Sentences with phrase «for genes associated with the disease»

We also plan to look for genes associated with the disease in Old English Sheepdogs (OES) and Cocker Spaniels (CS), since these breeds are especially prone to ITP.

We will also look for genes associated with the disease in Old English Sheepdogs and Cocker Spaniels, since these breeds are especially prone to ITP.

Not exact matches

«Until recently we have been looking for individual genes associated with diseases, which drug companies then target with treatments.

While several studies in the intervening years have investigated whether particular genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an individual's whole genome to identify chromosomal regions containing variants that are associated with the disease traits that are being studied.

These products are designed to alter the expression of target genes in the body, suppressing expression of genes associated with disease, or restoring expression of genes required for health.

«For instance, the gene YWHAZ, involved in neuronal migration and plasticity, is associated with other diseases such as schizophrenia,» explains Cormand.

After his team first observed hair loss in Treg - deficient mice, Rosenblum learned that the genes associated with alopecia in previous studies are almost all related to Tregs, and treatments that boost Treg function have been shown to be an effective treatment for the disease.

The new finding is the latest evidence supporting a growing precision medicine model of psychiatric disease in which disruptions of certain genes during brain development contribute to a person's risk for multiple psychiatric disorders, with other genetic or epigenetic drivers, random developmental events, or environmental influences determining the specific disease an individual develops, said senior author Benjamin Cheyette, MD, PhD, an associate professor of psychiatry and a member of the UCSF Weill Institute for Neurosciences and the Kavli Institute for Fundamental Neuroscience at UCSF.

Harris cited other examples of concern — a review of 100 studies in the field of psychology in which the findings in only about a third of the studies were reproducible; an effort by scientists at Bayer, another large drug company, that managed to reproduce the findings of only one - quarter of the studies under review; a just - published review of 25 historical candidate genes for schizophrenia which found no evidence that the candidate genes are more associated with the disease than other genes.

To help in his hunt for disease genes, Pe'er founded The Ashkenazi Genome Consortium (TAGC) in September 2011 with Todd Lencz, an investigator at The Feinstein Institute for Medical Research, director of the Laboratory of Analytic Genomics at the Zucker Hillside Hospital, and associate professor of molecular medicine and psychiatry at the Hofstra North Shore - LIJ School of Medicine.

Scientists have known for a few years that a mutation in a gene coding for the protein troponin T is associated with the disease.

A gene associated with risk for Alzheimer's disease influences the gut microbiome of mice, potentiating a novel treatment strategy (Ishita Parikh, abstract 476.02, see attached summary).

«Given the fact that genomic analysis is becoming more common in patients with a personal or family history of cancer, we have an opportunity to do more targeted breast cancer screening in women who carry any of the genes associated with risk for this disease.»

Previous studies have identified a number of risk genes responsible for making proteins that are associated with the disease.

SAN FRANCISCO, CA — A scientific team led by the Gladstone Institutes and UC San Francisco has discovered that a common form of a gene already associated with long life also improves learning and memory, a finding that could have implications for treating age - related diseases like Alzheimer's.

Because it would not be feasible for a single laboratory to study each of the 50 or more genes implicated in type 1 diabetes with this approach, they decided to prioritize those genes that are also associated with other autoimmune diseases.

Examples of these include screening for cancer mutations and CpG methylation in hMLH1, p16, K - ras and B - raf, screening for other disease associated genes such as APOE, HFE, MTHFR, UBE3A and OCA2 associated with Angelman / Prader Willi syndrome.

ICER will develop a report assessing the comparative clinical effectiveness and value of voretigene neparvovec (LuxturnaTM, Spark Therapeutics), a potentially one - time gene therapy for vision loss associated with biallelic RPE65 - mediated retinal disease.

I look for genes, pathways, and candidate mutations associated with a disease, in order to understand the mechanism and the etiology of a disease, which may eventually lead to new therapeutic targets.

In the article describing the work in Molecular Therapy, co-authors Charis Himeda, Takako Jones and Peter Jones highlight the important implications for similar types of genetic diseases: «With increasing evidence that the repeat genome (comprising nearly half the human genome) plays important roles in gene regulation, additional diseases will likely be found associated with aberrant repetitive genomic sequences,» they wrWith increasing evidence that the repeat genome (comprising nearly half the human genome) plays important roles in gene regulation, additional diseases will likely be found associated with aberrant repetitive genomic sequences,» they wrwith aberrant repetitive genomic sequences,» they write.

In follow - up analyses, the investigators used RELI to probe regulatory genes associated with other autoimmune diseases and found that EBNA2 bound to genes associated with the risk for multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, type 1 diabetes, juvenile idiopathic arthritis and celiac disease.

In the current study, the researchers found that EBNA2 and its related transcription factors activate some of the human genes associated with the risk for lupus and several other autoimmune diseases, including multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, type 1 diabetes, juvenile idiopathic arthritis and celiac disease.

Classification and characterization of genes associated with traits of interest, such as those for fatty acid biosynthesis and disease resistance, were also limited.

Then we collected samples of Salmonella Bovismorbificans from different sources, geographical regions and years of isolation (UK veterinary samples) and compared them all, looking for anything in the array of genes that differentiated the arsenal of weapons in Salmonella Bovismorbificans, causing diarrhoea or symptoms associated with invasive disease.

The gene is also linked to formation of the amyloid - beta peptide associated with sticky plaque, one of the supposed hallmarks of the disease, but how ApoE4 actually brings or heightens risk for the disease is unclear.

Abbreviations: Aβ, amyloid β - peptide; AD, Alzheimer's disease; ALS, amyotrophic lateral sclerosis; Ambra1, activating molecule in Beclin -1-regulated autophagy; AMPK, AMP - activated protein kinase; APP, amyloid precursor protein; AR, androgen receptor; Atg, autophagy - related; AV, autophagic vacuole; Bcl, B - cell lymphoma; BH3, Bcl - 2 homology 3; CaMKKβ, Ca2 + - dependent protein kinase kinase β; CHMP2B, charged multivesicular body protein 2B; CMA, chaperone - mediated autophagy; 2 ′ 5 ′ ddA, 2 ′, 5 ′ - dideoxyadenosine; deptor, DEP - domain containing mTOR - interacting protein; DRPLA, dentatorubral pallidoluysian atrophy; 4E - BP1, translation initiation factor 4E - binding protein - 1; Epac, exchange protein directly activated by cAMP; ER, endoplasmic reticulum; ERK1 / 2, extracellular - signal - regulated kinase 1/2; ESCRT, endosomal sorting complex required for transport; FAD, familial AD; FDA, U.S. Food and Drug Administration; FIP200, focal adhesion kinase family - interacting protein of 200 kDa; FoxO3, forkhead box O3; FTD, frontotemporal dementia; FTD3, FTD linked to chromosome 3; GAP, GTPase - activating protein; GR, guanidine retinoid; GSK3, glycogen synthase kinase 3; HD, Huntington's disease; hiPSC, human induced pluripotent stem cell; hVps, mammalian vacuolar protein sorting homologue; IKK, inhibitor of nuclear factor κB kinase; IMPase, inositol monophosphatase; IP3R, Ins (1,4,5) P3 receptor; I1R, imidazoline - 1 receptor; JNK1, c - Jun N - terminal kinase 1; LC3, light chain 3; LD, Lafora disease; L - NAME, NG - nitro - L - arginine methyl ester; LRRK2, leucine - rich repeat kinase 2; MIPS, myo - inositol -1-phosphate synthase; mLST8, mammalian lethal with SEC13 protein 8; MND, motor neuron disease; mTOR, mammalian target of rapamycin; mTORC, mTOR complex; MVB, multivesicular body; NAC, N - acetylcysteine; NBR1, neighbour of BRCA1 gene 1; NOS, nitric oxide synthase; p70S6K, ribosomal protein S6 kinase - 1; PD, Parkinson's disease; PDK1, phosphoinositide - dependent kinase 1; PE, phosphatidylethanolamine; PI3K, phosphoinositide 3 - kinase; PI3KC1a, class Ia PI3K; PI3KC3, class III PI3K; PI3KK, PI3K - related protein kinase; PINK1, PTEN - induced kinase 1; PKA, protein kinase A; PLC, phospholipase C; polyQ, polyglutamine; PS, presenilin; PTEN, phosphatase and tensin homologue deleted from chromosome 10; Rag, Ras - related GTP - binding protein; raptor, regulatory - associated protein of mTOR; Rheb, Ras homologue enriched in brain; rictor, rapamycin - insensitive companion of mTOR; SBMA, spinobulbar muscular atrophy; SCA, spinocerebellar ataxia; SLC, solute carrier; SMER, small - molecule enhancer of rapamycin; SMIR, small - molecule inhibitor of rapamycin; SNARE, N - ethylmaleimide - sensitive factor - attachment protein receptor; SOD1, copper / zinc superoxide dismutase 1; TFEB, transcription factor EB; TOR, target of rapamycin; TSC, tuberous sclerosis complex; ULK1, UNC -51-like kinase 1; UVRAG, UV irradiation resistance - associated gene; VAMP, vesicle - associated membrane protein; v - ATPase, vacuolar H + - ATPase; Vps, vacuolar protein sorting

Isolated populations with enrichment of variants due to recent population bottlenecks provide a powerful resource for identifying disease - associated genetic variants and genes.

They also described the gene's size and genetic deletions associated with disease, including a very large deletion of the gene coding for dystrophin found in a patient with mild disease.

Mitochondrial folate transport by SLC25A32 is yet unstudied for its contribution to oncogenesis, despite knowledge that the slc25a32 gene is amplified in human cancers (including > 40 % of breast cancers) and this amplification is associated with accelerated disease progression and death.

TUESDAY, March 28, 2017 (HealthDay News)-- An increasing number of American women who don't have breast or ovarian cancer are being tested for BRCA and BRCA2 gene mutations associated with those diseases, a new study shows.

In one example of how the research has raised further questions for investigation, results indicate the genes associated with higher educational attainment were associated with decreased risk of Alzheimer's disease on average.

Although known to have neuronal cell functions STK38L has not previously been associated with abnormal photoreceptor function; being associated with such a disease in dogs establishes this gene as a potential candidate for similar diseases in other species, including man.

Whereas the genes implicated in early - onset diseases are those necessary for the correct development of photoreceptors the genes associated with later - onset forms of disease are those necessary for the long - term maintenance and function of these cells.

Genes associated with the following forms of inherited canine retinal diseases were tested for association using fragment analysis in 11 PRA - affected and 11 unaffected Swedish vallhund dogs: canine multifocal retinopathy (cmr; gene: BEST1)[8], [9], rod - cone dysplasia type 1 (rcd1; PDE6B) and type 3 (rcd3; PDE6A)[23]--[26], progressive rod - cone degeneration (prcd; PRCD)[27], canine Leber congenital amaurosis (LCA; RPE65)[6], [7], cone - rod dystrophy (crdSWHD, NPHP4)[28], and achromatopsia / cone degeneration (ACHM / cd; CNGB3)[29], [30].