Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.

abstract：:Arsenic is a well-established human carcinogen of poorly understood mechanism of genotoxicity. It is generally accepted that arsenic acts indirectly by generating oxidative DNA damage that can be converted to replication-dependent DNA double-strand breaks (DSBs), as well as by interfering with DNA repair pathways and ...

journal_title：PLoS genetics

authors： Litwin I,Bocer T,Dziadkowiec D,Wysocki R

更新日期：2013-01-01 00:00:00

abstract：:Comparisons between diverse vertebrate genomes have uncovered thousands of highly conserved non-coding sequences, an increasing number of which have been shown to function as enhancers during early development. Despite their extreme conservation over 500 million years from humans to cartilaginous fish, these elements ...

journal_title：PLoS genetics

authors： McEwen GK,Goode DK,Parker HJ,Woolfe A,Callaway H,Elgar G

更新日期：2009-12-01 00:00:00

abstract：:Long interspersed nuclear element-1s (LINE-1s, or L1s) are an active family of retrotransposable elements that continue to mutate mammalian genomes. Despite the large contribution of L1 to mammalian genome evolution, we do not know where active L1 particles (particles in the process of retrotransposition) are located ...

journal_title：PLoS genetics

authors： Horn AV,Celic I,Dong C,Martirosyan I,Han JS

更新日期：2017-06-06 00:00:00

abstract：:A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional rep...

journal_title：PLoS genetics

authors： Sanchez JC,Kwan EX,Pohl TJ,Amemiya HM,Raghuraman MK,Brewer BJ

更新日期：2017-10-16 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00

abstract：:A variety of human diseases arise from mutations that alter muscle contraction. Evolutionary conservation allows genetic studies in Drosophila melanogaster to be used to better understand these myopathies and suggest novel therapeutic strategies. Integrin-mediated adhesion is required to support muscle structure and f...

journal_title：PLoS genetics

authors： Pronovost SM,Beckerle MC,Kadrmas JL

更新日期：2013-03-01 00:00:00

abstract：:Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA t...

journal_title：PLoS genetics

authors： Abraham G,Tye-Din JA,Bhalala OG,Kowalczyk A,Zobel J,Inouye M

更新日期：2014-02-13 00:00:00

abstract：:Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted out...

journal_title：PLoS genetics

authors： Thouvenot P,Ben Yamin B,Fourrière L,Lescure A,Boudier T,Del Nery E,Chauchereau A,Goldgar DE,Houdayer C,Stoppa-Lyonnet D,Nicolas A,Millot GA

更新日期：2016-06-06 00:00:00

abstract：:At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...

journal_title：PLoS genetics

authors： Baker EP,Hittinger CT

更新日期：2019-04-04 00:00:00

abstract：:We have recently shown that hypomorphic Mre11 complex mouse mutants exhibit defects in the repair of meiotic double strand breaks (DSBs). This is associated with perturbation of synaptonemal complex morphogenesis, repair and regulation of crossover formation. To further assess the Mre11 complex's role in meiotic progr...

journal_title：PLoS genetics

authors： Adelman CA,Petrini JH

更新日期：2008-03-28 00:00:00

abstract：:The oligodendrocyte density is greater and myelin sheaths are thicker in the adult male mouse brain when compared with females. Here, we show that these sex differences emerge during the first 10 postnatal days, precisely at a stage when a late wave of oligodendrocyte progenitor cells arises and starts differentiating...

journal_title：PLoS genetics

authors： Abi Ghanem C,Degerny C,Hussain R,Liere P,Pianos A,Tourpin S,Habert R,Macklin WB,Schumacher M,Ghoumari AM

更新日期：2017-11-06 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 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：:Neisseria meningitidis is the primary causative agent of bacterial meningitis. The genome is rich in repetitive DNA and almost 2% is occupied by a diminutive transposon called the Correia element. Here we report a bioinformatic analysis defining eight subtypes of the element with four distinct types of ends. Transcrip...

journal_title：PLoS genetics

authors： Siddique A,Buisine N,Chalmers R

更新日期：2011-01-20 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：:An important follow-up step after genetic markers are found to be associated with a disease outcome is a more detailed analysis investigating how the implicated gene or chromosomal region and an established environment risk factor interact to influence the disease risk. The standard approach to this study of gene-envi...

journal_title：PLoS genetics

authors： Yu K,Wacholder S,Wheeler W,Wang Z,Caporaso N,Landi MT,Liang F

更新日期：2012-01-01 00:00:00

abstract：:Male mammals produce sperm for most of postnatal life and therefore require a robust germ line stem cell system, with precise balance between self-renewal and differentiation. Prior work established doublesex- and mab-3-related transcription factor 1 (Dmrt1) as a conserved transcriptional regulator of male sexual diff...

journal_title：PLoS genetics

authors： Zhang T,Oatley J,Bardwell VJ,Zarkower D

更新日期：2016-09-01 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：: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：:In response to stress and injury a coordinated activation of conserved signalling modules, such as JNK and JAK/STAT, is critical to trigger regenerative tissue restoration. While these pathways rebuild homeostasis and promote faithful organ recovery, it is intriguing that they also become activated in various tumour c...

journal_title：PLoS genetics

authors： Beira JV,Torres J,Paro R

更新日期：2018-01-22 00:00:00

abstract：:Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at ...

journal_title：PLoS genetics

authors： Becherel OJ,Yeo AJ,Stellati A,Heng EY,Luff J,Suraweera AM,Woods R,Fleming J,Carrie D,McKinney K,Xu X,Deng C,Lavin MF

更新日期：2013-04-01 00:00:00

abstract：:Epigenetic reprogramming is a critical event in the generation of induced pluripotent stem cells (iPSCs). Here, we determined the DNA methylation profiles of 22 human iPSC lines derived from five different cell types (human endometrium, placental artery endothelium, amnion, fetal lung fibroblast, and menstrual blood c...

journal_title：PLoS genetics

authors： Nishino K,Toyoda M,Yamazaki-Inoue M,Fukawatase Y,Chikazawa E,Sakaguchi H,Akutsu H,Umezawa A

更新日期：2011-05-01 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...

journal_title：PLoS genetics

authors： van der Does HC,Fokkens L,Yang A,Schmidt SM,Langereis L,Lukasiewicz JM,Hughes TR,Rep M

更新日期：2016-11-17 00:00:00

abstract：:Bacteria can survive antibiotic treatment without acquiring heritable antibiotic resistance. We investigated persistence to the fluoroquinolone ciprofloxacin in Escherichia coli. Our data show that a majority of persisters to ciprofloxacin were formed upon exposure to the antibiotic, in a manner dependent on the SOS g...

journal_title：PLoS genetics

authors： Dörr T,Lewis K,Vulić M

更新日期：2009-12-01 00:00:00

abstract：:Sirtuins are NAD⁺-dependent deacetylases, lipoamidases, and ADP-ribosyltransferases that link cellular metabolism to multiple intracellular pathways that influence processes as diverse as cell survival, longevity, and cancer growth. Sirtuins influence the extent of neuronal death in stroke. However, different sirtuins...

journal_title：PLoS genetics

authors： Sangaletti R,D'Amico M,Grant J,Della-Morte D,Bianchi L

更新日期：2017-08-18 00:00:00

abstract：:Neural stem cell self-renewal, neurogenesis, and cell fate determination are processes that control the generation of specific classes of neurons at the correct place and time. The transcription factor Pax6 is essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central n...

journal_title：PLoS genetics

authors： Sansom SN,Griffiths DS,Faedo A,Kleinjan DJ,Ruan Y,Smith J,van Heyningen V,Rubenstein JL,Livesey FJ

更新日期：2009-06-01 00:00:00

abstract：:5-Aza-2'-deoxycytidine, approved by the FDA for the treatment of myelodysplastic syndrome (MDS), is incorporated into the DNA of dividing cells where it specifically inhibits DNA methylation by forming covalent complexes with the DNA methyltransferases (DNMTs). In an effort to study the correlations between DNA methyl...

journal_title：PLoS genetics

authors： Yang X,Noushmehr H,Han H,Andreu-Vieyra C,Liang G,Jones PA

更新日期：2012-01-01 00:00:00

abstract：:Although kinetochores normally play a key role in sister chromatid separation and segregation, chromosome fragments lacking kinetochores (acentrics) can in some cases separate and segregate successfully. In Drosophila neuroblasts, acentric chromosomes undergo delayed, but otherwise normal sister separation, revealing ...

journal_title：PLoS genetics

authors： Vicars H,Karg T,Warecki B,Bast I,Sullivan W

更新日期：2021-01-29 00:00:00

abstract：:Homolog pairing and crossing over during meiosis I prophase is required for accurate chromosome segregation to form euploid gametes. The repair of Spo11-induced double-strand breaks (DSB) using a homologous chromosome template is a major driver of pairing in many species, including fungi, plants, and mammals. Inapprop...

journal_title：PLoS genetics

authors： Lui DY,Cahoon CK,Burgess SM

更新日期：2013-01-01 00:00:00