keyword
MENU ▼
Read by QxMD icon Read
search

TRPC4AP

keyword
https://www.readbyqxmd.com/read/25340873/identification-of-genes-important-for-cutaneous-function-revealed-by-a-large-scale-reverse-genetic-screen-in-the-mouse
#1
Tia DiTommaso, Lynelle K Jones, Denny L Cottle, Anna-Karin Gerdin, Valerie E Vancollie, Fiona M Watt, Ramiro Ramirez-Solis, Allan Bradley, Karen P Steel, John P Sundberg, Jacqueline K White, Ian M Smyth
The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP). A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression...
October 2014: PLoS Genetics
https://www.readbyqxmd.com/read/24912477/exome-sequencing-of-hepatoblastoma-reveals-novel-mutations-and-cancer-genes-in-the-wnt-pathway-and-ubiquitin-ligase-complex
#2
Deshui Jia, Rui Dong, Ying Jing, Dan Xu, Qifeng Wang, Lei Chen, Qigen Li, Yuping Huang, Yuannv Zhang, Zhenfeng Zhang, Li Liu, Shan Zheng, Qiang Xia, Hongyang Wang, Kuiran Dong, Xianghuo He
UNLABELLED: Hepatoblastoma (HB) is the most common primary liver tumor in children. Mutations in the β-catenin gene that lead to constitutive activation of the Wnt pathway have been detected in a large proportion of HB tumors. To identify novel mutations in HB, we performed whole-exome sequencing of six paired HB tumors and their corresponding lymphocytes. This identified 24 somatic nonsynonymous mutations in 21 genes, many of which were novel, including three novel mutations targeting the CTNNB1 (G512V) and CAPRIN2 (R968H/S969C) genes in the Wnt pathway, and genes previously shown to be involved in the ubiquitin ligase complex (SPOP, KLHL22, TRPC4AP, and RNF169)...
November 2014: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/23070075/replication-of-bipolar-disorder-susceptibility-alleles-and-identification-of-two-novel-genome-wide-significant-associations-in-a-new-bipolar-disorder-case-control-sample
#3
E K Green, M Hamshere, L Forty, K Gordon-Smith, C Fraser, E Russell, D Grozeva, G Kirov, P Holmans, J L Moran, S Purcell, P Sklar, M J Owen, M C O'Donovan, L Jones, I R Jones, N Craddock
We have conducted a genotyping study using a custom Illumina Infinium HD genotyping array, the ImmunoChip, in a new UK sample of 1218 bipolar disorder (BD) cases and 2913 controls that have not been used in any studies previously reported independently or in meta-analyses. The ImmunoChip was designed before the publication of the Psychiatric Genome-Wide Association Study Consortium Bipolar Disorder Working Group (PGC-BD) meta-analysis data. As such 3106 single-nucleotide polymorphisms (SNPs) with a P-value <1 × 10(-3) from the BD meta-analysis by Ferreira et al...
December 2013: Molecular Psychiatry
https://www.readbyqxmd.com/read/20551172/myc-protein-is-stabilized-by-suppression-of-a-novel-e3-ligase-complex-in-cancer-cells
#4
Seung H Choi, Jason B Wright, Scott A Gerber, Michael D Cole
Rapid Myc protein turnover is critical for maintaining basal levels of Myc activity in normal cells and a prompt response to changing growth signals. We characterize a new Myc-interacting factor, TRPC4AP (transient receptor potential cation channel, subfamily C, member 4-associated protein)/TRUSS (tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein), which is the receptor for a DDB1 (damage-specific DNA-binding protein 1)-CUL4 (Cullin 4) E3 ligase complex for selective Myc degradation through the proteasome...
June 15, 2010: Genes & Development
https://www.readbyqxmd.com/read/20458742/truss-tnf-r1-and-trpc-ion-channels-synergistically-reverse-endoplasmic-reticulum-ca2-storage-reduction-in-response-to-m1-muscarinic-acetylcholine-receptor-signaling
#5
Kimberly E Mace, Marc P Lussier, Guylain Boulay, Jennifer L Terry-Powers, Helen Parfrey, Anne-Laure Perraud, David W H Riches
Although most signaling responses initiated by tumor necrosis factor-alpha (TNF-alpha) occur in a Ca(2+)-independent fashion, TNF-alpha receptor signaling augments Ca(2+) entry induced by Galpha(q/11) G-protein coupled receptors (GPCRs) in endothelial cells and increases trans-endothelial permeability. The signaling events involved in GPCR-induced Ca(2+) influx have been characterized and involve store-operated Ca(2+) entry facilitated by the Ca(2+) permeable ion channel, transient receptor potential canonical 4 (TRPC4)...
November 2010: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/19059308/the-frequency-of-the-trpc4ap-haplotype-in-alzheimer-s-patients
#6
S E Poduslo, R Huang, J Huang
A haplotype in the gene for transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), has been identified in two extended pedigrees with late-onset Alzheimer's disease. Nine of the SNPs in the haplotype were analyzed in our unrelated Alzheimer's patients and controls. The H1 haplotype was found in 36% of the patients (199 patients) and in 26% of the controls (85 controls) (P=0.0282; OR=1.56; 95%CI=1.05-2.32). The latent classification method of analysis showed that the H1 haplotype was characteristic of Alzheimer's patients, with ages-of-onset between 66 and 80 years...
February 6, 2009: Neuroscience Letters
https://www.readbyqxmd.com/read/18449908/genome-screen-of-late-onset-alzheimer-s-extended-pedigrees-identifies-trpc4ap-by-haplotype-analysis
#7
S E Poduslo, R Huang, J Huang, S Smith
Alzheimer's disease is a complex progressive neurodegenerative disorder with profound cognitive decline. Multiple susceptibility genetic variants have been identified with equivocal replication. While rare, collections of extended pedigrees with multiple affected family members are invaluable for genome-wide screens. We have used two extended pedigrees, having 14-15 siblings with four to five affected late-onset Alzheimer's disease patients in each, to identify the gene, transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), on chromosome 20q11...
January 5, 2009: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"