https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.32545
assoc w. SCZ+Chron’s
protective to Parkinson’s
Posts Tagged ‘keyabbrev’
The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia – Costas – 2018 – American Journal of Medical Genetics Part B: Neuropsychiatric Genetics – Wiley Online Library
April 7, 2019LDLR gene – Genetics Home Reference – NIH
April 7, 2019https://ghr.nlm.nih.gov/gene/LDLR
LDLR – 4X risk for heart attack (currently most) + 5X incr risk for LOF variants
DRD2 gene – Genetics Home Reference – NIH
April 7, 2019https://ghr.nlm.nih.gov/gene/DRD2
assoc w/ scz
dopamine receptor
Tess (given name) – Wikipedia
December 1, 2018Tess= Esther
https://en.m.wikipedia.org/wiki/Tess_(given_name)
rs12913832 – SNPedia
November 11, 2018https://www.snpedia.com/index.php/Rs12913832
AA – hom ref (Brown eyes)
GG – is blue eyes
rs4988235 – SNPedia
November 11, 2018https://www.snpedia.com/index.php/Rs4988235
QT:{{"
Also known as "C/T(-13910)", and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 is one of two SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in European Caucasian populations.
| (C;C) | 2.5 | likely to be lactose intolerant as an adult |
| (C;T) | 1.1 | likely to be able to digest milk as an adult |
| (T;T) | 1.1 | can digest milk |
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rs1815739 – SNPedia
November 11, 2018https://www.snpedia.com/index.php/Rs1815739
CC encodes RR in ACTN3, sprinter
TT "" stop-stop "" "", endurance athlete
Dopamine receptor D2 – Wikipedia – DRD2
November 3, 2018https://en.wikipedia.org/wiki/Dopamine_receptor_D2
QT:{{”
Dopamine receptor D2, also known as D2R, is a protein that, in humans, is encoded by the DRD2gene. After work from Paul Greengard’s lab had suggested that dopamine receptors were the site of action of antipsychotic drugs, several groups (including those of Solomon Snyder and Philip Seeman) used a radiolabeled antipsychotic drug to identify what is now known as the dopamine D2receptor.[5] The dopamine D2 receptor is the main receptor for most antipsychotic drugs. The structure of DRD2 in complex with the atypical antipsychotic risperidone has been determined.[6]
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NMDA receptor – Wikipedia
November 3, 2018https://en.wikipedia.org/wiki/NMDA_receptor
QT:{{”
The N-methyl-D-aspartate receptor (also known as the NMDA receptor or NMDAR), is a glutamate receptor and ion channel protein found in nerve cells. The NMDA receptor is one of three types of ionotropic glutamate receptors. The other receptors are the AMPA and kainate receptors. It is activated when glutamate and glycine (or D-serine) bind to it, and when activated it allows positively charged ions to flow through the cell membrane.[2] The NMDA receptor is very important for controlling synaptic plasticity and memory function.[3]
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