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All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
ITM2B Gene
Integral membrane protein 2B
  • 759
  • 23 Dec 2020
Topic Review
PEPD Gene
peptidase D
  • 759
  • 25 Dec 2020
Topic Review
MBD5 Gene
Methyl-CpG binding domain protein 5
  • 758
  • 23 Dec 2020
Topic Review
Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.
  • 758
  • 24 Dec 2020
Topic Review
In Utero Origins of Acute Leukemia in Children
Acute leukemias, mainly consisting of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), comprise a major diagnostic group among hematologic cancers. Due to the early age at onset of ALL, particularly, it has long been suspected that acute leukemias of childhood may have an in utero origin. 
  • 758
  • 23 Feb 2024
Topic Review
MED12 Gene
mediator complex subunit 12
  • 758
  • 22 Dec 2020
Topic Review
CARD11 Gene
caspase recruitment domain family member 11
  • 758
  • 24 Dec 2020
Topic Review
Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
  • 757
  • 24 Dec 2020
Topic Review
CARD14 Gene
caspase recruitment domain family member 14
  • 757
  • 24 Dec 2020
Topic Review
Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
  • 757
  • 19 Apr 2021
Topic Review
SETBP1 Gene
SET binding protein 1
  • 757
  • 24 Dec 2020
Topic Review
Genetics in Maturity-Onset Diabetes of the Young
Diabetes is a heterogeneous group of metabolic disorders, defined by persistent hyperglycemia due to both defects in insulin secretion and action, culminating in abnormal glucose metabolism with lifelong micro- and macro-vascular complications that develop from chronic hyperglycemia. It constitutes a significant cause of social, psychological, and financial burdens, along with an increased overall risk of premature death. Diabetes with early-onset hyperglycemia diagnosed in a patient under 25 years old, with an autosomal dominant transmission with at least three affected generations, a partially conserved pancreatic β-cell function, and the absence of autoantibodies are the characteristics of maturity-onset diabetes of the young (MODY). This subtype of genetically transmitted diabetes is suspected to be the most frequent type of monogenic diabetes, with a prevalence of 21–45 in 1,000,000 children and 100 patients in 1,000,000 individuals. Fourteen subtypes of MODY were identified and are currently acknowledged. 
  • 757
  • 23 Nov 2022
Topic Review
Non-Specific Lipid Transfer Proteins (nsLTPs)
Non-specific lipid transfer proteins (nsLTPs) stand out among plant-specific peptide superfamilies due to their multifaceted roles in plant molecular physiology and development, including their protective functions against pathogens. These antimicrobial agents have demonstrated remarkable efficacy against bacterial and fungal pathogens. The discovery of plant-originated, cysteine-rich antimicrobial peptides such as nsLTPs has paved the way for exploring the mentioned organisms as potential biofactories for synthesizing antimicrobial compounds.
  • 757
  • 25 May 2023
Topic Review
Otopalatodigital Syndrome Type 2
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.
  • 757
  • 24 Dec 2020
Topic Review
Hereditary Multiple Osteochondromas
Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas.
  • 756
  • 23 Dec 2020
Topic Review
ANOS1 Gene
anosmin 1
  • 756
  • 24 Dec 2020
Topic Review
CACNB4 Gene
calcium voltage-gated channel auxiliary subunit beta 4
  • 756
  • 24 Dec 2020
Topic Review
TMEM70 Gene
Transmembrane protein 70: The TMEM70 gene provides instructions for making a protein called transmembrane protein 70.
  • 756
  • 25 Dec 2020
Topic Review
HOXA13 Gene
Homeobox A13
  • 756
  • 23 Dec 2020
Topic Review
Holt-Oram Syndrome
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
  • 755
  • 23 Dec 2020
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