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Topic Review
MLH1 Gene
mutL homolog 1
  • 755
  • 22 Dec 2020
Topic Review
MAP2K1 Gene
Mitogen-activated protein kinase kinase 1
  • 755
  • 23 Dec 2020
Topic Review
Amish Lethal Microcephaly
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  
  • 755
  • 24 Dec 2020
Topic Review
CHD2 Myoclonic Encephalopathy
CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.
  • 755
  • 24 Dec 2020
Topic Review
CLN5 Disease
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
  • 755
  • 07 Mar 2021
Topic Review
PCBD1 Gene
pterin-4 alpha-carbinolamine dehydratase 1
  • 755
  • 25 Dec 2020
Topic Review
ELOVL2-Based Epigenetic Clock for Forensic Age Prediction
The prediction of chronological age from methylation-based biomarkers represents one of the most promising applications in the field of forensic sciences. Age-prediction models developed are not easily applicable for forensic caseworkers. Among the several attempts to pursue this objective, the formulation of single-locus models might represent a good strategy.
  • 755
  • 09 Feb 2023
Topic Review
Nucleophosmin Isoform 1
NPM1 (nucleophosmin isoform 1) is a nucleolar and multifunctional protein. NPM1 is involved in ribosome assembly as ribonuclease, associated with centrosome duplication, and controls cellular apoptotic response by inhibiting ARF (alternative reading frame). In some cancers, mutant forms of NPM1 including the one fused to ALK, anaplastic lymphoma receptor tyrosine kinase, and NPM1c+ (NPM1 cytoplasmic positive) are known.  Moreover, in this study, NPM1 has been identified as a novel factor interacting with a CDK inhibitor p27Kip1. Increased NPM1 expression in cancer cells suppresses p27 function and promotes cell proliferation of cancer cells in vitro and in vivo. 
  • 754
  • 05 Nov 2020
Topic Review
MKKS Gene
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.
  • 754
  • 22 Dec 2020
Topic Review
ITM2B Gene
Integral membrane protein 2B
  • 754
  • 23 Dec 2020
Topic Review
NYX Gene
nyctalopin
  • 754
  • 24 Dec 2020
Topic Review
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
  • 753
  • 23 Dec 2020
Topic Review
Chylomicron retention disease
Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food.
  • 753
  • 24 Dec 2020
Topic Review
Optic Atrophy Type 1
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 753
  • 24 Dec 2020
Topic Review
Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
  • 753
  • 24 Dec 2020
Topic Review
SETBP1 Gene
SET binding protein 1
  • 753
  • 24 Dec 2020
Topic Review
FGF10 Gene
Fibroblast growth factor 10: The FGF10 gene provides instructions for making a protein called fibroblast growth factor 10 (FGF10). 
  • 753
  • 25 Dec 2020
Topic Review
Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
  • 753
  • 25 Dec 2020
Topic Review
PEPD Gene
peptidase D
  • 753
  • 25 Dec 2020
Topic Review
LncRNAs in Traumatic Brain Injury
The biomedical studies of traumatic brain injury (TBI) can lead to insight for treatment clinically. However, TBIs are occurred by various risk factors and showing heterogeneity that make difficult to accurate diagnosis for initiation treatment of patients. Therefore, identification of biomarkers requires to prediction and therapeutics for TBI treatment. The canonical function of the long non-coding RNAs (lncRNAs) have been recently shown to promote transcription, post-transcription, and protein activity in many different conditions. 
  • 753
  • 30 Jan 2021
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