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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.
  • 1.2K
  • 20 Oct 2022
Topic Review
Increased Crop Genetic Diversity in the Fields
Crop genetic diversity is the most important factor for a long-term sustainable production system. Breeding and production strategies for developing and growing uniform and homogenous varieties have created many problems. Such populations are static and very sensitive to unpredictable stresses.
  • 1.2K
  • 09 May 2023
Topic Review
Major Depressive Disorder
        Despite the extensive research conducted in the last decades, the molecular mechanisms underlying major depressive disorder (MDD) and relative evidence-based treatments remain unclear. Various hypotheses have been successively proposed, involving different biological systems. This narrative review aims to critically illustrate the main pathogenic hypotheses of MDD, ranging from the historical ones based on the monoaminergic and neurotrophic theories, through the subsequent neurodevelopmental, glutamatergic, GABAergic, inflammatory/immune and endocrine explanations, until the most recent evidence postulating a role for fatty acids and the gut microbiota. Moreover, the molecular effects of established both pharmacological and non-pharmacological approaches for MDD are also reviewed. Overall, the existing literature indicates that the molecular mechanisms described in the context of these different hypotheses, rather than representing alternatives one to each other, are likely to contribute together, often with reciprocal interactions, to the development of MDD and to the effectiveness of treatments, and points at the need for further research efforts in this field. 
  • 1.1K
  • 26 Oct 2020
Topic Review
Mayer-Rokitansky-Küster-Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system.
  • 1.1K
  • 23 Dec 2020
Topic Review
X-linked Intellectual Disability, Siderius Type
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.  
  • 1.1K
  • 24 Dec 2020
Topic Review
Suprabasin
Among the ~22,000 human genes, very few remain that have unknown functions. One such ex-ample is suprabasin (SBSN). Originally described as a component of the cornified envelope, the function of stratified epithelia-expressed SBSN is unknown. Both the lack of knowledge about the gene role under physiological conditions and the emerging link of SBSN to various human diseas-es, including cancer, attract research interest. The association of SBSN expression with poor prognosis of patients suffering from oesophageal carcinoma, glioblastoma multiforme, and myel-odysplastic syndromes suggests that SBSN may play a role in human tumourigenesis. Three SBSN isoforms code for the secreted proteins with putative function as signalling molecules, yet with poorly described effects.
  • 1.1K
  • 03 Feb 2021
Topic Review
DSP Gene
Desmoplakin: The DSP gene provides instructions for making a protein called desmoplakin. 
  • 1.1K
  • 24 Dec 2020
Topic Review
Gene Amplification
Oncogene amplification is closely linked to the pathogenesis of a broad spectrum of human malignant tumors. The amplified genes localize either to the extrachromosomal circular DNA, which has been referred to as cytogenetically visible double minutes (DMs), or submicroscopic episome, or to the chromosomal homogeneously staining region (HSR). The extrachromosomal circle from a chromosome arm can initiate gene amplification, resulting in the formation of DMs or HSR, if it had a sequence element required for replication initiation (the replication initiation region/matrix attachment region; the IR/MAR), under a genetic background that permits gene amplification.
  • 1.1K
  • 12 Oct 2021
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
Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.  
  • 1.1K
  • 23 Dec 2020
Topic Review
BCOR Gene
BCL6 corepressor
  • 1.1K
  • 24 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
Electrocochleography in Auditory Neuropathy
Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underlying mechanisms include both pre-synaptic and post-synaptic damage involving inner hair cell (IHC) depolarization, neurotransmitter release, spike initiation in auditory nerve terminals, loss of auditory fibers and impaired conduction. In contrast, outer hair cell (OHC) activities (otoacoustic emissions [OAEs] and cochlear microphonic [CM]) are normal. Disordered synchrony of auditory nerve activity has been suggested as the basis of both the alterations of auditory brainstem responses (ABRs) and reduction of speech perception. Authors will review how electrocochleography (ECochG) recordings provide detailed information to help objectively define the sites of auditory neural dysfunction and their effect on receptor summating potential (SP) and neural compound action potential (CAP), the latter reflecting disorders of ribbon synapses and auditory nerve fibers.
  • 1.1K
  • 30 Jan 2022
Topic Review
Mitochondrial Complex V Deficiency
Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.
  • 1.1K
  • 23 Dec 2020
Topic Review
HBA1 Gene
Hemoglobin subunit alpha 1
  • 1.1K
  • 22 Dec 2020
Topic Review
TMEM127 Gene
Transmembrane protein 127 (TMEM 127): Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma).
  • 1.1K
  • 25 Dec 2020
Topic Review
European Mink Mustela lutreola L.,1761
European mink Mustela lutreola L., 1761 is considered one of the most endangered mammalian species in the world, due to its ongoing population depletion, both in terms of the actual number of individuals and area occupied. The species was originally spread over most of continental Europe, but nowadays only three wild, isolated, declining populations occupying less than 3% of the former range survive with only about 5000 individuals are estimated persisted in the wild. The alarming situation of the species is proven by its categorization as critically endangered (CR) by the International Union for Conservation of Nature (IUCN) Red List of Threatened Species, and it is listed in Annex II to the Bern Convention on the Conservation of European Wildlife and Natural Habitats, Annexes II and IV (priority species) of the Council Directive 92/43/EEC on the conservation of natural habitats and of wild fauna and flora, and in The Carpathian List of Endangered Species (critically endangered species (CR)). Despite this, studies in the field of genetics of M. lutreola are limited and urgently need to be completed, especially in the context of the progressing extinction process and the disappearance of its numerous populations in France, Belarus, and Russia, among others. The rapidly shrinking and vanishing genetic resources will largely never be studied and described, which is an irreversible loss from cognitive and practical points of view. The meagre data on interpopulation genetic diversity may significantly impair the efficacy of the implemented activities for restitution of the European mink, especially in the context of conservation breeding and species reintroduction. Notably, only (conservation) genetics can provide tools to rescue species affected by the extinction vortex, which, in turn, requires more research initiatives in the conservation genetics of the European mink.
  • 1.1K
  • 20 Nov 2020
Topic Review
Achondroplasia
Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.
  • 1.1K
  • 23 Dec 2020
Topic Review
Myofibrillar Myopathy
Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.
  • 1.1K
  • 23 Dec 2020
Topic Review
Complement Factor I Deficiency
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.
  • 1.1K
  • 24 Dec 2020
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