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Topic Review
Adolescent Idiopathic Scoliosis
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated.
  • 817
  • 24 Dec 2020
Topic Review
DMD Gene
Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin. 
  • 817
  • 24 Dec 2020
Topic Review
SLC25A15 Gene
solute carrier family 25 member 15
  • 817
  • 24 Dec 2020
Topic Review
TGFBR2 Gene
Transforming growth factor beta receptor 2: The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. 
  • 817
  • 25 Dec 2020
Topic Review
HDAC4 Gene
Histone deacetylase 4
  • 817
  • 22 Dec 2020
Topic Review
Critical Congenital Heart Disease
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  • 816
  • 24 Dec 2020
Topic Review
CREBBP Gene
CREB binding protein
  • 816
  • 24 Dec 2020
Topic Review
Danon Disease
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.
  • 816
  • 24 Dec 2020
Topic Review
Glutamate Formiminotransferase Deficiency
Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.
  • 816
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 4
Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias.
  • 815
  • 23 Dec 2020
Topic Review
TK2-MDS
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
  • 815
  • 23 Dec 2020
Topic Review
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • 815
  • 24 Dec 2020
Topic Review
PDGFRB Gene
platelet derived growth factor receptor beta
  • 815
  • 25 Dec 2020
Topic Review
Omics and Male Infertility
Male infertility is a multifaceted disorder affecting approximately 50% of male partners in infertile couples. Over the years, male infertility has been diagnosed mainly through semen analysis, hormone evaluations, medical records and physical examinations, which of course are fundamental, but yet inefficient, because 30% of male infertility cases remain idiopathic. This dilemmatic status of the unknown needs to be addressed with more sophisticated and result-driven technologies and/or techniques. Genetic alterations have been linked with male infertility, thereby unveiling the practicality of investigating this disorder from the “omics” perspective. Omics aims at analyzing the structure and functions of a whole constituent of a given biological function at different levels, including the molecular gene level (genomics), transcript level (transcriptomics), protein level (proteomics) and metabolites level (metabolomics).
  • 815
  • 08 Mar 2022
Topic Review
Histone Modification and Cancer
The nucleosome is the basic unit of chromatin. It is an octamer composed of 4 core histones (H3, H4, H2A, H2B), including one H3-H4 tetramer and two H2A-H2B dimers, surrounded by 147 pairs of DNA base pairs. The core histones form a spherical core particle, and their N-terminal tails are free from the core particle, which helps the modification occur. Posttranslational modifications (PTMs) are involved in a variety of cellular processes, such as transcription, DNA damage, apoptosis, and cell cycle regulation. Mass spectrometry is a powerful tool for finding and verifying histone PTMs.
  • 815
  • 22 Mar 2023
Topic Review
Graves Disease
Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 814
  • 23 Dec 2020
Topic Review
RPL5 Gene
ribosomal protein L5
  • 814
  • 24 Dec 2020
Topic Review
Aromatase Deficiency
Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
  • 814
  • 24 Dec 2020
Topic Review
Congenital Hyperinsulinism
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
  • 814
  • 24 Dec 2020
Topic Review
EVC Gene
EvC ciliary complex subunit 1
  • 814
  • 24 Dec 2020
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