Posts Tagged ‘keyabbrev’

ADORA1 Gene – GeneCards | AA1R Protein | AA1R Antibody

October 12, 2019

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA1

Growth hormone receptor – Wikipedia

October 12, 2019

gene name: GHR
https://en.wikipedia.org/wiki/Growth_hormone_receptor

Complement Factor H Polymorphism in Age-Related Macular Degeneration

October 12, 2019

https://en.wikipedia.org/wiki/Factor_H

Complement Factor H Polymorphism in Age-Related Macular Degeneration

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/

gene name Cfh

HMGA2 – Wikipedia

October 12, 2019

HMGA2 – Wikipedia
Height gene

https://en.wikipedia.org/wiki/HMGA2

Catechol-O-methyltransferase – Wikipedia

October 12, 2019

COMT

Catechol-O-methyltransferase – Wikipedia
Intelligence gene
https://en.wikipedia.org/wiki/Catechol-O-methyltransferase

XIST – Wikipedia

October 12, 2019

https://en.wikipedia.org/wiki/XIST
also XIC

QT:{{”
Xist (X-inactive specific transcript) is an RNA gene on the X chromosome of the placental mammals that acts as a major effector of the X inactivation process.[4] It is a component of the Xic – X-chromosome inactivation centre[5] – along with two other RNA genes (Jpx and Ftx) and two protein genes (Tsx and Cnbp2).[6]
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Wikipedia:Too long; didn’t read – Wikipedia

October 12, 2019

https://en.wikipedia.org/wiki/Wikipedia:Too_long;_didn%27t_read
abbreviated TL;DR and tl;dr

Sodium/potassium/calcium exchanger 5 – Wikipedia

October 6, 2019

QT:{{”
Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation.[5] The NCKX5 protein is a member of the
potassium-dependent sodium/calcium exchanger family. Sequence variation in the SLC24A5 gene, particularly a non-synonymous SNP changing the amino acid at position 111 in NCKX5 from alanine to threonine, has been associated with differences in skin
pigmentation.[6]
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https://en.wikipedia.org/wiki/Sodium/potassium/calcium_exchanger_5

Cc2d2a Chemically induced Allele Detail MGI Mouse (MGI:5311382)

August 19, 2019

http://www.informatics.jax.org/allele/MGI:5311382

b2b1035Clo = Blue meanie mutation

QT:{{”
Cc2d2ab2 ^ b1035Clo
Name:coiled-coil and C2 domain containing 2A; Bench to Bassinet Program (B2B/CVDC), mutation 1035 Cecilia Lo
MGI ID:MGI:5311382
Synonyms:Blue meanie
Gene:Cc2d2a Location: Chr5:43662373-43740975 bp, + strand Genetic Position: Chr5, 23.78 cM
Heterotaxy indicated by left lung isomerism with left sided IVC and TGA (observed by EFIC imaging)


Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 2845 in exon 23 of the cDNA (c.2845C>T, NM_172274). This changes the arginine residue to a translation stop at position 949 of the encoded protein (p.R949*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cc2d2ab2b1035Clo, and may be present in stocks carrying this mutation.
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SHANK3 | Spectrum | Autism Research News

July 19, 2019

https://www.spectrumnews.org/wiki/shank3/

From Zhu et al. Science (’18)
QT:{{”
Further analysis revealed that the ASD-associated genes SHANK2 and SHANK3, which encode synaptic scaffolding proteins at the postsynaptic density of excitatory glutamatergic synapses, exhibited earlier expression in the macaque NCX and other brain regions relative to humans (Fig. 7B).
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