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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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Partial GCK gene deletion mutations causing maturity-onset diabetes of the young
AimsMaturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes, and glucokinase-maturity-onset diabetes of the...
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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial...
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Resumption in Igbo: Two types of resumptives, complex phi-mismatches, and dynamic deletion domains
This paper investigates the morphosyntax of resumption in Igbo (Benue-Congo). The first part addresses the syntax and argues that Igbo has two types...
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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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Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
Background2q37 microdeletion syndrome is a rare clinical condition characterized by a series of physical abnormalities. Its Albright hereditary...
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TAD border deletion at the Kit locus causes tissue-specific ectopic activation of a neighboring gene
Topologically associated domains (TADs) restrict promoter-enhancer interactions, thereby maintaining the spatiotemporal pattern of gene activity....
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The mitochondrial DNA common deletion as a potential biomarker of cancer-associated fibroblasts from skin basal and squamous cell carcinomas
Cancer-associated fibroblasts (CAFs) are components of the tumor microenvironment and represent appealing therapeutic targets for translational...
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Cftr deletion in mouse epithelial and immune cells differentially influence the intestinal microbiota
Cystic fibrosis (CF) is a life-threatening genetic disorder, caused by mutations in the CF transmembrane-conductance regulator gene ( cftr ) that...
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TRPC5 deletion in the central amygdala antagonizes high-fat diet-induced obesity by increasing sympathetic innervation
Transient receptor potential channel 5 (TRPC5) is predominantly distributed in the brain, especially in the central amygdala (CeA), which is closely...
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Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients
BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and...
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On the generative capacity of matrix insertion-deletion systems of small sum-norm
A matrix insertion-deletion system (or matrix ins-del system) is described by a set of insertion-deletion rules presented in matrix form, which...
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Deletion of the XIST promoter from the human inactive X chromosome compromises polycomb heterochromatin maintenance
Silencing most gene expression from all but one X chromosome in female mammals provides a means to overcome X-linked gene expression imbalances with...
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Unraveling the role of **st in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A
X chromosome inactivation (XCI) is a process that equalizes the expression of X-linked genes between males and females. It relies on **st ,...
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Assessment of Cytogenetic Findings and Risk Factors in Females with Primary Amenorrhea
Primary amenorrhea (PA) is a heterogenous condition with multifactorial etiologies and cannot be established with single diagnostic criterion. We...
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Detection of UV-Induced Deletions in Mitochondrial DNA
Mitochondrial DNA (mtDNA) mutations are found in several human pathologies and are associated with aging. Deletion mutations in mtDNA result in the...
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Fixed-Treewidth-Efficient Algorithms for Edge-Deletion to Interval Graph Classes
For a graph class \(\mathcal {C}\) ,...
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Single Cell Analysis of Mitochondrial DNA Deletions
Mitochondrial DNA (mtDNA) deletions underpin mitochondrial dysfunction in human tissues in aging and disease. The multicopy nature of the...
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Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO
BackgroundMitochondrial disorders are clinically heterogeneous diseases associated with impaired oxidative phosphorylation (OXPHOS) activity. POLG ,...
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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...
