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Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 996
  • 24 Dec 2020
Topic Review
ACTA1 Gene
actin, alpha 1, skeletal muscle
  • 996
  • 24 Dec 2020
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 995
  • 23 Dec 2020
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 995
  • 23 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 995
  • 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.
  • 995
  • 24 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 995
  • 24 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.
  • 995
  • 25 Dec 2020
Topic Review
PLCG2 Gene
phospholipase C gamma 2
  • 995
  • 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. 
  • 995
  • 08 Oct 2021
Topic Review
The Supersymmetry Genetic Code table
The full set of relationship between 61 codons and 3 stop signals that specify the 20 naturals amino acids is called the genetic code. The fundamental role of symmetry in the genetic code is to decrease disorder (entropy) between codons and to preserve the integrity of system during evolution.
  • 995
  • 04 Feb 2024
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 994
  • 24 Dec 2020
Topic Review
Lysosomal Storage Disorders Linked to Impaired Autophagy
Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as Lysosomal Storage Disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. 
  • 992
  • 10 Jan 2024
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.
  • 991
  • 24 Dec 2020
Topic Review
FREM2 Gene
FRAS1 related extracellular matrix protein 2
  • 991
  • 25 Dec 2020
Topic Review
G6PD Gene
Glucose-6-phosphate dehydrogenase
  • 991
  • 25 Dec 2020
Topic Review
Sialuria
Sialuria is a rare disorder that has variable effects on development.
  • 991
  • 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).
  • 991
  • 25 Dec 2020
Topic Review
PACS1 Syndrome
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
  • 990
  • 24 Dec 2020
Topic Review
Renpenning Syndrome
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features.
  • 990
  • 24 Dec 2020
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