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Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 876
  • 25 Dec 2020
Topic Review
MMP2 Gene
matrix metallopeptidase 2
  • 875
  • 22 Dec 2020
Topic Review
Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
  • 875
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type I
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.
  • 875
  • 24 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 875
  • 24 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 875
  • 24 Dec 2020
Topic Review
LTBP4 in Health and Disease
Latent transforming growth factor β (TGFβ)-binding protein (LTBP) 4, a member of the LTBP family, shows structural homology with fibrillins. Both these protein types are characterized by calcium-binding epidermal growth factor-like repeats interspersed with 8-cysteine domains. Based on its domain composition and distribution, LTBP4 is thought to adopt an extended structure, facilitating the linear deposition of tropoelastin onto microfibrils. In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. LTBP4 is an essential regulator of TGFβ signaling and is related to development, immunity, injury repair, and diseases, playing a central role in regulating inflammation, fibrosis, and cancer progression.
  • 875
  • 07 Jun 2021
Topic Review
Duckweed Species in Saudi Arabia
Duckweeds, or Lemnaceae, are widespread aquatic plants. Morphology-based identification of duckweed species is difficult because of their structural complexity. Hence, molecular tools provide significant advantages for characterizing and selecting species or clones for sustainable commercial use.
  • 875
  • 18 Nov 2021
Topic Review
Histone Modifications in Alzheimer’s Disease
Since Late-onset Alzheimer’s disease (LOAD) derives from a combination of genetic variants and environmental factors, epigenetic modifications have been predicted to play a role in the etiopathology of LOAD. Along with DNA methylation, histone modifications have been proposed as the main epigenetic modifications that contribute to the pathologic mechanisms of LOAD.
  • 875
  • 15 May 2023
Topic Review
Globozoospermia
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
  • 874
  • 23 Dec 2020
Topic Review
Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis).
  • 874
  • 23 Dec 2020
Topic Review
Legius Syndrome
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).
  • 874
  • 23 Dec 2020
Topic Review
Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 874
  • 24 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 874
  • 24 Dec 2020
Topic Review
Cytochrome c Oxidase Deficiency
Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.
  • 874
  • 24 Dec 2020
Topic Review
Schinzel-Giedion Syndrome
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems.
  • 874
  • 24 Dec 2020
Topic Review
SOS1 Gene
SOS Ras/Rac guanine nucleotide exchange factor 1
  • 874
  • 24 Dec 2020
Topic Review
FGF23 Gene
Fibroblast growth factor 23
  • 874
  • 04 Jan 2021
Topic Review
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a disorder that affects many parts of the body.
  • 873
  • 24 Dec 2020
Topic Review
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.
  • 873
  • 24 Dec 2020
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