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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
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 932
  • 23 Dec 2020
Topic Review
X-linked Lymphoproliferative Disease
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males.
  • 932
  • 24 Dec 2020
Topic Review
GATA1 Gene
GATA binding protein 1
  • 932
  • 25 Dec 2020
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 931
  • 23 Dec 2020
Topic Review
UGT1A1 Gene
UDP glucuronosyltransferase family 1 member A1.
  • 931
  • 23 Dec 2020
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 931
  • 23 Dec 2020
Topic Review
Desmosterolosis
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
  • 931
  • 24 Dec 2020
Topic Review
Pontocerebellar Hypoplasia
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.
  • 931
  • 24 Dec 2020
Topic Review
POMC Gene
proopiomelanocortin
  • 931
  • 25 Dec 2020
Topic Review
TNNT2 Gene
Troponin T2, cardiac type: The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle.
  • 931
  • 25 Dec 2020
Topic Review
Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.
  • 931
  • 31 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 930
  • 24 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 930
  • 25 Dec 2020
Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 930
  • 25 Dec 2020
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 930
  • 05 Aug 2022
Topic Review
Prescription Opioid Misuse
Prescription opioids are used for some chronic pain conditions. However, generally, long-term therapy has unwanted side effects which may trigger addiction, overdose, and eventually cause deaths. Opioid addiction and chronic pain conditions have both been associated with evidence of genetic and epigenetic alterations. Despite intense research interest, many questions about the contribution of epigenetic changes to this typology of addiction vulnerability and development remain unanswered.
  • 930
  • 06 Sep 2021
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 929
  • 23 Dec 2020
Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 929
  • 23 Dec 2020
Topic Review
Factor XI Deficiency
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting.
  • 929
  • 25 Dec 2020
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