Search
Search Results
-
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome
Chromosome stability is a key point in genome evolution, particularly that of the Y chromosome. The Y chromosome loss in blood and tumor cells is...
-
Characteristics and clinical evaluation of X chromosome translocations
BackgroundIndividuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific...
-
A Paradoxical Role for Somatic Chromosomal Mosaicism and Chromosome Instability in Cancer: Theoretical and Technological Aspects
Somatic chromosomal mosaicism, chromosome instability, and cancer are intimately linked together. Addressing the role of somatic genome variations...
-
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings
BackgroundNoninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for...
-
Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns
Whole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly...
-
B Chromosome Variability in Plants and Animals under Extreme Environments
AbstractData on B chromosomes in populations of different systematic groups of plants and animals from extreme habitats, i.e., the range boundaries...
-
iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy
Induced pluripotent stem cells (iPSCs) are beneficial for studying of chromosomal diseases, including ring chromosomes (RCs), because iPSCs can be...
-
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of...
-
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature
BackgroundPremature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most...
-
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in cancer. Based on large-scale DNA sequencing of human tumours, the...
-
Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers
BackgroundSomatic copy number alterations are a hallmark of cancer that offer unique opportunities for therapeutic exploitation. Here, we focused on...
-
An update and frequency distribution of Y chromosome haplogroups in modern Japanese males
Japanese males belong to the Y chromosome C1a1, C2, D1a2a, D1a2a-12f2b, O1b2, O1b2a1a1, O2a2b1, and O2a1b haplogroups. Notably, the regional...
-
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia,...
-
X chromosome dosage and the genetic impact across human tissues
BackgroundSex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood...
-
Cohesin and CTCF control the dynamics of chromosome folding
In mammals, interactions between sequences within topologically associating domains enable control of gene expression across large genomic distances....
-
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
BackgroundXq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and...
-
High-resolution genome-wide map** of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing
Clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR-associated protein 9 (Cas9) is a powerful tool for introducing targeted...
-
Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present...
-
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after...
-
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been...
