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Topic Review
MCOLN1 Gene
mucolipin 1
  • 645
  • 22 Dec 2020
Topic Review
L1CAM Gene
L1 cell adhesion molecule
  • 645
  • 23 Dec 2020
Topic Review
Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.
  • 645
  • 24 Dec 2020
Topic Review
Aspartylglucosaminuria
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
  • 645
  • 24 Dec 2020
Topic Review
Generalizability of GWA-Identified Genetic Risk Variants
The Arabian Peninsula, located at the nexus of Africa, Europe, and Asia, was implicated in early human migration. The Arab population is characterized by consanguinity and endogamy leading to inbreeding. Global genome-wide association (GWA) studies on metabolic traits under-represent the Arab population. Replicability of GWA-identified association signals in the Arab population has not been satisfactorily explored. It is important to assess how well GWA-identified findings generalize if their clinical interpretations are to benefit the target population. 
  • 645
  • 26 Oct 2021
Topic Review
MYH6 Gene
myosin heavy chain 6
  • 643
  • 23 Dec 2020
Topic Review
ANTXR2 Gene
ANTXR cell adhesion molecule 2
  • 643
  • 24 Dec 2020
Topic Review
Blood Biomarkers for Breast Cancer
The expression of two oncogenic miRNAs, miR526b and miR655, in poorly metastatic breast cancer cells enhances aggressive breast cancer phenotypes. miR526b and miR655 expression in breast tumors is associated with poor patient survival.  Both miRNAs are major regulators of the tumor microenvironment and can be detected in cell-free tumor cell secretions. Precursors of both miRNAs, pri-miR526b and pri-miR655, are sensitive and robust blood biomarkers to distinguish cancer from benign plasmas. 
  • 643
  • 13 Aug 2021
Topic Review
MTM1 Gene
myotubularin 1
  • 642
  • 23 Dec 2020
Topic Review
Ménière Disease
Ménière disease is a disorder of the inner ear that affects balance and hearing. This condition is characterized by sudden episodes of extreme dizziness (vertigo), a roaring sound in the ears (tinnitus), a feeling of pressure or fullness in the ears, and fluctuations in hearing. Episodes are often associated with nausea and vomiting, and they can severely disrupt activities of daily living.
  • 642
  • 23 Dec 2020
Topic Review
Hyperkalemic Periodic Paralysis
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
  • 640
  • 23 Dec 2020
Topic Review
N-acetylglutamate Synthase Deficiency
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 640
  • 23 Dec 2020
Topic Review
Leukocyte Adhesion Deficiency Type 1
Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 640
  • 24 Dec 2020
Topic Review
COG5-Congenital Disorder of Glycosylation
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 640
  • 24 Dec 2020
Topic Review
SMCHD1 Gene
structural maintenance of chromosomes flexible hinge domain containing 1
  • 639
  • 24 Dec 2020
Topic Review
Prolidase Deficiency
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.
  • 639
  • 24 Dec 2020
Topic Review
Lipoid Proteinosis
Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas.
  • 637
  • 24 Dec 2020
Topic Review
CART Expression and Gastric Ulcerations
Cocaine- and amphetamine-regulated transcript (CART) is a peptide suggested to play a role in gastrointestinal tract tissue reaction to pathology. Gastric ulceration is a common disorder affecting huge number of people, and additionally, it contributes to the loss of pig livestock production. Importantly, ulceration as a focal disruption affecting deeper layers of the stomach wall differs from other gastrointestinal pathologies and should be studied individually. The pig’s gastrointestinal tract, due to its many similarities to the human counterpart, provides a valuable experimental model for studying digestive system pathologies. To date, the role of CART in gastric ulceration and the expression of the gene encoding CART in porcine gastrointestinal tube are completely unknown. 
  • 637
  • 29 Jul 2021
Topic Review
MYCN Gene
MYCN proto-oncogene, bHLH transcription factor
  • 636
  • 23 Dec 2020
Topic Review
ST3GAL5 Gene
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  • 635
  • 22 Dec 2020
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