Integration of the unfolded protein and oxidative stress responses through SKN-1/Nrf.

abstract：:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, ha...

journal_title：PLoS genetics

authors： Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

更新日期：2020-11-20 00:00:00

abstract：:The Cleavage Factor 1A (CF1A) complex, which is required for the termination of transcription in budding yeast, occupies the 3' end of transcriptionally active genes. We recently demonstrated that CF1A subunits also crosslink to the 5' end of genes during transcription. The presence of CF1A complex at the promoter sug...

journal_title：PLoS genetics

authors： Al Husini N,Kudla P,Ansari A

更新日期：2013-01-01 00:00:00

abstract：:The C. elegans germline is pluripotent and mitotic, similar to self-renewing mammalian tissues. Apoptosis is triggered as part of the normal oogenesis program, and is increased in response to various stresses. Here, we examined the effect of endoplasmic reticulum (ER) stress on apoptosis in the C. elegans germline. We...

journal_title：PLoS genetics

authors： Levi-Ferber M,Salzberg Y,Safra M,Haviv-Chesner A,Bülow HE,Henis-Korenblit S

更新日期：2014-10-23 00:00:00

abstract：:ATP-dependent chromatin remodelers control DNA access for transcription, recombination, and other processes. Acf1 (also known as BAZ1A in mammals) is a defining subunit of the conserved ISWI-family chromatin remodelers ACF and CHRAC, first purified over 15 years ago from Drosophila melanogaster embryos. Much is known ...

journal_title：PLoS genetics

authors： Dowdle JA,Mehta M,Kass EM,Vuong BQ,Inagaki A,Egli D,Jasin M,Keeney S

更新日期：2013-11-01 00:00:00

abstract：:Human FTO gene variants are associated with body mass index and type 2 diabetes. Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO expression or splicing are the cause of obesity or if regulatory elements within intron 1 influence upstream or downstream genes. We tested the idea th...

journal_title：PLoS genetics

authors： Church C,Lee S,Bagg EA,McTaggart JS,Deacon R,Gerken T,Lee A,Moir L,Mecinović J,Quwailid MM,Schofield CJ,Ashcroft FM,Cox RD

更新日期：2009-08-01 00:00:00

abstract：:In Drosophila, ubiquitous expression of a short Cyclin G isoform generates extreme developmental noise estimated by fluctuating asymmetry (FA), providing a model to tackle developmental stability. This transcriptional cyclin interacts with chromatin regulators of the Enhancer of Trithorax and Polycomb (ETP) and Polyco...

journal_title：PLoS genetics

authors： Dardalhon-Cuménal D,Deraze J,Dupont CA,Ribeiro V,Coléno-Costes A,Pouch J,Le Crom S,Thomassin H,Debat V,Randsholt NB,Peronnet F

更新日期：2018-07-11 00:00:00

abstract：:The sterol regulatory element-binding protein (SREBP) family member SREBP1 is a critical transcriptional regulator of cholesterol and fatty acid metabolism and has been implicated in insulin resistance, diabetes, and other diet-related diseases. We globally identified the promoters occupied by SREBP1 and its binding p...

journal_title：PLoS genetics

authors： Reed BD,Charos AE,Szekely AM,Weissman SM,Snyder M

更新日期：2008-07-25 00:00:00

abstract：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00

abstract：:In non-motile fungi, sexual reproduction relies on strong morphogenetic changes in response to pheromone signaling. We report here on a systematic screen for morphological abnormalities of the mating process in fission yeast Schizosaccharomyces pombe. We derived a homothallic (self-fertile) collection of viable deleti...

journal_title：PLoS genetics

authors： Dudin O,Merlini L,Bendezú FO,Groux R,Vincenzetti V,Martin SG

更新日期：2017-04-14 00:00:00

abstract：:The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similari...

journal_title：PLoS genetics

authors： Morgan NV,Morris MR,Cangul H,Gleeson D,Straatman-Iwanowska A,Davies N,Keenan S,Pasha S,Rahman F,Gentle D,Vreeswijk MP,Devilee P,Knowles MA,Ceylaner S,Trembath RC,Dalence C,Kismet E,Köseoğlu V,Rossbach HC,Gissen P,

更新日期：2010-02-05 00:00:00

abstract：:The mitochondrial beta-oxidation system is one of the central metabolic pathways of energy metabolism in mammals. Enzyme defects in this pathway cause fatty acid oxidation disorders. To elucidate the role of 2,4-dienoyl-CoA reductase (DECR) as an auxiliary enzyme in the mitochondrial beta-oxidation of unsaturated fatt...

journal_title：PLoS genetics

authors： Miinalainen IJ,Schmitz W,Huotari A,Autio KJ,Soininen R,Ver Loren van Themaat E,Baes M,Herzig KH,Conzelmann E,Hiltunen JK

更新日期：2009-07-01 00:00:00

abstract：:Male fertility requires the continuous production of high quality motile spermatozoa in abundance. Alterations in all three metrics cause oligoasthenoteratozoospermia, the leading cause of human sub/infertility. Post-mitotic spermatogenesis inclusive of several meiotic stages and spermiogenesis (terminal spermatozoa d...

journal_title：PLoS genetics

authors： Comazzetto S,Di Giacomo M,Rasmussen KD,Much C,Azzi C,Perlas E,Morgan M,O'Carroll D

更新日期：2014-10-16 00:00:00

abstract：:Mating-type switching is a complex mechanism that promotes sexual reproduction in Saccharomycotina. In the model species Saccharomyces cerevisiae, mating-type switching is initiated by the Ho endonuclease that performs a site-specific double-strand break (DSB) at MAT, repaired by homologous recombination (HR) using on...

journal_title：PLoS genetics

authors： Maroc L,Zhou-Li Y,Boisnard S,Fairhead C

更新日期：2020-10-15 00:00:00

abstract：:Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the domin...

journal_title：PLoS genetics

authors： Dorshorst B,Molin AM,Rubin CJ,Johansson AM,Strömstedt L,Pham MH,Chen CF,Hallböök F,Ashwell C,Andersson L

更新日期：2011-12-01 00:00:00

abstract：:The pentatricopeptide repeat (PPR) is a helical repeat motif found in an exceptionally large family of RNA-binding proteins that functions in mitochondrial and chloroplast gene expression. PPR proteins harbor between 2 and 30 repeats and typically bind single-stranded RNA in a sequence-specific fashion. However, the b...

journal_title：PLoS genetics

authors： Barkan A,Rojas M,Fujii S,Yap A,Chong YS,Bond CS,Small I

更新日期：2012-01-01 00:00:00

abstract：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 00:00:00

abstract：:Methylation of histone H3 lysine 4 (H3K4me) is an evolutionarily conserved modification whose role in the regulation of gene expression has been extensively studied. In contrast, the function of H3K4 acetylation (H3K4ac) has received little attention because of a lack of tools to separate its function from that of H3K...

journal_title：PLoS genetics

authors： Guillemette B,Drogaris P,Lin HH,Armstrong H,Hiragami-Hamada K,Imhof A,Bonneil E,Thibault P,Verreault A,Festenstein RJ

更新日期：2011-03-01 00:00:00

abstract：:Nonreplicating type I uracil auxotrophic mutants of Toxoplasma gondii possess a potent ability to activate therapeutic immunity to established solid tumors by reversing immune suppression in the tumor microenvironment. Here we engineered targeted deletions of parasite secreted effector proteins using a genetically tra...

journal_title：PLoS genetics

authors： Fox BA,Sanders KL,Rommereim LM,Guevara RB,Bzik DJ

更新日期：2016-07-22 00:00:00

abstract：:Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk syncytial layer (YSL) to move lipids from yolk to growing tissues. Disruptions in B-lp produ...

journal_title：PLoS genetics

authors： Wilson MH,Rajan S,Danoff A,White RJ,Hensley MR,Quinlivan VH,Recacha R,Thierer JH,Tan FJ,Busch-Nentwich EM,Ruddock L,Hussain MM,Farber SA

更新日期：2020-08-06 00:00:00

abstract：:Gene regulatory information guides development and shapes the course of evolution. To test conservation of gene regulation within the phylum Nematoda, we compared the functions of putative cis-regulatory sequences of four sets of orthologs (unc-47, unc-25, mec-3 and elt-2) from distantly-related nematode species. Thes...

journal_title：PLoS genetics

authors： Gordon KL,Arthur RK,Ruvinsky I

更新日期：2015-05-28 00:00:00

abstract：:Exome sequencing has been widely used in detecting pathogenic nonsynonymous single nucleotide variants (SNVs) for human inherited diseases. However, traditional statistical genetics methods are ineffective in analyzing exome sequencing data, due to such facts as the large number of sequenced variants, the presence of ...

journal_title：PLoS genetics

authors： Wu J,Li Y,Jiang R

更新日期：2014-03-20 00:00:00

abstract：:Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number ...

journal_title：PLoS genetics

authors： Pylkäs K,Vuorela M,Otsukka M,Kallioniemi A,Jukkola-Vuorinen A,Winqvist R

更新日期：2012-01-01 00:00:00

abstract：:In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...

journal_title：PLoS genetics

authors： Marchant TW,Dietschi E,Rytz U,Schawalder P,Jagannathan V,Hadji Rasouliha S,Gurtner C,Waldvogel AS,Harrington RS,Drögemüller M,Kidd J,Ostrander EA,Warr A,Watson M,Argyle D,Ter Haar G,Clements DN,Leeb T,Schoenebeck JJ

更新日期：2019-05-16 00:00:00

abstract：:Human neutrophil antigen 2 (HNA-2) deficiency is a common phenotype as 3-5% humans do not express HNA-2. HNA-2 is coded by CD177 gene that associates with human myeloproliferative disorders. HNA-2 deficient individuals are prone to produce HNA-2 alloantibodies that cause a number of disorders including transfusion-rel...

journal_title：PLoS genetics

authors： Li Y,Mair DC,Schuller RM,Li L,Wu J

更新日期：2015-05-29 00:00:00

abstract：:During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...

journal_title：PLoS genetics

authors： Pattabiraman D,Roelens B,Woglar A,Villeneuve AM

更新日期：2017-03-24 00:00:00

abstract：:Although a considerable proportion of serum lipids loci identified in European ancestry individuals (EA) replicate in African Americans (AA), interethnic differences in the distribution of serum lipids suggest that some genetic determinants differ by ethnicity. We conducted a comprehensive evaluation of five lipid can...

journal_title：PLoS genetics

authors： Bentley AR,Chen G,Shriner D,Doumatey AP,Zhou J,Huang H,Mullikin JC,Blakesley RW,Hansen NF,Bouffard GG,Cherukuri PF,Maskeri B,Young AC,Adeyemo A,Rotimi CN

更新日期：2014-03-06 00:00:00

abstract：:Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders are not well understood. Among recent advances is that the disease sta...

journal_title：PLoS genetics

authors： Xie HB,Cammarato A,Rajasekaran NS,Zhang H,Suggs JA,Lin HC,Bernstein SI,Benjamin IJ,Golic KG

更新日期：2013-06-01 00:00:00

abstract：:Microtubule-microfilament interactions are important for cytokinesis and subcellular localization of proteins and mRNAs. In the early zebrafish embryo, astral microtubule-microfilament interactions also facilitate a stereotypic segregation pattern of germ plasm ribonucleoparticles (GP RNPs), which is critical for thei...

journal_title：PLoS genetics

authors： Nair S,Marlow F,Abrams E,Kapp L,Mullins MC,Pelegri F

更新日期：2013-04-01 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 00:00:00

abstract：:Patients with neonatal severe hyperparathyroidism (NSHPT) are homozygous for the calcium-sensing receptor (CaR) mutation and have very high circulating PTH, abundant parathyroid hyperplasia, and severe life-threatening hypercalcemia. Mice with homozygous deletion of CaR mimic the syndrome of NSHPT. To determine effect...

journal_title：PLoS genetics

authors： Liu J,Lv F,Sun W,Tao C,Ding G,Karaplis A,Brown E,Goltzman D,Miao D

更新日期：2011-09-01 00:00:00