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44 relations: Acetylserotonin O-methyltransferase, Aneuploidy, Autosome, CD99, Chromosomal crossover, Chromosome, CRLF2, DHRSX, Gene dosage, Genetic recombination, Genome Reference Consortium, Granulocyte-macrophage colony-stimulating factor receptor, GTPBP6, Homology (biology), IL3RA, Interleukin-3 receptor, Interleukin-9 receptor, Klinefelter syndrome, Léri–Weill dyschondrosteosis, Madelung's deformity, Meiosis, Mouse, Mutation, N-acetylserotonin O-methyltransferase-like protein, Nucleic acid hybridization, Nucleotide, P2RY8, PLCXD1, PPP2R3B, Pseudogene, Sexual reproduction, Short stature homeobox gene, SLC25A6, SPRY3, Synapsis, Telomere, Triple X syndrome, Turner syndrome, X chromosome, X-inactivation, Xg antigen system, XYY syndrome, Y chromosome, ZBED1.
Acetylserotonin O-methyltransferase
N-Acetylserotonin O-methyltransferase also known as ASMT is an enzyme that catalyzes the final reaction in melatonin biosynthesis, converting Normelatonin to melatonin.
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Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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CD99
CD99 antigen (Cluster of differentiation 99), also known as MIC2 or single-chain type-1 glycoprotein, is a heavily O-glycosylated transmembrane protein that is encoded by the CD99 gene in humans.
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Chromosomal crossover
Chromosomal crossover (or crossing over) is the exchange of genetic material between homologous chromosomes that results in recombinant chromosomes during sexual reproduction.
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Chromosome
A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.
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CRLF2
Cytokine receptor-like factor 2 is a protein that in humans is encoded by the CRLF2 gene.
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DHRSX
Dehydrogenase/reductase (SDR family) X-linked also known as DHRSX is an enzyme which in humans is encoded by the pseudoautosomal DHRSX gene.
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Gene dosage
Gene dosage is the number of copies of a particular gene present in a genome.
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Genetic recombination
Genetic recombination (aka genetic reshuffling) is the production of offspring with combinations of traits that differ from those found in either parent.
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Genome Reference Consortium
The Genome Reference Consortium (GRC) is an international collective of academic and research institutes with expertise in genome mapping, sequencing, and informatics, formed to improve the representation of reference genomes.
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Granulocyte-macrophage colony-stimulating factor receptor
The granulocyte-macrophage colony-stimulating factor receptor also known as CD116 (Cluster of Differentiation 116), is a receptor for granulocyte-macrophage colony-stimulating factor, which stimulates the production of white blood cells.
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GTPBP6
GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.
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Homology (biology)
In biology, homology is the existence of shared ancestry between a pair of structures, or genes, in different taxa.
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IL3RA
Interleukin 3 receptor, alpha (low affinity) (IL3RA), also known as CD123 (Cluster of Differentiation 123), is a human gene.
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Interleukin-3 receptor
The interleukin-3 receptor (also known as CD123 antigen) is a molecule found on cells which helps transmit the signal of interleukin-3, a soluble cytokine important in the immune system.
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Interleukin-9 receptor
Interleukin 9 receptor (IL9R) also known as CD129 (Cluster of Differentiation 129) is a type I cytokine receptor.
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Klinefelter syndrome
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
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Léri–Weill dyschondrosteosis
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).
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Madelung's deformity
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis.
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Meiosis
Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.
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Mouse
A mouse (Mus), plural mice, is a small rodent characteristically having a pointed snout, small rounded ears, a body-length scaly tail and a high breeding rate.
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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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N-acetylserotonin O-methyltransferase-like protein
N-acetylserotonin O-methyltransferase-like protein is an enzyme that in humans is encoded by the ASMTL gene.
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Nucleic acid hybridization
In molecular biology, hybridization (or hybridisation) is a phenomenon in which single-stranded deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) molecules anneal to complementary DNA or RNA.
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Nucleotide
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
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P2RY8
P2Y purinoceptor 8 is a protein that in humans is encoded by the P2RY8 gene.
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PLCXD1
Phosphatidylinositol-specific phospholipase C, X domain containing 1 also known as PLCXD1 is an enzyme which in humans is encoded by the PLCXD1 pseudoautosomal gene.
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PPP2R3B
Serine/threonine-protein phosphatase 2A regulatory subunit B subunit beta is an enzyme that in humans is encoded by the PPP2R3B gene.
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Pseudogene
Pseudogenes are segments of DNA that are related to real genes.
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Sexual reproduction
Sexual reproduction is a form of reproduction where two morphologically distinct types of specialized reproductive cells called gametes fuse together, involving a female's large ovum (or egg) and a male's smaller sperm.
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Short stature homeobox gene
The short stature homeobox (SHOX) gene is a gene, located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
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SLC25A6
ADP/ATP translocase 3 also known as solute carrier family 25 member 6 is a protein that in humans is encoded by the SLC25A6 gene.
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SPRY3
Protein sprouty homolog 3 is a protein that in humans is encoded by the SPRY3 gene.
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Synapsis
Synapsis (also called syndesis) is the pairing of two homologous chromosomes that occurs during meiosis.
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Telomere
A telomere is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes.
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Triple X syndrome
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.
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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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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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Xg antigen system
The XG antigen is a red blood cell surface antigen discovered in 1962.
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XYY syndrome
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
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Y chromosome
The Y chromosome is one of two sex chromosomes (allosomes) in mammals, including humans, and many other animals.
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ZBED1
Zinc finger BED domain-containing protein 1 is a protein that in humans is encoded by the ZBED1 gene.
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References
[1] https://en.wikipedia.org/wiki/Pseudoautosomal_region
