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Topic Review
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
  • 1.0K
  • 24 Dec 2020
Topic Review
POGZ Gene
pogo transposable element derived with ZNF domain
  • 1.0K
  • 25 Dec 2020
Topic Review
CM Epigenetics
Cutaneous melanoma (CM) is an aggressive neoplasm that evolves from the malignant transformation of neural crest stem cell-derived melanocytes. The etiology of melanoma is multifactorial, and the most prominent factors include genetic predisposition, light skin color, multiple naevi, and excessive exposure to UV. Epigenetic alterations have emerged as essential contributors in the pathogenesis of various human diseases, including CM. Epigenetics is another layer of instructions apart from the genetic code that controls how genes are read and expressed, involving a change in the cell phenotype without changes in the genotype. Epigenetic regulation is an umbrella term that encompasses several mechanisms such as DNA methylation, histone post-translational modifications (PTMs), nucleosome remodeling, histone variants, and RNA-mediated post-transcriptional regulation. Influenced by lifestyle and environmental factors, epigenetic changes are highly dynamic and reversible and thus easy to regulate. 
  • 1.0K
  • 08 Oct 2021
Topic Review
Pathophysiology of Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. 
  • 1.0K
  • 30 Sep 2022
Topic Review
Chromosome 14
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs.
  • 1.0K
  • 24 Dec 2020
Topic Review
Atelosteogenesis Type 1
Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.
  • 1.0K
  • 24 Dec 2020
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 1.0K
  • 24 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 1.0K
  • 24 Dec 2020
Topic Review
Gorlin Syndrome
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.
  • 1.0K
  • 31 Dec 2020
Topic Review
Vaccination under COVID-19 Pandemic
The current COVID-19 pandemic, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), has raised significant economic, social, and psychological concerns. The rapid spread of the virus, coupled with the absence of vaccines and antiviral treatments for SARS-CoV-2, has galvanized a major global endeavor to develop effective vaccines. Within a matter of just a few months of the initial outbreak, research teams worldwide, adopting a range of different strategies, embarked on a quest to develop effective vaccine that could be effectively used to suppress this virulent pathogen. 
  • 1.0K
  • 08 Feb 2021
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 1.0K
  • 23 Dec 2020
Topic Review
Essential Thrombocythemia
Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.
  • 1.0K
  • 25 Dec 2020
Topic Review
Familial Candidiasis
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
  • 1.0K
  • 25 Dec 2020
Topic Review
Sialuria
Sialuria is a rare disorder that has variable effects on development.
  • 1.0K
  • 25 Dec 2020
Topic Review
Fibronectin Glomerulopathy
Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease).
  • 1.0K
  • 25 Dec 2020
Topic Review
Strategies for Folate Biofortification in Soybean
Folate (vitamin B9) is an essential water-soluble vitamin in plants and microorganisms that plays a role in one-carbon metabolism. It functions as a cofactor in the synthesis of nucleic acids, metabolism of amino acids, and methylation of hormones, lipids, proteins, and chlorophyll. Folate is particularly important for cell division in pregnant and lactating women. However, humans cannot synthesise folate de novo and must obtain it from dietary sources, such as crops, animal-based foods, or nutritional supplements. 
  • 1.0K
  • 31 Jan 2023
Topic Review
NOG Gene
noggin
  • 1.0K
  • 24 Dec 2020
Topic Review
C3 Glomerulopathy
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.
  • 1.0K
  • 24 Dec 2020
Topic Review
VHL Gene
Von Hippel-Lindau tumor suppressor.
  • 1.0K
  • 23 Dec 2020
Topic Review
ACTA1 Gene
actin, alpha 1, skeletal muscle
  • 1.0K
  • 24 Dec 2020
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