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Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review
BackgroundCopy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years,...
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Assessing the histidine-rich protein 2/3 gene deletion in Plasmodium falciparum isolates from Burkina Faso
BackgroundDual hrp2/hrp3 genes deletions in P. falciparum isolates are increasingly reported in malaria-endemic countries and can produce false...
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A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline...
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Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
BackgroundX-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single...
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A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
The Silver–Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial...
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Deletions
Indication for chromosome analysis: Characteristic symptoms of the deletion 1p36.
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PHD2 deletion in endothelial or arterial smooth muscle cells reveals vascular cell type-specific responses in pulmonary hypertension and fibrosis
Hypoxia plays an important regulatory role in the vasculature to adjust blood flow to meet metabolic requirements. At the level of gene...
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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
AimsThere is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese...
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Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX
Haploinsufficiency of the s hort stature ho meobo x- containing ( SHOX ) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis...
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Transcriptome analysis of the cerebral cortex of acrylamide-exposed wild-type and IL-1β-knockout mice
Acrylamide is an environmental electrophile that has been produced in large amounts for many years. There is concern about the adverse health effects...
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Human Genetics of Semilunar Valve and Aortic Arch Anomalies
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause...
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Transcriptomic analysis reveals impact of gE/gI/TK deletions on host response to PRV infection
BackgroundPseudorabies virus (PRV) causes substantial losses in the swine industry worldwide. Attenuated PRV strains with deletions of...
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Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review
BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a...
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A replication-defective Japanese encephalitis virus (JEV) vaccine candidate with NS1 deletion confers dual protection against JEV and West Nile virus in mice
In our previous study, we have demonstrated in the context of WNV-ΔNS1 vaccine (a replication-defective West Nile virus (WNV) lacking NS1) that the...
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Chloroplast markers for the Malvaceae and the plastome of Henderson’s checkermallow (Sidalcea hendersonii S.Wats.), a rare plant from the Pacific Northwest
ObjectiveSidalcea is a genus of flowering plants restricted to the west coast of North America, commonly known as checkermallows. Remarkably, of the...
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Whole-genome sequencing and genetic characteristics of representative porcine reproductive and respiratory syndrome virus (PRRSV) isolates in Korea
BackgroundPorcine reproductive and respiratory syndrome virus (PRRSV) is a macrophage-tropic arterivirus with extremely high genetic and pathogenic...
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Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
BackgroundRing chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material....
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Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer
BackgroundLeptomeningeal metastases (LM) were rare in gastric cancer (GC), and GC patients with LM (GCLM) generally suffer from poor prognosis....
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Detection of Circulating Tumor DNA in Plasma Using Targeted Sequencing
Cell-free DNA (cfDNA) is the degradation product of extracellular DNA. Circulating tumor DNA (ctDNA), as a fraction of cfDNA, comes from tumor cells...
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A T follicular helper cell origin for T regulatory type 1 cells
Chronic antigenic stimulation can trigger the differentiation of antigen-experienced CD4 + T cells into T regulatory type 1 (TR1) cells, a subset of...
