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Topic Review
Adenylosuccinate Lyase Deficiency
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.
  • 747
  • 24 Dec 2020
Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 746
  • 23 Dec 2020
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 746
  • 23 Dec 2020
Topic Review
Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
  • 746
  • 23 Dec 2020
Topic Review
Mucolipidosis Type IV
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
  • 746
  • 23 Dec 2020
Topic Review
Achromatopsia
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.
  • 746
  • 23 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 746
  • 24 Dec 2020
Topic Review
Rhabdoid Tumor Predisposition Syndrome
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors.
  • 746
  • 24 Dec 2020
Topic Review
EIF2B4 Gene
Eukaryotic translation initiation factor 2B subunit delta
  • 746
  • 25 Dec 2020
Topic Review
PITX2 Gene
paired like homeodomain 2
  • 746
  • 25 Dec 2020
Topic Review
Vocal Deficits in Parkinson’s Disease
This reviews vocalization deficits in models of Parkinson disease.
  • 746
  • 29 Jul 2021
Topic Review
Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology
The emergence of precision biology has been driven by the development of advanced technologies and techniques in high-resolution biological research systems. Enhancer-mediated transcriptional regulation, a complex network of gene expression and regulation in eukaryotes, has attracted significant attention as a promising avenue for investigating the underlying mechanisms of biological processes and diseases. To address biological problems with precision, large amounts of data, functional information, and research on the mechanisms of action of biological molecules is required to address biological problems with precision. Enhancers, including typical enhancers and super enhancers, play a crucial role in gene expression and regulation within this network. The identification and targeting of disease-associated enhancers hold the potential to advance precision medicine.
  • 746
  • 05 Jul 2023
Topic Review
Gene–Diet Interactions on Metabolic Disease-Related Outcomes
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries.
  • 746
  • 31 Jul 2023
Topic Review
Isolated Congenital Asplenia
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).
  • 745
  • 23 Dec 2020
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 745
  • 24 Dec 2020
Topic Review
SERPINI1 Gene
serpin family I member 1
  • 745
  • 24 Dec 2020
Topic Review
Dyserythropoietic Anemia and Thrombocytopenia
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells.
  • 745
  • 24 Dec 2020
Topic Review
NF2 Gene
neurofibromin 2
  • 745
  • 23 Dec 2020
Topic Review
Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities.
  • 744
  • 23 Dec 2020
Topic Review
Complement Component 8 Deficiency
Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria.
  • 744
  • 24 Dec 2020
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