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Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues
Acquired Ring Chromosomes (aRCs) are observed in various oncologic diseases. This chapter systematically curates the types of aRCs observed in...
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Urban emergence of Dermanyssus gallinae lineage L1 and Ornithonyssus sylviarum in Hungary: phylogenetic differentiation between the roles of migrating vs transported synanthropic birds
BackgroundAmong Dermanyssoidea, the chicken red mite ( Dermanyssus gallinae ) and the northern fowl mite ( Ornithonyssus sylviarum ) are considered to...
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Knockout mice with pituitary malformations help identify human cases of hypopituitarism
BackgroundCongenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects...
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AR Structural Variants and Prostate Cancer
Therapeutic interventions for advanced castration-resistant prostate cancer (CRPC) are focused on inhibiting the androgen receptor (AR) through...
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Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
Background1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and...
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Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability
BackgroundThe U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM - MLLT10 fusion gene formed by the recurrent...
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The role of chromatin loop extrusion in antibody diversification
Cohesin mediates chromatin loop formation across the genome by extruding chromatin between convergently oriented CTCF-binding elements. Recent...
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MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer
BackgroundThe long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 ( MALAT1 ) is a cancer biomarker. Furthermore, fusion of the MALAT1...
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History and Diversity: Establishing a Context for Helminth Biology
Over the years, we have come to recognize that evolution is a dynamic process and a fundamental organizing principle for exploring diversity and the...
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Evolution of multiple sex-chromosomes associated with dynamic genome reshuffling in Leptidea wood-white butterflies
Sex-chromosome systems tend to be highly conserved and knowledge about their evolution typically comes from macroevolutionary inference. Rapidly...
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History of Rabies in the United States
The history of rabies in the United States is intricately associated with the peoples who settled the land and their knowledge and beliefs about the...
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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
Dystrophinopathy is caused by alterations in DMD . Approximately 1% of patients remain genetically undiagnosed, because intronic variations are not...
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RUNX1 upregulation via disruption of long-range transcriptional control by a novel t(5;21)(q13;q22) translocation in acute myeloid leukemia
RUNX1 encodes a Runt-related transcription factor that is critical for hematopoiesis. In this study, through a combinatorial molecular approach, we...
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Cytogenetic profile of 1791 adult acute myeloid leukemia in India
BackgroundCytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for...
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Acute promyelocytic leukemia current treatment algorithms
In 1957, Hillestad et al. defined acute promyelocytic leukemia (APL) for the first time in the literature as a distinct type of acute myeloid...
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Translating genomic advances into biodiversity conservation
A key action of the new Global Biodiversity Framework is the maintenance of genetic diversity in all species to safeguard their adaptive potential....
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SNPs and Personalized Medicine: Scrutinizing Pathogenic Synonymous Mutations for Precision Oncology
Synonymous mutations do not modify the encoded amino acid, but might result in serious non-silent consequences through different molecular...
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Ring Chromosome 6
Ring chromosome 6 (RC6) is a rare constitutional structural abnormality that generally occurs during meiosis or early post-zygotic mitosis. Most of...
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Biosynthesis of Bacterial Polysaccharides
The present chapter is devoted to biosynthesis pathways of various bacterial surface polysaccharides, including slime exopolysaccharides and capsular...
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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
BackgroundTemple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to...
