Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

abstract：:With the increasing focus of genetic association on the identification of trait-associated rare variants through sequencing, it is important to identify the most cost-effective sequencing strategies for these studies. Deep sequencing will accurately detect and genotype the most rare variants per individual, but may li...

journal_title：PLoS genetics

authors： Rashkin S,Jun G,Chen S,Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).,Abecasis GR

更新日期：2017-06-22 00:00:00

abstract：:Dietary restriction (DR) is the most consistent means of extending longevity in a wide range of organisms. A growing body of literature indicates that mitochondria play an important role in longevity extension by DR, but the impact of mitochondrial genotypes on the DR process have received little attention. Mitochondr...

journal_title：PLoS genetics

authors： Zhu CT,Ingelmo P,Rand DM

更新日期：2014-05-15 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：:White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from...

journal_title：PLoS genetics

authors： Nalls MA,Couper DJ,Tanaka T,van Rooij FJ,Chen MH,Smith AV,Toniolo D,Zakai NA,Yang Q,Greinacher A,Wood AR,Garcia M,Gasparini P,Liu Y,Lumley T,Folsom AR,Reiner AP,Gieger C,Lagou V,Felix JF,Völzke H,Gouskova NA,B

更新日期：2011-06-01 00:00:00

abstract：:Sensitivity to pain varies considerably between individuals and is known to be heritable. Increased sensitivity to experimental pain is a risk factor for developing chronic pain, a common and debilitating but poorly understood symptom. To understand mechanisms underlying pain sensitivity and to search for rare gene va...

journal_title：PLoS genetics

authors： Williams FM,Scollen S,Cao D,Memari Y,Hyde CL,Zhang B,Sidders B,Ziemek D,Shi Y,Harris J,Harrow I,Dougherty B,Malarstig A,McEwen R,Stephens JC,Patel K,Menni C,Shin SY,Hodgkiss D,Surdulescu G,He W,Jin X,McMahon S

更新日期：2012-01-01 00:00:00

abstract：:The coordination of growth with nutritional status is essential for proper development and physiology. Nutritional information is mostly perceived by peripheral organs before being relayed to the brain, which modulates physiological responses. Hormonal signaling ensures this organ-to-organ communication, and the failu...

journal_title：PLoS genetics

authors： Sano H,Nakamura A,Texada MJ,Truman JW,Ishimoto H,Kamikouchi A,Nibu Y,Kume K,Ida T,Kojima M

更新日期：2015-05-28 00:00:00

abstract：:The unfolded protein response (UPR) is an adaptive signaling pathway utilized to sense and alleviate the stress of protein folding in the endoplasmic reticulum (ER). In mammals, the UPR is mediated through three proximal sensors PERK/PEK, IRE1, and ATF6. PERK/PEK is a protein kinase that phosphorylates the alpha subun...

journal_title：PLoS genetics

authors： Shen X,Ellis RE,Sakaki K,Kaufman RJ

更新日期：2005-09-01 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 00:00:00

abstract：:We recently showed that cassette integration and deletion in integron platforms were occurring through unconventional site-specific recombination reactions involving only the bottom strand of attC sites. The lack of sequence conservation among attC sites led us to hypothesize that sequence-independent structural recog...

journal_title：PLoS genetics

authors： Bouvier M,Ducos-Galand M,Loot C,Bikard D,Mazel D

更新日期：2009-09-01 00:00:00

abstract：:For many decades, Salmonella enterica has been subdivided by serological properties into serovars or further subdivided for epidemiological tracing by a variety of diagnostic tests with higher resolution. Recently, it has been proposed that so-called eBurst groups (eBGs) based on the alleles of seven housekeeping gene...

journal_title：PLoS genetics

authors： Alikhan NF,Zhou Z,Sergeant MJ,Achtman M

更新日期：2018-04-05 00:00:00

abstract：:An important goal in molecular evolution is to understand the genetic and physical mechanisms by which protein functions evolve and, in turn, to characterize how a protein's physical architecture influences its evolution. Here we dissect the mechanisms for an evolutionary shift in function in the mollusk ortholog of t...

journal_title：PLoS genetics

authors： Bridgham JT,Keay J,Ortlund EA,Thornton JW

更新日期：2014-01-01 00:00:00

abstract：:Signaling pathways enable cells to sense and respond to their environment. Many cellular signaling strategies are conserved from fungi to humans, yet their activity and phenotypic consequences can vary extensively among individuals within a species. A systematic assessment of the impact of naturally occurring genetic ...

journal_title：PLoS genetics

authors： Treusch S,Albert FW,Bloom JS,Kotenko IE,Kruglyak L

更新日期：2015-01-08 00:00:00

abstract：:The bHLH transcription factor, Phytochrome Interacting Factor 3 (PIF3), interacts specifically with the photoactivated, Pfr, form of Arabidopsis phytochrome B (phyB). This interaction induces PIF3 phosphorylation and degradation in vivo and modulates phyB-mediated seedling deetiolation in response to red light. To ide...

journal_title：PLoS genetics

authors： Kikis EA,Oka Y,Hudson ME,Nagatani A,Quail PH

更新日期：2009-01-01 00:00:00

abstract：:Mutants of trt-1, the Caenorhabditis elegans telomerase reverse transcriptase, reproduce normally for several generations but eventually become sterile as a consequence of telomere erosion and end-to-end chromosome fusions. Telomere erosion and uncapping do not cause an increase in apoptosis in the germlines of trt-1 ...

journal_title：PLoS genetics

authors： Meier B,Clejan I,Liu Y,Lowden M,Gartner A,Hodgkin J,Ahmed S

更新日期：2006-02-01 00:00:00

abstract：:It has been suggested that genetic susceptibility plays an important role in the pathogenesis of diabetic nephropathy. A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB)...

journal_title：PLoS genetics

authors： Maeda S,Kobayashi MA,Araki S,Babazono T,Freedman BI,Bostrom MA,Cooke JN,Toyoda M,Umezono T,Tarnow L,Hansen T,Gaede P,Jorsal A,Ng DP,Ikeda M,Yanagimoto T,Tsunoda T,Unoki H,Kawai K,Imanishi M,Suzuki D,Shin HD,Pa

更新日期：2010-02-12 00:00:00

abstract：:The mechanism underlying immune system recognition of different types of pathogens has been extensively studied over the past few decades; however, the mechanism by which healthy self-tissue evades an attack by its own immune system is less well-understood. Here, we established an autoimmune model of melanotic mass fo...

journal_title：PLoS genetics

authors： Kim MJ,Choe KM

更新日期：2014-10-16 00:00:00

abstract：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 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：: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

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:Immunoregulatory cytokine interleukin-10 (IL-10) is elevated in sera from patients with systemic lupus erythematosus (SLE) correlating with disease activity. The established association of IL10 with SLE and other autoimmune diseases led us to fine map causal variant(s) and to explore underlying mechanisms. We assessed...

journal_title：PLoS genetics

authors： Sakurai D,Zhao J,Deng Y,Kelly JA,Brown EE,Harley JB,Bae SC,Alarcόn-Riquelme ME,BIOLUPUS and GENLES networks.,Edberg JC,Kimberly RP,Ramsey-Goldman R,Petri MA,Reveille JD,Vilá LM,Alarcón GS,Kaufman KM,Vyse TJ,Jacob CO,

更新日期：2013-01-01 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation. In the mouse, the existence of an intragenomic conflict between X- and Y-linked mult...

journal_title：PLoS genetics

authors： Cocquet J,Ellis PJ,Mahadevaiah SK,Affara NA,Vaiman D,Burgoyne PS

更新日期：2012-09-01 00:00:00

abstract：:The phenotype of the spontaneous mutant mouse hop-sterile (hop) is characterized by a hopping gait, polydactyly, hydrocephalus, and male sterility. Previous analyses of the hop mouse revealed a deficiency of inner dynein arms in motile cilia and a lack of sperm flagella, potentially accounting for the hydrocephalus an...

journal_title：PLoS genetics

authors： Swiderski RE,Nakano Y,Mullins RF,Seo S,Bánfi B

更新日期：2014-10-23 00:00:00

abstract：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 00:00:00

abstract：:Starvation of cells for the DNA building block dTTP is strikingly lethal (thymineless death, TLD), and this effect is observed in all organisms. The phenomenon, discovered some 60 years ago, is widely used to kill cells in anticancer therapies, but many questions regarding the precise underlying mechanisms have remain...

journal_title：PLoS genetics

authors： Itsko M,Schaaper RM

更新日期：2014-05-08 00:00:00

abstract：:Histone modifiers are critical regulators of chromatin-based processes in eukaryotes. The histone methyltransferase Set1, a component of the Set1C/COMPASS complex, catalyzes the methylation at lysine 4 of histone H3 (H3K4me), a hallmark of euchromatin. Here, we show that the fission yeast Schizosaccharomyces pombe Set...

journal_title：PLoS genetics

authors： Mikheyeva IV,Grady PJ,Tamburini FB,Lorenz DR,Cam HP

更新日期：2014-10-30 00:00:00

abstract：:The Core Binding Factor (CBF) protein RUNX1 is a master regulator of definitive hematopoiesis, crucial for hematopoietic stem cell (HSC) emergence during ontogeny. RUNX1 also plays vital roles in adult mice, in regulating the correct specification of numerous blood lineages. Akin to the other mammalian Runx genes, Run...

journal_title：PLoS genetics

authors： Draper JE,Sroczynska P,Tsoulaki O,Leong HS,Fadlullah MZ,Miller C,Kouskoff V,Lacaud G

更新日期：2016-01-25 00:00:00

abstract：:Regulated nuclear entry of clock proteins is a conserved feature of eukaryotic circadian clocks and serves to separate the phase of mRNA activation from mRNA repression in the molecular feedback loop. In Drosophila, nuclear entry of the clock proteins, PERIOD (PER) and TIMELESS (TIM), is tightly controlled, and impair...

journal_title：PLoS genetics

authors： Jang AR,Moravcevic K,Saez L,Young MW,Sehgal A

更新日期：2015-02-12 00:00:00