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All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
MEN1 Gene
menin 1
  • 698
  • 22 Dec 2020
Topic Review
NLRP1 Gene
NLR family pyrin domain containing 1
  • 698
  • 23 Dec 2020
Topic Review
Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
  • 698
  • 23 Dec 2020
Topic Review
Neuropathy, Ataxia, and Retinitis Pigmentosa
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system.
  • 698
  • 24 Dec 2020
Topic Review
ANO5 Gene
anoctamin 5
  • 698
  • 24 Dec 2020
Topic Review
CDH23 Gene
cadherin related 23
  • 698
  • 24 Dec 2020
Topic Review
Genomic Instability Evolutionary Footprints on Human Health
Genomic instability comprises not only the accumulation of mutations but also telomeric shortening, epigenetic alterations and other mechanisms that could contribute to genomic information conservation or corruption. 
  • 698
  • 30 Aug 2023
Topic Review
Features and Functions of Alternative Exon Splicing Events
Manipulation using alternative exon splicing (AES), alternative transcription start (ATS), and alternative polyadenylation (APA) sites are key to transcript diversity underlying health and disease. All three are pervasive in organisms, present in at least 50% of human protein-coding genes. These RNA variants have been shown to be highly specific, both in tissue type and stage, with demonstrated importance to cell proliferation, differentiation and the transition from fetal to adult cells. While alternative exon splicing has a limited effect on protein identity, its ubiquity highlights the importance of these minor alterations, which can alter other features such as localization.
  • 698
  • 17 Nov 2023
Topic Review
Other Histone Modifications Dynamics in Early Embryonic Development
Mammalian fertilization initiates the reprogramming of oocytes and sperm, forming a totipotent zygote. During this intricate process, the zygotic genome undergoes a maternal-to-zygotic transition (MZT) and subsequent zygotic genome activation (ZGA), marking the initiation of transcriptional control and gene expression post-fertilization. Histone modifications are pivotal in shaping cellular identity and gene expression in many mammals. 
  • 698
  • 30 Jan 2024
Topic Review
Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues.
  • 697
  • 23 Dec 2020
Topic Review
Inclusion Body Myopathy 2
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
  • 697
  • 23 Dec 2020
Topic Review
SCNN1G Gene
sodium channel epithelial 1 gamma subunit
  • 697
  • 24 Dec 2020
Topic Review
Transcription–Replication Coordination
Transcription and replication are the two most essential processes that a cell does with its DNA: they allow cells to express the genomic content that is required for their functions and to create a perfect copy of this genomic information to pass on to the daughter cells. Nevertheless, these two processes are in a constant ambivalent relationship. When transcription and replication occupy the same regions, there is the possibility of conflicts between transcription and replication as transcription can impair DNA replication progression leading to increased DNA damage. Nevertheless, DNA replication origins are preferentially located in open chromatin next to actively transcribed regions, meaning that the possibility of conflicts is potentially an accepted incident for cells. Data in the literature point both towards the existence or not of coordination between these two processes to avoid the danger of collisions.
  • 697
  • 27 Jan 2022
Topic Review
WDR35 Gene
WD repeat domain 35.
  • 696
  • 24 Dec 2020
Topic Review
PDGFRA-Associated Chronic Eosinophilic Leukemia
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.
  • 696
  • 24 Dec 2020
Topic Review
Aloysia Citrodora Essential Oil
Patients diagnosed with melanoma have a poor prognosis due to regional invasion and metastases. The receptor tyrosine kinase epidermal growth factor receptor (EGFR) is found in a subtype of melanoma with a poor prognosis and contributes to drug resistance. Aloysia citrodora essential oil (ALOC-EO) possesses an antitumor effect. Understanding signaling pathways that contribute to the antitumor of ALOC-EO is important to identify novel tumor types that can be targeted by ALOC-EO. 
  • 696
  • 20 Aug 2021
Topic Review
HFE Gene
Homeostatic iron regulator
  • 695
  • 22 Dec 2020
Topic Review
KCNQ3 Gene
Potassium voltage-gated channel subfamily Q member 3
  • 695
  • 23 Dec 2020
Topic Review
PURA Gene
purine rich element binding protein A
  • 695
  • 23 Dec 2020
Topic Review
CLCNKA Gene
chloride voltage-gated channel Ka
  • 695
  • 24 Dec 2020
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