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Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 799
  • 23 Dec 2020
Topic Review
Huntington Disease
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
  • 799
  • 23 Dec 2020
Topic Review
Healthy Live Births after Transfer of Mosaic Embryos
The implementation of next generation sequencing (NGS) in preimplantation genetic testing for aneuploidy (PGT-A) has led to a higher prevalence of mosaic diagnosis within the trophectoderm (TE) sample. Regardless, mosaicism could potentially increase the rate of live-born children with chromosomic syndromes, though available data from the transfer of embryos with putative PGT-A mosaicism are scarce but reassuring. Even with lower implantation and higher miscarriage rates, mosaic embryos can develop into healthy live births. Therefore, this urges an explanation for the disappearance of aneuploid cells throughout development, to provide guidance in the management of mosaicism in clinical practice. Technical overestimation of mosaicism, together with some sort of “self-correction” mechanisms during the early post-implantation stages, emerged as potential explanations. Unlike the animal model, in which the elimination of genetically abnormal cells from the future fetal lineage has been demonstrated, in human embryos this capability remains unverified even though the germ layer displays an aneuploidy-induced cell death lineage preference with higher rates of apoptosis in the inner cell mass (ICM) than in the TE cells.
  • 799
  • 29 Feb 2024
Topic Review
Multiminicore Disease
Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.
  • 798
  • 23 Dec 2020
Topic Review
Neuroplastin in Neuropsychiatric Diseases
Molecular mechanisms underlying neuropsychiatric and neurodegenerative diseases are insufficiently elucidated. A detailed understanding of these mechanisms may help to further improve medical intervention. Recently, intellectual abilities, creativity, and amnesia have been associated with neuroplastin, a cell recognition glycoprotein of the immunoglobulin superfamily that participates in synapse formation and function and calcium signaling. Data from animal models suggest a role for neuroplastin in pathways affected in neuropsychiatric and neurodegenerative diseases. Neuroplastin loss or disruption of molecular pathways related to neuronal processes has been linked to various neurological diseases, including dementia, schizophrenia, and Alzheimer’s disease
  • 798
  • 28 Sep 2021
Topic Review
Gene Therapy Approaches for the Hemophilia B
In contrast to the standard enzyme-replacement therapy, administered from once per 7–14 days to 2–3 times a week in patients with severe hemophilia B, as a result of a single injection, gene therapy can restore F9 gene expression and maintain it for a prolonged time. In clinical research, the approach of delivering a functional copy of a gene using adeno-associated viral (AAV) vectors is widely used. The scientific community is actively researching possible modifications to improve delivery efficiency and expression. In preclinical studies, the possibility of genome editing using CRISPR/Cas9 technology for the treatment of hemophilia B is also being actively studied.
  • 798
  • 13 Jul 2023
Topic Review
Hyperlysinemia
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins.
  • 797
  • 23 Dec 2020
Topic Review
REN Gene
renin
  • 797
  • 23 Dec 2020
Topic Review
TBC1D24 Gene
TBC1 domain family member 24: The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear.
  • 797
  • 24 Dec 2020
Topic Review
TCN2 Gene
Transcobalamin 2: The TCN2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II).
  • 797
  • 24 Dec 2020
Topic Review
OPA3 Gene
OPA3, outer mitochondrial membrane lipid metabolism regulator
  • 797
  • 24 Dec 2020
Topic Review
Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
  • 797
  • 24 Dec 2020
Topic Review
GJB2 Gene
Gap junction protein beta 2
  • 797
  • 25 Dec 2020
Topic Review
GLDC Gene
Glycine Decarboxylase
  • 796
  • 23 Dec 2020
Topic Review
HCFC1 Gene
Host cell factor C1
  • 796
  • 22 Dec 2020
Topic Review
STIM1 Gene
stromal interaction molecule 1: The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). 
  • 796
  • 22 Dec 2020
Topic Review
MSH6 Gene
mutS homolog 6
  • 796
  • 23 Dec 2020
Topic Review
MYH7 Gene
myosin heavy chain 7
  • 796
  • 23 Dec 2020
Topic Review
SFTPC Gene
surfactant protein C
  • 796
  • 24 Dec 2020
Topic Review
XPA Gene
XPA, DNA damage recognition and repair factor: The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals.
  • 795
  • 24 Dec 2020
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