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23 relations: Alanine, Central nervous system, EF hand, EFHC1, Epilepsy, Five prime untranslated region, Gene, Harm avoidance, In vitro, Isoelectric point, Juvenile myoclonic epilepsy, Messenger RNA, Mutation, Norrie disease, Protein, Sense strand, Serine, Single-nucleotide polymorphism, Three prime untranslated region, Turner syndrome, Tyrosine, X chromosome, X-inactivation.
Alanine
Alanine (symbol Ala or A) is an α-amino acid that is used in the biosynthesis of proteins.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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EF hand
The EF hand is a helix-loop-helix structural domain or motif found in a large family of calcium-binding proteins.
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EFHC1
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
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Epilepsy
Epilepsy is a group of neurological disorders characterized by epileptic seizures.
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Five prime untranslated region
The 5′ untranslated region (5′ UTR) (also known as a leader sequence or leader RNA) is the region of an mRNA that is directly upstream from the initiation codon.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Harm avoidance
In psychology, harm avoidance (HA) is a personality trait characterized by excessive worrying; pessimism; shyness; and being fearful, doubtful, and easily fatigued.
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In vitro
In vitro (meaning: in the glass) studies are performed with microorganisms, cells, or biological molecules outside their normal biological context.
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Isoelectric point
The isoelectric point (pI, pH(I), IEP), is the pH at which a particular molecule carries no net electrical charge or is electrically neutral in the statistical mean.
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Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic generalized epilepsy, representing 5-10% of all epilepsy cases.
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Messenger RNA
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Norrie disease
Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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Sense strand
In genetics, a sense strand, or coding strand, is the segment within double-stranded DNA that runs from 5' to 3', and which is complementary to the antisense strand of DNA, or template strand, which runs from 3' to 5'.
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Serine
Serine (symbol Ser or S) is an ɑ-amino acid that is used in the biosynthesis of proteins.
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Single-nucleotide polymorphism
A single-nucleotide polymorphism, often abbreviated to SNP (plural), is a variation in a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. > 1%).
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Three prime untranslated region
In molecular genetics, the three prime untranslated region (3'-UTR) is the section of messenger RNA (mRNA) that immediately follows the translation termination codon.
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Turner syndrome
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.
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Tyrosine
Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.
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X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
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X-inactivation
X-inactivation (also called lyonization) is a process by which one of the copies of the X chromosome present in female mammals is inactivated.
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References
[1] https://en.wikipedia.org/wiki/EFHC2
