Sentences with phrase «gene families associated»

The results revealed that the gene families associated with stress - responsive proteins and anaerobic metabolism were expanded.

In addition, researchers found that the gene families related to whale's body hair and sensory receptors were contracted, such as Keratin - related gene families associated with hair formation, several Hox genes that play an important role in the body plan and embryonic development.

C. krusei, they found, has few copies of gene families associated with pathogenesis in C. albicans, including oligopeptide transporters, aspartyl proteases, and phospholipase B genes.

To understand the genetic shifts underlying the repeated origins of mycorrhizal lifestyles, the researchers focused on enzymes that degrade plant cell walls from 16 gene families associated with plant cell wall degradation.

«The exciting thing here is the expansion of a gene family associated with expression in specific neurons,» says Evan Eichler, a geneticist at the University of Washington, Seattle.

Not exact matches

Unlike other autoimmune disorders with associated risk factors, APECED is clearly caused by a mutation in a single gene, based on analyses of affected families.

Most cases of familial hypolipidemia are linked to other gene mutations that cause liver and digestive problems, but in members of this American family with the condition, Musunuru found mutations in the gene for ANGPTL3, and no associated health problems.

Michele Carbone and colleagues, from the University of Hawaii, discovered that members of 4 families, apparently unrelated and living in different US States, shared the identical mutation of a gene called BAP1 that is associated with a higher incidence of mesothelioma, melanoma, renal carcinoma and other cancers.

Researchers studying two generations of a family affected by pediatric acute lymphoblastic leukemia (ALL) have identified an inherited variation in the ETV6 gene that is associated with an increased risk of developing the disease.

The goal now is «to find the subtle genetic differences between individuals in the genes or families of genes associated with longevity,» says Judith Campisi, a senior scientist at the Lawrence Berkeley National Laboratory in California.

He says the gene also works with another gene family, SLITRK, which has also been associated with OCD in animals.

Through genetic analysis of a family with a history of thoracic aortic aneurysm and dissection (TAAD), investigators at Brigham and Women's Hospital and Washington University School of Medicine in St. Louis have identified mutations in the LOX gene, a gene associated with the integrity of the arterial wall, in human subjects for the first time.

Researchers suspect an autoimmune reaction is to blame because many people who develop narcolepsy — and just about everyone with the vaccine - associated form — have a specific variant in a gene in the HLA family, which helps the body distinguish its own proteins from those made by microbial invaders.

For a decade, efforts to pinpoint speech - and language - associated genes have centered around a British family known to researchers as «KE.»

«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.»

«Basically, most of our knowledge of what genes are important for environmental adaptation of trees has been educated guessing built on studies in the model plant, Arabidopsis, which is a member of the mustard family» said Amy Brunner, associate professor of molecular genetics in Virginia Tech's College of Natural Resources and Environment.

«Basically, most of our knowledge of what genes are important for environmental adaptation of trees has been educated guessing built on studies in the model plant, Arabidopsis, which is a member of the mustard family» said Amy Brunner, an associate professor of molecular genetics in Virginia Tech's College of Natural Resources and Environment.

Moreover, our previous study found that regular use of aspirin after diagnosis was associated with longer survival among the 15 % to 30 % of patients with colorectal cancer and with a mutation in phosphatidylinositol -4,5-bisphosphate 3 - kinase, catalytic subunit alpha (PIK3CA [NCBI Entrez Gene 5290]-RRB-, one of the PI3K family genes.30 Markedly improved survival associated with aspirin according to PIK3CA status was also found in an analysis within a separate clinical trial cohort.31 Further investigations for the joint effect of these genes would be helpful to better understand the underlying molecular mechanisms of aspirin, NSAIDs, and colorectal cancer.

The advent of microarray technology, with its capacity to monitor the expression of thousands of genes simultaneously, has provided a novel opportunity to identify individual genes, groups of genes, and related «gene families» associated with a given biologic process.

We discuss the critical role of the BRCA gene family in signaling pathways (including angiogenesis) and evaluate the impacts of the loss - of - function mutations associated with the aforementioned disease.

In the absence of Wnt signaling, we found that Tcf factors associate with proteins of the Groucho family of transcriptional repressors to repress target gene transcription.

The genome encodes a large number of novel receptor kinases and contains expansions of a variety of gene families, including those associated with virulence.

«We knew that these genes in the Tbx family are important determinants in whether a limb becomes a hind or fore limb,» said Juan Carlos Izpisúa Belmonte, Salk associate professor and senior author on the study, which appears in the current issue of Nature.

Four of the genes are in gene families strongly associated with cancer pathogenesis (PTPRT, CDH24, PCLKC, and SLC15A1).

Furthermore, three of four affected family members carried a rare variant in the TSHZ3 gene, also associated with AβPP processing.

DAXX associates with RelB, a transcription factor of the NF - κB family that directly controls the expression of numerous apoptosis - and autophagy - relevant genes, including tumor suppressor protein kinases DAPK1 / 3 [1; 2].

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

Recently, biallelic mutations in the KLHL7 gene were reported in four families and associated with CS / CISS1, characterised by clinical features overlapping with our patients.

Two related potassium (K +) channel defects in benign familial neonatal convulsions (BFNC) have recently been identified.9 10 A defect in a receptor for a different neurotransmitter (acetylcholine) has previously been identified in a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) 11, which was later shown to affect calcium (Ca +) movement.12 In humans, so far, there has not been any success in identifying genes associated with more common primary epilepsy syndromes such as juvenile absence epilepsy and juvenile myoclonic epilepsy (JME).13 No gene or marker linked to an epilepsy gene has been identified in any dog breed, as yet.

Whole - exome sequencing of 1,000 families has identified six genes associated with Autism Spectrum Disorder: chd8, dyrk1a, grin2b, katnal2, pogz and scn2a.

«We are excited to become part of the D4 family,» said Gene Tenuta, former Co-founder of SDS and D4's new Associate Managing Director.

Philadelphia, PA About Blog Philly Family Life Counseling, LLC, the practice of Dr. Gene Devers and Associates, specializes in changing lives and relationships.

In their study they found a point mutation in the structural gene for monoamine oxidase A (MAOA), a neurochemical in the brain, which they associated with aggressive criminal behavior among a number of males in that family (Alper, 1995).

In boys, low - activity monoamine oxidase A gene was associated with increases in child anxiety and depression in interaction with caretaker depression, hostility, family conflict, and family stress.

When Ann Marie McManus, CRS ®, GRI, vice president and broker - associate at Meybohm Realty Inc. in Augusta, Ga., married her husband, Gene, almost 18 years ago, she assumed they were on the same page when it came to family life.