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Topic Review
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood.
  • 1.1K
  • 23 Dec 2020
Topic Review
Polymicrogyria
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.
  • 1.1K
  • 24 Dec 2020
Topic Review
Epidermal Nevus
An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
  • 1.1K
  • 25 Dec 2020
Topic Review
Perry Syndrome
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
  • 1.1K
  • 24 Dec 2020
Topic Review
Fragile XE Syndrome
Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally.
  • 1.1K
  • 25 Dec 2020
Topic Review
ARAN-NM
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
  • 1.1K
  • 04 Jan 2021
Topic Review
Marker-Assisted Selection in Breeding for Fruit Trait Improvement
Fruit species breeding takes a lot of effort and time. Trees are probably the worst species to work with in terms of genetics and breeding, with very few exceptions. Large trees, protracted juvenile phases, intensive farming methods, and, despite vegetatively propagation, environmental variability play a significant role in the heritability assessments of each individual important trait. Fruit breeders frequently focus on traits specific to each species, including size, weight, sugar and acid content, ripening time, fruit storability, and post-harvest procedures. Tens of thousands of fruit genomes could be mined for sequence variants that could serve as molecular markers thanks to the availability of powerful software tools and updated sequencing techniques.
  • 1.1K
  • 05 Jun 2023
Topic Review
Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
  • 1.1K
  • 24 Dec 2020
Topic Review
Intervertebral Disc Disease
Intervertebral disc disease is a common condition characterized by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebrae), causing pain in the back or neck and frequently in the legs and arms. The intervertebral discs provide cushioning between vertebrae and absorb pressure put on the spine.
  • 1.1K
  • 31 Dec 2020
Topic Review
Genome Wide Association Studies
The identification and characterisation of genomic changes (variants) that can lead to human diseases is one of the central aims of biomedical research. In order to take on this challenging task, Genome-Wide Association Studies (GWAS) were proposed as a statistical method that could be used to identify the genomic variants that are associated with complex traits or diseases. GWAS do not require any previous biological knowledge on the analyzed trait, as they allow the simultaneous interrogation of millions of variants genome-wide. As a result, GWAS have been largely used, substantially contributing to the generation of catalogues of genetic variants that have an impact on specific diseases. GWAS results constitute nowadays the basis of Personalised Medicine, where diagnoses and treatment protocols are selected according to each patient’s profile.
  • 1.1K
  • 23 Dec 2021
Topic Review
16p11.2 deletion syndrome
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.  
  • 1.1K
  • 10 Apr 2021
Topic Review
Progressive Supranuclear Palsy
Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.
  • 1.1K
  • 24 Dec 2020
Topic Review
CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).
  • 1.1K
  • 04 Jan 2021
Topic Review
Pharmacogenomics
Pharmacogenomics (PGx) is the knowledge of diverse drug responses and effects in people, based on their genomic profiles.
  • 1.1K
  • 04 Jan 2021
Topic Review
CRISPR/Cas9 as a Promising Tool to Cure Blindness
CRISPR/Cas9 has been explored as an efficient therapeutic tool for the treatment of genetic diseases. It has been widely used in ophthalmology research by using mouse models to correct pathogenic mutations in the eye stem cells. CRISPR/Cas9 has been used to correct a large number of mutations related to inherited retinal disorders. In vivo therapeutic advantages for retinal diseases have been successfully achieved in some rodents. Advances in the CRISPR-based gene-editing domain, such as modified Cas variants and delivery approaches have optimized its application to treat blindness.
  • 1.1K
  • 20 Oct 2022
Topic Review
Common Rust in Maize Germplasm
To dissect the genetic architecture of Common rust (CR) resistance caused by Puccina sorghi in maize, we applied association mapping, in conjunction with linkage mapping, joint linkage association mapping (JLAM), and genomic prediction (GP) was conducted on an association-mapping panel and five F3 biparental populations using genotyping-by-sequencing (GBS) single-nucleotide polymorphisms (SNPs). Genome-wide association study (GWAS) analyses revealed 14 significant marker-trait associations which individually explained 6–10% of the total phenotypic variances. Individual population-based linkage analysis revealed 26 QTLs associated with CR resistance and together explained 14–40% of the total phenotypic variances. JLAM for the 921 F3 families from five populations detected 18 QTLs distributed in all chromosomes except on chromosome 8. These QTLs individually explained 0.3 to 3.1% and together explained 45% of the total phenotypic variance. Among the 18 QTL detected through JLAM, six QTLs, qCR1-78, qCR1-227, qCR3-172, qCR3-186, qCR4-171, and qCR7-137 were also detected in linkage mapping. GP within population revealed low to moderate correlations with a range from 0.19 to 0.51. Prediction correlation was high with r = 0.78 for combined analysis of the five F3 populations. Prediction of biparental populations by using association panel as training set reveals positive correlations ranging from 0.05 to 0.22, which encourages to develop an independent but related population as a training set which can be used to predict diverse but related populations. The findings of this study provide valuable information on understanding the genetic basis of CR resistance and the obtained information can be used for developing functional molecular markers for marker-assisted selection and for implementing GP to improve CR resistance in tropical maize.
  • 1.1K
  • 09 Sep 2020
Topic Review
Alcohol Use Disorder
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.
  • 1.1K
  • 24 Dec 2020
Topic Review
Single-Cell RNA Sequencing in eQTL Discovery
Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated by GWAS loci through expression quantitative trait locus (eQTL) analysis. eQTLs are divided into two types: cis- and trans-: cis-eQTLs are the genomic sequence variants located within a distance cutoff (for example, 1Mb upstream or downstream) of a target gene (the ‘eGene’) (a gene that has an associated eQTL) and correlate with its expression.  Single-cell RNA-Sequencing (scRNA-Seq) technologies have created new exciting opportunities for spatiotemporal assessment of changes in gene expression at the single-cell level in complex and inherited conditions.
  • 1.1K
  • 28 Mar 2022
Topic Review
17 Alpha-Hydroxylase/17,20-Lyase Deficiency
17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.
  • 1.1K
  • 23 Dec 2020
Topic Review
GRIN2B-Related Neurodevelopmental Disorder
GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system.
  • 1.1K
  • 23 Dec 2020
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