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Gene copy number variants
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Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory.
13p
vibransone
28-03-2024
3
2
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Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.
15p
vibransone
28-03-2024
5
2
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Exon-targeted microarrays can detect small (
15p
vioraclene
31-03-2024
5
2
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Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
15p
vibransone
28-03-2024
3
2
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Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD).
26p
vibransone
28-03-2024
9
2
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Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is inherited in > 90% of cases from a mildly-affected parent.
21p
vibransone
28-03-2024
8
2
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Previous large-scale studies of de novo variants identified a number of genes associated with neurode‑ velopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size.
20p
viellison
28-03-2024
3
2
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Glioblastoma (GBM) is a type of highly malignant brain tumor that is known for its significant intratumoral heterogeneity, meaning that there can be a high degree of variability within the tumor tissue. Despite the identification of several subtypes of GBM in recent years, there remains to explore a classification based on genes related to proliferation and growth.
14p
vioracle
29-09-2023
5
3
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Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder.
16p
vinarcissa
21-03-2023
3
1
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Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities.
5p
vinarcissa
21-03-2023
6
1
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Primary congenital glaucoma (PCG) is an inherited ocular abnormality that is caused by mutation in CYP1B1 gene. Report of large deletion or gene copy number variants of CYP1B1 in PCG is uncommon. In this case report we describe a rare case of PCG with whole CYP1B1 deletion with implication for changes in detecting mutation of CYP1B1 gene.
5p
vipettigrew
15-03-2023
6
2
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Genomic rearrangements exert a heavy influence on the molecular landscape of cancer. New analytical approaches integrating somatic structural variants (SSVs) with altered gene features represent a framework by which we can assign global significance to a core set of genes, analogous to established methods that identify genes non-randomly targeted by somatic mutation or copy number alteration.
24p
vielonmusk
30-01-2022
16
0
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Aneuploidies are copy number variants that affect entire chromosomes. They are seen commonly in cancer, embryonic stem cells, human embryos, and in various trisomic diseases. Aneuploidies frequently affect only a subset of cells in a sample; this is known as “mosaic” aneuploidy. A cell that harbours an aneuploidy exhibits disrupted gene expression patterns which can alter its behaviour. However, detection of aneuploidies using conventional single-cell DNA-sequencing protocols is slow and expensive.
8p
vilarryellison
29-10-2021
15
1
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The common deletion of the glutathione S-transferase Mu 1 (GSTM1) gene in humans has been shown to be involved in xenobiotic metabolism and associated with bladder cancer. However, the evolution of this deletion has not been investigated.
12p
vibeauty
23-10-2021
7
1
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Gene copy number variants (CNVs), which consist of deletions and amplifications of single or sets of contiguous genes, contribute to the great diversity in the Plasmodium falciparum genome. In vitro studies in the laboratory have revealed their important role in parasite fitness phenotypes such as red cell invasion, transmissibility and cytoadherence. Studies of natural parasite populations indicate that CNVs are also common in the field and thus may facilitate adaptation of the parasite to its local environment.
15p
vibeauty
23-10-2021
10
0
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Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous cells, and identify genomic variations responsible for disease phenotypes.
15p
viwyoming2711
16-12-2020
12
1
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Using a genome-wide approach, we have previously observed an increase in the frequency of rare copy number variants (CNVs) in familial and early-onset breast cancer cases when compared to controls. Moreover, the biological networks of the CNV disrupted genes differed between the two groups.
7p
vilisa271
22-09-2020
14
0
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Gene variants are dependable and sensitive biomarkers for target-specific therapies in breast cancer (BC). However, detection of mutations within tissues has many limitations.
14p
vikuala271
13-06-2020
7
0
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Next-generation sequencing (NGS) is a high throughput sequencing technology, which has revolutionized both basic and clinical research of the human genetic disorders. This technology is also called massively parallel sequencing (MPS) due to its ability to generate a huge amount of output data in a cost- and time-effective manner. NGS is widely utilized for different sequencing applications such as targeted sequencing (a group of candidate genes), exome sequencing (all coding regions), and whole genome sequencing (the entire human genome).
14p
caygaocaolon1
13-11-2019
26
1
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There have been great strides in using positional cloning to successfully identify the underlying basis of many Mendelian disorders of children. The severity of even these disorders, however, is greatly affected by genetic modifiers and gene- environment interactions. The molecular pathogenesis of many more complex disorders remains unexplained due to the often complex genetic, epigenetic and environmental interactions involved in their etiology. However, there is reason for optimism.
14p
connhobinh
10-12-2012
53
1
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