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Topic Review
Cap Myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
  • 1.0K
  • 24 Dec 2020
Topic Review
GFM1 Gene
G elongation factor mitochondrial 1
  • 1.0K
  • 25 Dec 2020
Topic Review
Genomics of Parasitic Plants
Parasitic plants extract nutrients from the other plants to finish their life cycle and reproduce. The control of parasitic weeds is notoriously difficult due to their tight physical association and their close biological relationship to their hosts. Parasitic plants differ in their susceptible host ranges, and the host species differ in their susceptibility to parasitic plants. Data show that adaptations of parasitic plants to various hosts are largely genetically determined. However, multiple cases of rapid adaptation in genetically homogenous parasitic weed populations to new hosts strongly suggest the involvement of epigenetic mechanisms. Progress in genome-wide analyses of gene expression and epigenetic features revealed many new molecular details of the parasitic plants’ interactions with their host plants.
  • 1.0K
  • 13 Feb 2023
Topic Review
Hereditary Transthyretin-Related Amyloidosis
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR), a rare disease whose real incidence is only partially estimated. Somatic mosaicism and other genetic factors influence the expressivity, complexity, progression, and transmission of the disease and should be better investigated, to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. 
  • 1.0K
  • 21 Oct 2022
Topic Review
Spastic Paraplegia Type 7
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.0K
  • 23 Dec 2020
Topic Review
Meckel Syndrome
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body.
  • 1.0K
  • 23 Dec 2020
Topic Review
Central Precocious Puberty
Central precocious puberty is a condition that causes early sexual development in girls and boys.
  • 1.0K
  • 20 Apr 2023
Topic Review
Cole Disease
Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life.
  • 1.0K
  • 24 Dec 2020
Topic Review
PHGDH Gene
phosphoglycerate dehydrogenase
  • 1.0K
  • 25 Dec 2020
Topic Review
CCFDN
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
  • 1.0K
  • 04 Jan 2021
Topic Review
Epigenetics in Congenital Heart Disease
Congenital heart disease (CHD) is the most common birth defect among newborns worldwide and contributes to significant infant morbidity and mortality. Owing to major advances in medical and surgical management, as well as improved prenatal diagnosis, the outcomes for these children with CHD have improved tremendously so much so that there are now more adults living with CHD than children. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. 
  • 1.0K
  • 26 Apr 2021
Topic Review
Vici Syndrome
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.  
  • 1.0K
  • 23 Dec 2020
Topic Review
Branchio-Oculo-Facial Syndrome
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
  • 1.0K
  • 24 Dec 2020
Topic Review
NR5A1 Gene
nuclear receptor subfamily 5 group A member 1
  • 1.0K
  • 24 Dec 2020
Topic Review
Seasonal Affective Disorder
Seasonal affective disorder is a mental health condition that is triggered by the changing of the seasons.
  • 1.0K
  • 24 Dec 2020
Topic Review
Epigenome-Wide Association Study (EWAS)
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
  • 1.0K
  • 16 Nov 2022
Topic Review
Horner Syndrome
Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves.
  • 1.0K
  • 23 Dec 2020
Topic Review
Rotor Syndrome
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia).
  • 1.0K
  • 19 Apr 2021
Topic Review
KCNA1 Gene
Potassium voltage-gated channel subfamily A member 1
  • 1.0K
  • 23 Dec 2020
Topic Review
Aceruloplasminemia
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
  • 1.0K
  • 23 Dec 2020
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