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Topic Review
Duane-radial Ray Syndrome
Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.
  • 1.0K
  • 24 Dec 2020
Topic Review
Autoinflammatory Diseases in Children
Abnormalities of the innate immunity machinery make up a motley group of rare diseases named ‘autoinflammatory’, which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Dysregulated inflammasome activity, overproduction of interleukin (IL)-1 or other IL-1-related cytokines and delayed shutdown of inflammation are pivotal keys in the majority of ADs. The recent progress of cellular biology has clarified many molecular mechanisms behind monogenic ADs, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome (or ‘autosomal dominant familial periodic fever’), cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, hereditary pyogenic diseases, idiopathic granulomatous diseases and defects of the ubiquitin-proteasome pathway. A long-lasting history of recurrent fevers should require the ruling out of chronic infections and malignancies before considering ADs in children.
  • 1.0K
  • 15 Aug 2022
Topic Review
Hereditary Fructose Intolerance
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits.
  • 1.0K
  • 23 Dec 2020
Topic Review
TGM5 Gene
Transglutaminase 5: The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. 
  • 1.0K
  • 25 Dec 2020
Topic Review
PLCB4 Gene
phospholipase C beta 4
  • 1.0K
  • 25 Dec 2020
Topic Review
GTS's Candidate Genes and Pathways
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of heritability suggesting, that genetic risk factors play an important role in disease etiology. However, the identification of major GTS susceptibility genes has been challenging, presumably due to the complex interplay between several genetic factors and environmental influences, low penetrance of each individual factor, genetic diversity in populations, and the presence of comorbid disorders. Even though several strong candidate genes have hitherto been identified, none of these have turned out to be major susceptibility genes yet.
  • 1.0K
  • 15 Sep 2021
Topic Review
Histidinemia
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.
  • 1.0K
  • 23 Dec 2020
Topic Review
ACTA2 Gene
actin, alpha 2, smooth muscle, aorta
  • 1.0K
  • 24 Dec 2020
Topic Review
Modeling Human Cardiac Arrhythmias: Insights from Zebrafish
Cardiac arrhythmia, or irregular heart rhythm, is associated with morbidity and mortality and is described as one of the most important future public health challenges. In the last few decades, the zebrafish has emerged as an attractive model to reproduce in vivo human cardiac pathologies, including arrhythmias. As genetic tools in zebrafish continue to bloom, this model will be crucial for functional genomics studies and to develop personalized anti-arrhythmic therapies.
  • 1.0K
  • 21 Jan 2022
Topic Review
NcRNAs in Human Diseases
The mammalian genome comprehends a small minority of genes that encode for proteins (barely 2% of the total genome in humans) and an immense majority of genes that are transcribed into RNA but not encoded for proteins (ncRNAs). These non-coding genes are intimately related to the expression regulation of protein-coding genes. The ncRNAs subtypes differ in their size, so there are long non-coding genes (lncRNAs) and other smaller ones, like microRNAs (miRNAs) and piwi-interacting RNAs (piRNAs). Due to their important role in the maintenance of cellular functioning, any deregulation of the expression profiles of these ncRNAs can dissemble in the development of different types of diseases, such as cancer, neurodegenerative, or cardiovascular disorders.
  • 1.0K
  • 16 Mar 2021
Topic Review
AR Gene
androgen receptor
  • 1.0K
  • 24 Dec 2020
Topic Review
BCR Gene
BCR, RhoGEF and GTPase activating protein
  • 1.0K
  • 24 Dec 2020
Topic Review
Congenital Mirror Movement Disorder
Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side.
  • 1.0K
  • 24 Dec 2020
Topic Review
Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
Pompe Disease
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
  • 1.0K
  • 04 Jan 2021
Topic Review
TNNI3 Gene
Troponin I3, cardiac type: The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle.
  • 1.0K
  • 25 Dec 2020
Topic Review
Alopecia Areata
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.
  • 1.0K
  • 24 Dec 2020
Topic Review
Fibrochondrogenesis
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.
  • 1.0K
  • 25 Dec 2020
Topic Review
Post-Translational Modifications in Colorectal Cancer
Colorectal cancer (CRC) is one of the most common cancers worldwide. Its main modifiable risk factors are diet, alcohol consumption, and smoking. Thus, the right approach through lifestyle changes may lead to its prevention. Although cancer is a multi-factorial process, the study of post-translational modifications (PTMs) of proteins associated with CRC has gained interest, as inappropriate modification is closely related to the activation of cell signalling pathways involved in carcinogenesis. 
  • 1.0K
  • 06 Feb 2023
Topic Review
Tarsal-carpal Coalition Syndrome
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet.
  • 1.0K
  • 23 Dec 2020
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