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Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
BackgroundThe 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that...
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Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review
Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS...
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Inhibition of myeloid PD-L1 suppresses osteoclastogenesis and cancer bone metastasis
Programmed death-ligand 1 (PD-L1) is predominantly expressed in the antigen-presenting cells (APCs) that are originated and are abundant in the bone...
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Quality Control of an Isogenic H/N/KRAS-Less Mouse Embryonic Fibroblast Cell Line Panel
Isogenic H/N/KRAS-less mouse embryonic fibroblast (MEF) cell lines have been developed to assist in cell-based assays of RAS inhibitors. The quality...
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Methylation status of genes esca** from X-chromosome inactivation in patients with X-chromosome rearrangements
BackgroundX-chromosome inactivation (XCI) is a mechanism in which one of two X chromosomes in females is randomly inactivated in order to compensate...
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Ring Chromosome 3
Ring chromosome 3 (RC3) is an ultra-rare constitutional chromosomal abnormality and has been described in only 13 live-born patients since 1966....
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The receptor DNGR-1 signals for phagosomal rupture to promote cross-presentation of dead-cell-associated antigens
Type 1 conventional dendritic (cDC1) cells are necessary for cross-presentation of many viral and tumor antigens to CD8 + T cells. cDC1 cells can be...
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DNA-Schädigung und DNA-Reparatur
Dieses Kapitel beschreibt detaillierter die verschiedenen Arten von DNA-Schäden, die Mutationen und chromosomale Veränderungen verursachen können,...
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Systematic optimization of prime editing for the efficient functional correction of CFTR F508del in human airway epithelial cells
Prime editing (PE) enables precise and versatile genome editing without requiring double-stranded DNA breaks. Here we describe the systematic...
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Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability...
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Epithelial GPR35 protects from Citrobacter rodentium infection by preserving goblet cells and mucosal barrier integrity
Goblet cells secrete mucin to create a protective mucus layer against invasive bacterial infection and are therefore essential for maintaining...
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Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
BackgroundA rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an...
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Systematic assessment of ISWI subunits shows that NURF creates local accessibility for CTCF
Catalytic activity of the imitation switch (ISWI) family of remodelers is critical for nucleosomal organization and DNA binding of certain...
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The deletion of mutant SOD1 via CRISPR/Cas9/sgRNA prolongs survival in an amyotrophic lateral sclerosis mouse model
The superoxide dismutase 1 (SOD1) mutation is one of the most notable causes of amyotrophic lateral sclerosis (ALS), and modifying the mutant SOD1...
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A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D
Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an...
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Genome-wide analysis of cis-regulatory changes underlying metabolic adaptation of cavefish
Cis -regulatory changes are key drivers of adaptative evolution. However, their contribution to the metabolic adaptation of organisms is not well...
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Towards a single-assay approach: a combined DNA/RNA sequencing panel eliminates diagnostic redundancy and detects clinically-relevant fusions in neuropathology
Since the introduction of integrated histological and molecular diagnoses by the 2016 World Health Organization (WHO) Classification of Tumors of the...
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DNA Damage and DNA Repair
This chapter describes in more detail the various kinds of DNA damage that can cause mutations and chromosomal alterations as well as the...
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An intronic LINE-1 regulates IFNAR1 expression in human immune cells
BackgroundDespite their origins as selfish parasitic sequences, some transposons in the human genome have been co-opted to serve as regulatory...
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Pangenome analysis reveals genomic variations associated with domestication traits in broomcorn millet
Broomcorn millet ( Panicum miliaceum L.) is an orphan crop with the potential to improve cereal production and quality, and ensure food security. Here...
