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Allelic exclusion

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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28099358/the-gender-specific-association-of-rs334558-in-gsk3%C3%AE-with-major-depressive-disorder
#2
Sha Liu, Le Wang, Ning Sun, Chunxia Yang, Zhifen Liu, Xinrong Li, Xiaohua Cao, Yong Xu, Kerang Zhang
Major depressive disorder (MDD) is one of the most prevalent psychiatric illnesses with a heritability ranging from 40% to 50%. The single nucleotide polymorphism (SNP) rs334558 on the glycogen synthase kinase-3β (GSK3β) gene has been identified as a genetic risk loci associated with schizophrenia and bipolar disorder. However, results from replication studies examining the association between rs334558 and MDD remain inconsistent.In the present study, first, we conducted a meta-analysis of the association between rs334558 and MDD by combining 5 available case-control samples totaling 2311 cases and 2535 controls...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28088785/the-igh-locus-3-cis-regulatory-super-enhancer-co-opts-aid-for-allelic-transvection
#3
Sandrine Le Noir, Brice Laffleur, Claire Carrion, Armand Garot, Sandrine Lecardeur, Eric Pinaud, Yves Denizot, Jane Skok, Michel Cogné
Immunoglobulin heavy chain (IgH) alleles have ambivalent relationships: they feature both allelic exclusion, ensuring monoallelic expression of a single immunoglobulin (Ig) allele, and frequent inter-allelic class-switch recombination (CSR) reassembling genes from both alleles. The IgH locus 3' regulatory region (3'RR) includes several transcriptional cis-enhancers promoting activation-induced cytidine deaminase (AID)-dependent somatic hypermutation (SHM) and CSR, and altogether behaves as a strong super-enhancer...
January 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28069897/impact-of-estrogen-receptor-%C3%AE-gene-and-oxytocin-receptor-gene-polymorphisms-on-female-sexuality
#4
Anastasia K Armeni, Konstantinos Assimakopoulos, Dimitra J Marioli, Vasiliki Koika, Eftychia Michailidou, Niki Mourtzi, Gregoris Iconomou, Neoklis A Georgopoulos
Over the past decades, research attention has increasingly been paid to the neurobiological component of sexual behaviour. The aim of the present study was to investigate the correlation of estrogen receptor α (ERα) gene polymorphism (rs2234693-PvuII) (T→C substitution) and oxytocin receptor gene polymorphism (rs53576) (G→A substitution) with sexuality parameters of young, healthy women. One hundred thirty-three Greek heterosexual women, students in higher education institutions, 20-25 years of age, sexually active, with normal menstrual cycles (28-35 days), were recruited in the study...
January 9, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28069890/apobec1-complementation-factor-a1cf-is-not-required-for-c-to-u-rna-editing-in-vivo
#5
Elizabeth M Snyder, Christopher McCarty, Adrienne Mehalow, Karen Svenson, Stephen Murray, Ron Korstanje, Robert E Braun
Editing of the human and murine ApoB mRNA by APOBEC1, the catalytic enzyme of the protein complex that catalyzes C-to-U RNA editing, creates an internal stop codon within the APOB coding sequence, generating two protein isoforms. It has been long held that APOBEC1-mediated editing activity is dependent on the RNA binding protein A1CF. The importance of A1CF in adult tissues has been unclear as a previously reported null allele displays embryonic lethality. This work aimed to address the function of A1CF in adult mouse tissues using a conditional A1cf allele...
January 9, 2017: RNA
https://www.readbyqxmd.com/read/28058572/population-genetic-analyses-and-evaluation-of-22-autosomal-strs-in-indian-populations
#6
Mugdha Singh, Madhusudan R Nandineni
The allele frequencies and forensically relevant parameters for the 22 autosomal short tandem repeats (STRs) present in PowerPlex® Fusion (Promega, Madison, WI) were determined for 357 unrelated individuals from 11 states across India. The combined power of discrimination and probability of exclusion were 0.99999999999999999999999999875 and 0.999999997200846, respectively. The panel was found to be informative for Indian populations and generated a total of 275 alleles. Further, analyses with these loci did not show any noticeable clustering among the Indian populations...
January 6, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28057861/cellular-context-dependent-consequences-of-apc-mutations-on-gene-regulation-and-cellular-behavior
#7
Kyoichi Hashimoto, Yosuke Yamada, Katsunori Semi, Masaki Yagi, Akito Tanaka, Fumiaki Itakura, Hitomi Aoki, Takahiro Kunisada, Knut Woltjen, Hironori Haga, Yoshiharu Sakai, Takuya Yamamoto, Yasuhiro Yamada
The spectrum of genetic mutations differs among cancers in different organs, implying a cellular context-dependent effect for genetic aberrations. However, the extent to which the cellular context affects the consequences of oncogenic mutations remains to be fully elucidated. We reprogrammed colon tumor cells in an Apc(Min/+) (adenomatous polyposis coli) mouse model, in which the loss of the Apc gene plays a critical role in tumor development and subsequently, established reprogrammed tumor cells (RTCs) that exhibit pluripotent stem cell (PSC)-like signatures of gene expression...
January 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28049866/genetic-diversity-of-the-yonaguni-horse-based-on-polymorphisms-in-microsatellites-and-mitochondrial-dna
#8
Natsuko Senju, Teruaki Tozaki, Hironaga Kakoi, Akihisa Shinjo, Ryota Matsuyama, Julio Almunia, Masaki Takasu
Thirty-two microsatellites and a mitochondrial DNA haplotypes of endangered Yonaguni horses were analyzed to establish a pedigree registration system and to understand their genetic diversity for planning effective conservation. Blood samples were collected from 78 of the 130 horses in existence, and DNA was extracted and genotyped. There were two major findings. One is that it is possible to use microsatellites for Yonaguni horse pedigree registration in the future because the power of exclusion of parentage testing is reliable at 0...
December 31, 2016: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28045068/elucidating-the-genetic-basis-of-an-oligogenic-birth-defect-using-whole-genome-sequence-data-in-a-non-model-organism-bubalus-bubalis
#9
Lynsey K Whitacre, Jesse L Hoff, Robert D Schnabel, Sara Albarella, Francesca Ciotola, Vincenzo Peretti, Francesco Strozzi, Chiara Ferrandi, Luigi Ramunno, Tad S Sonstegard, John L Williams, Jeremy F Taylor, Jared E Decker
Recent strong selection for dairy traits in water buffalo has been associated with higher levels of inbreeding, leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by absence of a variable distal portion of the hindlimbs. Limited genomic resources available for water buffalo required an original approach to identify genetic variants associated with the disease. The genomes of 4 bilateral and 7 unilateral affected cases and 14 controls were sequenced...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28041846/change-in-ighv-mutational-status-of-cll-suggests-origin-from-multiple-clones
#10
Afaf Osman, Christopher D Gocke, Douglas E Gladstone
BACKGROUND: Fluorescence in situ hybridization and immunoglobulin (Ig) heavy-chain variable-region (IgHV) mutational status are used to predict outcome in chronic lymphocytic leukemia (CLL). Although DNA aberrations change over time, IgHV sequences and mutational status are considered stable. PATIENTS AND METHODS: In a retrospective review, 409 CLL patients, between 2008 and 2015, had IgHV analysis: 56 patients had multiple analyses performed. Seven patients' IgHV results changed: 2 from unmutated to mutated and 5 from mutated to unmutated IgHV sequence...
November 21, 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28039138/an-effective-counterselection-system-for-listeria-monocytogenes-and-its-use-to-characterize-10403s-strain-monocin-genomic-region
#11
Tal Argov, Lev Rabinovich, Nadejda Sigal, Anat A Herskovits
Construction of Listeria monocytogenes mutants by allelic exchange has been laborious and time consuming due to lack of proficient selection markers for the final recombination event. That is, a marker conveying substance sensitivity to the bacteria bearing it, enabling the exclusion of merodiploids and selection for plasmid loss. In order to address this issue, we engineered a counterselection marker based on a mutated phenylalanyl-tRNA synthetase gene (pheS*). This mutation renders the phenylalanine-binding site of the enzyme more promiscuous and allows the binding of the toxic p-chloro-phenylalanine analog (p-Cl-phe) as a substrate...
December 30, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28031539/recurrent-genetic-defects-on-chromosome-5q-in-myeloid-neoplasms
#12
Naoko Hosono, Hideki Makishima, Reda Mahfouz, Bartlomiej Przychodzen, Kenichi Yoshida, Andres Jerez, Thomas LaFramboise, Chantana Polprasert, Michael J Clemente, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Masashi Sanada, Edward Cui, Amit K Verma, Michael A McDevitt, Alan F List, Yogen Saunthararajah, Mikkael A Sekeres, Jacqueline Boultwood, Seishi Ogawa, Jaroslaw P Maciejewski
BACKGROUND: Deletion of chromosome 5q (del(5q)) is the most common karyotypic abnormality in myeloid neoplasms. MATERIALS AND METHODS: To define the pathogenic molecular features associated with del(5q), next-generation sequencing was applied to 133 patients with myeloid neoplasms (MDS; N = 69, MDS/MPN; N = 5, sAML; N = 29, pAML; N = 30) with del(5q) as a sole abnormally or a part of complex karyotype and results were compared to molecular features of patients diploid for chr5...
December 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/28018587/case-controlled-study-on-indirect-hyperbilirubinemia-in-exclusively-breast-fed-neonates-and-mutations-of-the-bilirubin-uridine-diphosphate-glucuronyl-transferase-gene-1a1
#13
Amal E Mohammed, Eman G Behiry, Akram E El-Sadek, Waleed E Abdulghany, Dalia M Mahmoud, Abdelfattah A Elkholy
OBJECTIVE: This study aims to investigate the association of neonatal indirect hyperbilirubinemia in exclusively breast-fed infants with UGT1A1 (Uridine Diphosphate-Glucuronyl transferase 1A1) polymorphism. METHODS: 50 neonates were classified into 2 groups: 1) 30 full term neonates with indirect hyperbilirubinemia (gestational age (GA) 39.5 ± 1.2 weeks); 2) 20 apparently healthy full-term neonates. Group 1 was further subdivided based on percentage of body weight lost: (A) less than 10%; (B) 10% or more...
January 2017: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/27984087/genomic-and-genetic-studies-of-systemic-sclerosis-a-systematic-review
#14
REVIEW
Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Systemic Sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be involved. This review aimed to assess HLA alleles/non-HLA polymorphisms, microsatellites and chromosomal abnormalities that have thus far been associated with SSc. PubMed, Embase and Scopus databases were searched up to July 29, 2015 using a combination of search-terms. Articles retrieved were evaluated based on set exclusion and inclusion criteria...
October 28, 2016: Human Immunology
https://www.readbyqxmd.com/read/27966545/the-novel-homozygous-kcnj10-c-986t-c-p-leu329pro-variant-is-pathogenic-for-the-sesame-east-homologue-in-malinois-dogs
#15
Mario Van Poucke, Kimberley Stee, Sofie F M Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in two families belonging to the Malinois dog breed, based on clinical, neurological, electrodiagnostic and histopathological examination. Genetic analysis detected a novel pathogenic KCNJ10 c.986T>C (p.(Leu329Pro)) variant that is inherited in an autosomal recessive way...
December 14, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27957605/population-genetic-data-for-ten-ministr-loci-in-the-sri-lankan-population
#16
N D S Goonawardhana, G S K W Jayasekara, V Elanahai, P V Udagama, N D Fernandopulle
Allele frequencies and forensically important parameters of ten autosomal miniSTR loci, D1S1677, D2S1776, D10S1248, D11S4463, D12SATA, D14S1434, D17S974, D18S853, D20S482, and D22S1045, were obtained for 278 unrelated adults from the Sri Lankan population. The combined power of discrimination and probability of exclusion was found to be 0.999999999621539 and 0.9979620, respectively. No significant deviations from Hardy-Weinberg equilibrium were observed except for D20S482 which conformed to HW expectations only after the application of a Bonferroni correction...
December 12, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27933412/genetic-diversity-study-on-12-x-str-loci-of-investigator%C3%A2-argus-x-str-kit-in-bangladeshi-population
#17
Abu Sufian, Md Ismail Hosen, Kaniz Fatema, Tania Hossain, Md Mahamud Hasan, Ashish Kumar Mazumder, Sharif Akhteruzzaman
The X-chromosome short tandem repeat (STR) loci are of particular interest for solving complex kinship and paternity cases. Here, we report the genetic data from 209 unrelated Bangladeshi individuals (102 males and 107 females) that were genotyped using the 12 X-chromosomal STR markers included in the Investigator® Argus X-12 kit (Qiagen). The 12 X-STR markers are located in four linkage groups (linkage group I: DXS10135, DXS10148, and DXS8378; linkage group II: DXS7132, DXS10079, and DXS10074; linkage group III: DXS10103, HPRTB, and DXS10101; and linkage group IV: DXS10146, DXS10134, and DXS7423)...
December 8, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27932455/single-cell-profiling-reveals-that-erna-accumulation-at-enhancer-promoter-loops-is-not-required-to-sustain-transcription
#18
Samir Rahman, Cornelia E Zorca, Tatiana Traboulsi, Emmanuel Noutahi, Matthew R Krause, Sylvie Mader, Daniel Zenklusen
Enhancers are intergenic DNA elements that regulate the transcription of target genes in response to signaling pathways by interacting with promoters over large genomic distances. Recent studies have revealed that enhancers are bi-directionally transcribed into enhancer RNAs (eRNAs). Using single-molecule fluorescence in situ hybridization (smFISH), we investigated the eRNA-mediated regulation of transcription during estrogen induction in MCF-7 cells. We demonstrate that eRNAs are localized exclusively in the nucleus and are induced with similar kinetics as target mRNAs...
December 8, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#19
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27923066/somatic-genomics-and-clinical-features-of-lung-adenocarcinoma-a-retrospective-study
#20
Jianxin Shi, Xing Hua, Bin Zhu, Sarangan Ravichandran, Mingyi Wang, Cu Nguyen, Seth A Brodie, Alessandro Palleschi, Marco Alloisio, Gianluca Pariscenti, Kristine Jones, Weiyin Zhou, Aaron J Bouk, Joseph Boland, Belynda Hicks, Adam Risch, Hunter Bennett, Brian T Luke, Lei Song, Jubao Duan, Pengyuan Liu, Takashi Kohno, Qingrong Chen, Daoud Meerzaman, Crystal Marconett, Ite Laird-Offringa, Ian Mills, Neil E Caporaso, Mitchell H Gail, Angela C Pesatori, Dario Consonni, Pier Alberto Bertazzi, Stephen J Chanock, Maria Teresa Landi
BACKGROUND: Lung adenocarcinoma (LUAD) is the most common histologic subtype of lung cancer and has a high risk of distant metastasis at every disease stage. We aimed to characterize the genomic landscape of LUAD and identify mutation signatures associated with tumor progression. METHODS AND FINDINGS: We performed an integrative genomic analysis, incorporating whole exome sequencing (WES), determination of DNA copy number and DNA methylation, and transcriptome sequencing for 101 LUAD samples from the Environment And Genetics in Lung cancer Etiology (EAGLE) study...
December 2016: PLoS Medicine
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