keyword
MENU ▼
Read by QxMD icon Read
search

Allelic exclusion

keyword
https://www.readbyqxmd.com/read/28435090/trinucleotide-repeat-expanded-and-normal-dmpk-transcripts-contain-unusually-long-poly-a-tails-despite-differential-nuclear-residence
#1
Anke E E G Gudde, Ingeborg D G van Kessel, Laurène M André, Bé Wieringa, Derick G Wansink
In yeast and higher eukaryotes nuclear retention of transcripts may serve in control over RNA decay, nucleocytoplasmic transport and premature cytoplasmic appearance of mRNAs. Hyperadenylation of RNA is known to be associated with nuclear retention, but the cause-consequence relationship between hyperadenylation and regulation of RNA nuclear export is still unclear. We compared polyadenylation status between normal and expanded DMPK transcripts in muscle cells and tissues derived from unaffected individuals and patients with myotonic dystrophy type 1 (DM1)...
April 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28434779/a-comparative-study-of-cutibacterium-propionibacterium-acnes-clones-from-acne-patients-and-healthy-controls
#2
H B Lomholt, C F P Scholz, H Brüggemann, H Tettelin, M Kilian
BACKGROUND: Cutibacterium (Propionibacterium) acnes is assumed to play an important role in the pathogenesis of acne. OBJECTIVES: To examine if clones with distinct virulence properties are associated with acne. METHODS: Multiple C. acnes isolates from follicles and surface skin of patients with moderate to severe acne and healthy controls were characterized by multilocus sequence typing. To determine if CC18 isolates from acne patients differ from those of controls in the possession of virulence genes or lack of genes conducive to a harmonious coexistence the full genomes of dominating CC18 follicular clones from six patients and five controls were sequenced...
April 19, 2017: Anaerobe
https://www.readbyqxmd.com/read/28427253/meta-analysis-of-the-correlation-between-the-rs17401966-polymorphism-in-kinesin-family-member-1b-and-susceptibility-to-hepatitis-b-virus-related-hepatocellular-carcinoma
#3
Mingkuan Su, Jianfeng Guo, Jiancheng Huang
Background/Aims: The association between the kinesin family member 1B (KIF1B) gene polymorphism and the risk of hepatitis B virus-related hepatocellular carcinoma (HCC) has been investigated in many peer-reviewed studies. However, scholars have failed to replicate these results in validation tests. The purpose of the present study was to explore whether the KIF1B rs17401966 polymorphism was associated with susceptibility to HCC. Methods: The results of case-controlled studies on the correlation between the KIF1B rs17401966 polymorphism and HCC susceptibility were collected using Google Scholar and the EMBASE, PubMed and CNKI databases...
April 21, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28416677/structural-toggle-in-the-rnaseh-domain-of-prp8-helps-balance-splicing-fidelity-and-catalytic-efficiency
#4
Megan Mayerle, Madhura Raghavan, Sarah Ledoux, Argenta Price, Nicholas Stepankiw, Haralambos Hadjivassiliou, Erica A Moehle, Senén D Mendoza, Jeffrey A Pleiss, Christine Guthrie, John Abelson
Pre-mRNA splicing is an essential step of eukaryotic gene expression that requires both high efficiency and high fidelity. Prp8 has long been considered the "master regulator" of the spliceosome, the molecular machine that executes pre-mRNA splicing. Cross-linking and structural studies place the RNaseH domain (RH) of Prp8 near the spliceosome's catalytic core and demonstrate that prp8 alleles that map to a 17-aa extension in RH stabilize it in one of two mutually exclusive structures, the biological relevance of which are unknown...
April 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28414633/genome-wide-analysis-provides-evidence-on-the-genetic-relatedness-of-the-emergent-xylella-fastidiosa-genotype-in-italy-to-isolates-from-central-america
#5
Annalisa Giampetruzzi, Maria Saponari, Giuliana Loconsole, Donato Boscia, Vito Nicola Savino, Rodrigo Almeida, Stefania Zicca, Blanca Landa, Carlos Chacon Diaz, Pasquale Saldarelli
Xylella fastidiosa is a plant pathogenic bacterium recently introduced in Europe that is causing decline in olive trees in the South of Italy. Genetic studies have consistently shown that the bacterial genotype recovered from infected olive trees belongs to the sequence type ST53 within subspecies pauca. This genotype, ST53, has also been reported to occur in Costa Rica. The ancestry of ST53 was recently clarified, showing it contains alleles which are monophyletic with those of subsp. pauca in South America...
April 17, 2017: Phytopathology
https://www.readbyqxmd.com/read/28412872/chinese-xibe-population-genetic-composition-according-to-linkage-groups-of-x-chromosomal-strs-population-genetic-variability-and-interpopulation-comparisons
#6
Hao-Tian Meng, Chun-Mei Shen, Yu-Dang Zhang, Qian Dong, Yu-Xin Guo, Guang Yang, Jiang-Wei Yan, Yao-Shun Liu, Ting Mei, Jian-Feng Shi, Bo-Feng Zhu
BACKGROUND: The Xibe population is one of China's officially recognised populations and is now distributed separately from west to east in the northern part of China. X-chromosomal short tandem repeats have a special inheritance pattern, and could be used as complements in forensic application especially for complex or deficiency cases. SUBJECTS AND METHODS: We obtained the allelic and haplotypic frequencies of 19 X-STR loci in the Xibe population from Xinjiang Uygur Autonomous Region, China, and studied the genetic differentiations between the Xibe and other populations...
April 16, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28411125/hypersociability-in-the-angelman-syndrome-mouse-model
#7
David C Stoppel, Matthew P Anderson
Deletions and reciprocal triplications of the human chromosomal 15q11-13 region cause two distinct neurodevelopmental disorders. Maternally-derived deletions or inactivating mutations of UBE3A, a 15q11-13 gene expressed exclusively from the maternal allele in neurons, cause Angelman syndrome, characterized by intellectual disability, motor deficits, seizures, and a characteristic increased social smiling, laughing, and eye contact. Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone...
April 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28405635/using-mendelian-randomization-to-determine-causal-effects-of-maternal-pregnancy-intrauterine-exposures-on-offspring-outcomes-sources-of-bias-and-methods-for-assessing-them
#8
Deborah Lawlor, Rebecca Richmond, Nicole Warrington, George McMahon, George Davey Smith, Jack Bowden, David M Evans
Mendelian randomization (MR), the use of genetic variants as instrumental variables (IVs) to test causal effects, is increasingly used in aetiological epidemiology. Few of the methodological developments in MR have considered the specific situation of using genetic IVs to test the causal effect of exposures in pregnant women on postnatal offspring outcomes. In this paper, we describe specific ways in which the IV assumptions might be violated when MR is used to test such intrauterine effects. We highlight the importance of considering the extent to which there is overlap between genetic variants in offspring that influence their outcome with genetic variants used as IVs in their mothers...
February 14, 2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28396517/-in-vitrocharacterization-of-six-stub1-variants-in-spinocerebellar-ataxia-16-reveals-altered-structural-properties-for-the-encoded-chip-proteins
#9
Yasaman Pakdaman, Monica Sanchez-Guixé, Rune Kleppe, Sigrid Erdal, Helene J Bustad, Lise Bjørkhaug, Kristoffer Haugarvoll, Charalampos Tzoulis, Ketil Heimdal, Per M Knappskog, Stefan Johansson, Ingvild Aukrust
Autosomal recessive spinocerebellar ataxia-16 is caused by bi-allelic mutations in the STUB1 gene encoding the ubiquitin E3 ligase and dimeric co-chaperone CHIP (C-terminus of Hsc70-Interacting Protein). It has been proposed that the disease mechanism is related to CHIP's impaired E3 ubiquitin ligase properties and/or interaction with its chaperones. However, there is limited knowledge on how these mutations affect the stability, folding and protein structure of CHIP itself. To gain further insight, s ix previously reported pathogenic STUB1 variants (E28K, N65S, K145Q, M211I, S236T and T246M) were expressed as recombinant proteins and studied using limited proteolysis, size-exclusion chromatography and circular dichroism...
April 10, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28388533/brca1-haploinsufficiency-cell-autonomously-activates-rankl-expression-and-generates-denosumab-responsive-breast-cancer-initiating-cells
#10
Elisabet Cuyàs, Bruna Corominas-Faja, María Muñoz-San Martín, Begoña Martin-Castillo, Ruth Lupu, Joan Brunet, Joaquim Bosch-Barrera, Javier A Menendez
Denosumab, a monoclonal antibody to the receptor activator of nuclear factor-κB ligand (RANKL), might be a novel preventative therapy for BRCA1-mutation carriers at high risk of developing breast cancer. Beyond its well-recognized bone-targeted activity impeding osteoclastogenesis, denosumab has been proposed to interfere with the cross-talk between RANKL-producing sensor cells and cancer-initiating RANK+ responder cells that reside within premalignant tissues of BRCA1-mutation carriers. We herein tested the alternative but not mutually exclusive hypothesis that BRCA1 deficiency might cell-autonomously activate RANKL expression to generate cellular states with cancer stem cell (CSC)-like properties...
March 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28387876/development-of-a-polymorphic-short-tandem-repeat-locus-multiplex-system-for-efficient-human-identification
#11
R G Rodovalho, E L Rodrigues, G S Santos, L M Cavalcanti, P R Lima, A G Rodovalho, R G Vital, M A D Gigonzac, A D da Cruz
This study aimed to develop a short tandem repeat (STR) multiplex system, made up of 22 highly informative STR loci, for application in forensic genetics. The system comprised 21 polymorphic autosomal loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D2S441, D17S1301, D19S433, D18S853, D20S482, and D14S1434) and the amelogenin gene locus. Strategies were developed to overcome the challenges involved in creating a multiplex system. Based on the literature and available databases, the STR loci were selected with the aim to obtain discriminatory markers, and followed specific criteria for this purpose...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28369043/generation-of-mature-t-cells-from-human-hematopoietic-stem-and-progenitor-cells-in-artificial-thymic-organoids
#12
Christopher S Seet, Chongbin He, Michael T Bethune, Suwen Li, Brent Chick, Eric H Gschweng, Yuhua Zhu, Kenneth Kim, Donald B Kohn, David Baltimore, Gay M Crooks, Amélie Montel-Hagen
Studies of human T cell development require robust model systems that recapitulate the full span of thymopoiesis, from hematopoietic stem and progenitor cells (HSPCs) through to mature T cells. Existing in vitro models induce T cell commitment from human HSPCs; however, differentiation into mature CD3(+)TCR-αβ(+) single-positive CD8(+) or CD4(+) cells is limited. We describe here a serum-free, artificial thymic organoid (ATO) system that supports efficient and reproducible in vitro differentiation and positive selection of conventional human T cells from all sources of HSPCs...
April 3, 2017: Nature Methods
https://www.readbyqxmd.com/read/28348576/temporal-genetic-dynamics-of-an-experimental-biparental-field-population-of-phytophthora-capsici
#13
Maryn O Carlson, Elodie Gazave, Michael A Gore, Christine D Smart
Defining the contributions of dispersal, reproductive mode, and mating system to the population structure of a pathogenic organism is essential to estimating its evolutionary potential. After introduction of the devastating plant pathogen, Phytophthora capsici, into a grower's field, a lack of aerial spore dispersal restricts migration. Once established, coexistence of both mating types results in formation of overwintering recombinant oospores, engendering persistent pathogen populations. To mimic these conditions, in 2008, we inoculated a field with two P...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#14
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28345808/molecular-genetic-analysis-of-the-melanoma-regulatory-locus-in-xiphophorus-interspecies-hybrids
#15
Yuan Lu, Mikki Boswell, William Boswell, Susanne Kneitz, Michael Hausmann, Barbara Klotz, Janine Regneri, Markita Savage, Angel Amores, John Postlethwait, Wesley Warren, Manfred Schartl, Ronald Walter
Development of spontaneous melanoma in Xiphophorus interspecies backcross hybrid progeny, (X. hellerii × [X. maculatus Jp 163 A × X. hellerii]) is due to Mendelian segregation of a oncogene (xmrk) and a molecularly uncharacterized locus, called R(Diff), on LG5. R(Diff) is thought to suppresses the activity of xmrk in healthy X. maculatus Jp 163 A parental species that rarely develop melanoma. To better understand the molecular genetics of R(Diff), we utilized RNA-Seq to study allele-specific gene expression of spontaneous melanoma tumors and corresponding normal skin samples derived from 15 first generation backcross (BC1 ) hybrids and 13 fifth generation (BC5 ) hybrids...
March 27, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28342798/allele-frequencies-and-other-forensic-parameters-of-the-hid-ion-ampliseq%C3%A2-identity-panel-markers-in-basques-using-the-ion-torrent-pgm%C3%A2-platform
#16
O García, A Soto, I Yurrebaso
The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74×10(-36) for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field...
March 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28342005/genetic-polymorphisms-for-19-autosomal-str-loci-of-chongqing-han-ethnicity-and-phylogenetic-structure-exploration-among-28-chinese-populations
#17
Xing Zou, YongGuo Li, Ping Li, QianYun Nie, Ting Wang, Yue Hu, Ying Zhu, JianBo Li, RenKuan Tang
The allele frequencies and forensic statistical parameters of 19 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, THOl, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA, D6S1043, Penta D, Penta E, and D12S391) included in the Goldeneye™ DNA ID system 20A kit were obtained in 671 Chinese Han individuals residing in Chongqing, Southwest China. All 19 STR loci were identified in agreement with the Hardy-Weinberg equilibrium. A total of 238 alleles were observed with corresponding allele frequencies that varied from 0...
March 24, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28338502/sellar-atypical-teratoid-rhabdoid-tumor-at-rt-a-clinicopathologically-and-genetically-distinct-variant-of-at-rt
#18
Satoshi Nakata, Sumihito Nobusawa, Takanori Hirose, Shinji Ito, Naoko Inoshita, Shunsuke Ichi, Vishwa J Amatya, Yukio Takeshima, Kazuhiko Sugiyama, Yukihiko Sonoda, Hironori Haga, Junko Hirato, Yoichi Nakazato, Hideaki Yokoo
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare aggressive tumors of the central nervous system that predominantly affect infants. Although adult AT/RT are rare, accumulated cases have revealed adult-specific AT/RT in the sellar region. Twelve previously reported cases of sellar AT/RT exclusively occurred in adult females, suggesting biological differences from conventional infant AT/RT. We herein investigated a series of 6 sellar AT/RT for histopathologic features, the molecular status of the INI1/SMARCB1 gene, and clinical courses...
March 23, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28334821/in-vivo-cleavage-specificity-of-trypanosoma-brucei-editosome-endonucleases
#19
Jason Carnes, Suzanne McDermott, Atashi Anupama, Brian G Oliver, D Noah Sather, Kenneth Stuart
RNA editing is an essential post-transcriptional process that creates functional mitochondrial mRNAs in Kinetoplastids. Multiprotein editosomes catalyze pre-mRNA cleavage, uridine (U) insertion or deletion, and ligation as specified by guide RNAs. Three functionally and compositionally distinct editosomes differ by the mutually exclusive presence of the KREN1, KREN2 or KREN3 endonuclease and their associated partner proteins. Because endonuclease cleavage is a likely point of regulation for RNA editing, we elucidated endonuclease specificity in vivo...
February 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28329770/antigen-presentation-profiling-reveals-recognition-of-lymphoma-immunoglobulin-neoantigens
#20
Michael S Khodadoust, Niclas Olsson, Lisa E Wagar, Ole A W Haabeth, Binbin Chen, Kavya Swaminathan, Keith Rawson, Chih Long Liu, David Steiner, Peder Lund, Samhita Rao, Lichao Zhang, Caleb Marceau, Henning Stehr, Aaron M Newman, Debra K Czerwinski, Victoria E H Carlton, Martin Moorhead, Malek Faham, Holbrook E Kohrt, Jan Carette, Michael R Green, Mark M Davis, Ronald Levy, Joshua E Elias, Ash A Alizadeh
Cancer somatic mutations can generate neoantigens that distinguish malignant from normal cells. However, the personalized identification and validation of neoantigens remains a major challenge. Here we discover neoantigens in human mantle-cell lymphomas by using an integrated genomic and proteomic strategy that interrogates tumour antigen peptides presented by major histocompatibility complex (MHC) class I and class II molecules. We applied this approach to systematically characterize MHC ligands from 17 patients...
March 30, 2017: Nature
keyword
keyword
88477
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"