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Types of Chromosome Mutations
Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied...
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Muscular Dystrophy: Mutations in the Dystrophin Gene
Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to...
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Heteromorphismes: Mutations in Non-Coding-DNA Regions
For a long time, the constitutive heterochromatin has been regarded as neglectable as to its significance of mutations in chromosome structure and...
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Genetic Mutations and Alternative Splicing in Schizophrenia
Genetic mutations are responsible for most neurogenetic disorders. Schizophrenia is a neurogenetic disorder; we focused on genetic mutations and...
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The Abundance of KRAS and RAS Gene Mutations in Cancer
Mutant forms of the RAS genes KRAS, NRAS, and HRAS are important and common drivers of cancer. Recently, two independent teams that integrated cancer...
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Histone Mutations and Cancer
This book focuses on histone mutations, especially those mutations closely related to cancer. Genetic mutations and epigenetic alterations contribute...
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Mitochondrial DNA Mutations in Cardiovascular Diseases
Early prevention of the development and timely diagnosis of cardiovascular system diseases are some of the main problems in modern cardiology. One...
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Lack of shared neoantigens in prevalent mutations in cancer
Tumors are mostly characterized by genetic instability, as result of mutations in surveillance mechanisms, such as DNA damage checkpoint, DNA repair...
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JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any...
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Pan-cancer atlas of somatic core and linker histone mutations
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes in cancer. However, the...
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Mitochondrial DNA mutations in Medulloblastoma
To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to...
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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HER2 mutations in advanced cervical neuroendocrine carcinoma: implications for trastuzumab deruxtecan therapy
Recent clinical evidence shows that the antibody-drug conjugate (ADC) trastuzumab deruxtecan (T-DXd) can successfully treat patients with advanced...
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In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
Paired homologous domain transcription factor 2 (PITX2) is critically involved in ocular and cardiac development. Mutations in PITX2 are consistently...
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RAS mutations in myeloid malignancies: revisiting old questions with novel insights and therapeutic perspectives
NRAS and KRAS activating point mutations are present in 10–30% of myeloid malignancies and are often associated with a proliferative phenotype. RAS ...
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Major genomic mutations driving hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is a subtype of highly malignant carcinoma that occurs in the liver, improved understanding of the mechanisms behind...
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Structure-Based Affinity Maturation of Antibody Based on Double-Point Mutations
Structure-based site-directed affinity maturation of antibodies can be expanded by multiple-point mutations to obtain various mutants. However,...
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Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
BackgroundGermline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 ( gBRCA1/2 ) are associated with elevated risk of breast cancer in...
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Single duplex DNA sequencing with CODEC detects mutations with high sensitivity
Detecting mutations from single DNA molecules is crucial in many fields but challenging. Next-generation sequencing (NGS) affords tremendous...
