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Topic Review
MT-ND4L Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
  • 646
  • 23 Dec 2020
Topic Review
NBEAL2 Gene
neurobeachin like 2
  • 646
  • 23 Dec 2020
Topic Review
PRKAG2 Gene
protein kinase AMP-activated non-catalytic subunit gamma 2
  • 645
  • 22 Dec 2020
Topic Review
MYO5A Gene
myosin VA
  • 645
  • 23 Dec 2020
Topic Review
NCSTN Gene
nicastrin
  • 645
  • 23 Dec 2020
Topic Review
MKRN3 Gene
makorin ring finger protein 3
  • 644
  • 22 Dec 2020
Topic Review
PROS1 Gene
protein S
  • 644
  • 22 Dec 2020
Topic Review
ITPR1 Gene
Inositol 1,4,5-trisphosphate receptor type 1
  • 644
  • 23 Dec 2020
Topic Review
MECP2 Duplication Syndrome
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.
  • 644
  • 24 Dec 2020
Topic Review
ERCC3 Gene
ERCC excision repair 3, TFIIH core complex helicase subunit
  • 644
  • 24 Dec 2020
Topic Review
KCNJ11 Gene
Potassium voltage-gated channel subfamily J member 11
  • 643
  • 23 Dec 2020
Topic Review
Generalizability of GWA-Identified Genetic Risk Variants
The Arabian Peninsula, located at the nexus of Africa, Europe, and Asia, was implicated in early human migration. The Arab population is characterized by consanguinity and endogamy leading to inbreeding. Global genome-wide association (GWA) studies on metabolic traits under-represent the Arab population. Replicability of GWA-identified association signals in the Arab population has not been satisfactorily explored. It is important to assess how well GWA-identified findings generalize if their clinical interpretations are to benefit the target population. 
  • 643
  • 26 Oct 2021
Topic Review
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 642
  • 24 Dec 2020
Topic Review
Oculodentodigital Dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital).
  • 642
  • 24 Dec 2020
Topic Review
Non-Human Primate Models of Inherited Retinal Diseases
Given the significant shared similarities between Non-human primates (NHP) and humans, NHP Inherited retinal diseases (IRDs) models have the potential to provide insight into the pathogenic processes involved. In turn, this can significantly de-risk and accelerate the therapeutic development of gene therapy. Although models created using genetic methods can better recapitulate the pathogenesis of IRDs compared to laser and chemical methods, there are concerns of cost and efficacy. As improvements are made to current genetic editing technology, especially in terms of editing efficiency and reducing off-target editing, it is likely that more NHP IRD models will emerge over the subsequent years.
  • 642
  • 01 Mar 2022
Topic Review
Gastrointestinal Stromal Tumor
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.
  • 641
  • 23 Dec 2020
Topic Review
Transcobalamin Deficiency
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body.
  • 640
  • 23 Dec 2020
Topic Review
Blood Biomarkers for Breast Cancer
The expression of two oncogenic miRNAs, miR526b and miR655, in poorly metastatic breast cancer cells enhances aggressive breast cancer phenotypes. miR526b and miR655 expression in breast tumors is associated with poor patient survival.  Both miRNAs are major regulators of the tumor microenvironment and can be detected in cell-free tumor cell secretions. Precursors of both miRNAs, pri-miR526b and pri-miR655, are sensitive and robust blood biomarkers to distinguish cancer from benign plasmas. 
  • 640
  • 13 Aug 2021
Topic Review
MCOLN1 Gene
mucolipin 1
  • 639
  • 22 Dec 2020
Topic Review
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
  • 639
  • 23 Dec 2020
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