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Topic Review
Emanuel Syndrome
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.  
  • 937
  • 25 Dec 2020
Topic Review
TPI1 Gene
Triosephosphate isomerase 1: The TPI1 gene provides instructions for making an enzyme called triosephosphate isomerase 1.
  • 937
  • 25 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 937
  • 21 Jul 2022
Topic Review
Histone and Oncohistone Characterization via Yeast Models
Understanding the molecular basis of cancer initiation and progression is critical in developing effective treatment strategies. Mutations in genes encoding histone proteins that drive oncogenesis have been identified, converting these essential proteins into “oncohistones”. Understanding how oncohistone mutants, which are commonly single missense mutations, subvert the normal function of histones to drive oncogenesis requires defining the functional consequences of such changes. Histones genes are present in multiple copies in the human genome with 15 genes encoding histone H3 isoforms, the histone for which the majority of oncohistone variants have been analyzed thus far. With so many wildtype histone proteins being expressed simultaneously within the oncohistone, it can be difficult to decipher the precise mechanistic consequences of the mutant protein. In contrast to humans, budding and fission yeast contain only two or three histone H3 genes, respectively. Furthermore, yeast histones share ~90% sequence identity with human H3 protein. Its genetic simplicity and evolutionary conservation make yeast an excellent model for characterizing oncohistones. 
  • 937
  • 11 Jan 2024
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 936
  • 23 Dec 2020
Topic Review
Wilson Disease
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
  • 936
  • 24 Dec 2020
Topic Review
Glycerol Kinase Deficiency
Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.
  • 936
  • 19 Oct 2022
Topic Review
DRD5 Gene
Dopamine Receptor D5
  • 935
  • 24 Dec 2020
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 935
  • 24 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 935
  • 25 Dec 2020
Topic Review
PAX8 Gene
paired box 8
  • 935
  • 25 Dec 2020
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 935
  • 21 Jun 2021
Topic Review
SOX9
SRY-box 9
  • 935
  • 24 Dec 2020
Topic Review
MSH2 Gene
mutS homolog 2
  • 934
  • 23 Dec 2020
Topic Review
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.
  • 934
  • 23 Dec 2020
Topic Review
FHL1 Gene
Four and a half LIM domains 1
  • 934
  • 25 Dec 2020
Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 933
  • 24 Dec 2020
Topic Review
FTCD Gene
Formimidoyltransferase cyclodeaminase
  • 933
  • 25 Dec 2020
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 933
  • 22 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 932
  • 23 Dec 2020
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