal Tumor Research and Treatment #Gastrointestinal tract #Gene #Genetics #Germline mutation #GiST #Immunohistochemistry #Leiomyoma #Leiomyosarcoma #Mast cells and histamine #Medicine #Mutation #Pathology #Platelet Disorders and Treatments #Point mutation #Smooth Muscle Tumor #Stromal cell #Stromal tumor
- Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure
1998/05/01 by Timothy M. Olson, Virginia V. Michels, Stephen N. Thibodeau +2 · 5 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Cardiomyopathy and Myosin Studies #Viral Infections and Immunology Research #Muscle Physiology and Disorders #Missense mutation #Dilated cardiomyopathy #Heart failure #Actin #Mutation #Dystrophin #Cardiomyopathy #Genetics #Biology #Point mutation #Gene #Internal medicine #Cardiology #Medicine
- MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
1995/05/01 by L. Vergani, Lodovica Vergani, A. Martinuzzi +12 · 14 citations
Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Biology #Gene #Genetics #Leber's hereditary optic neuropathy #Missense mutation #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial respiratory chain #Mitochondrion #Molecular biology #Mutation #Photosynthetic Processes and Mechanisms #Point mutation #Respiratory chain
- DNA shuffling by random fragmentation and reassembly: in vitro recombination for molecular evolution.
1994/10/25 by Willem PC Stemmer · 1 citation
Biochemistry, Genetics and Molecular Biology · #RNA and protein synthesis mechanisms #CRISPR and Genetic Engineering #Bacterial Genetics and Biotechnology #DNA shuffling #In vitro recombination #Biology #Genetics #Gene #Molecular evolution #Oligonucleotide #Mutagenesis #FLP-FRT recombination #DNA #Homologous recombination #Point mutation #Recombination #Plasmid #Molecular biology #Genetic recombination #Directed evolution #Mutant #Molecular cloning #Genome #Peptide sequence
- Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)
1990/05/01 by JC Deybach, Hubert de Verneuil, Samia Boulechfar +2 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Endocrinology #Gene #Genetics #Heme Oxygenase-1 and Carbon Monoxide #Molecular biology #Mutation #Neonatal Health and Biochemistry #Point mutation #Porphyria #Porphyrin Metabolism and Disorders
- LENGTH MUTATIONS IN HUMAN MITOCHONDRIAL DNA
1983/08/01 by Rebecca L. Cann, Allan C. Wilson · 9 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #Genomics and Phylogenetic Studies #Biology #Mitochondrial DNA #Genetics #Mutation rate #Point mutation #Coding region #Phylogenetic tree #Mutation #Noncoding DNA #DNA #Sequence (biology) #DNA sequencing #Genome #Gene