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https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#1
V Thumbigere-Math, A Alqadi, N I Chalmers, M B Chavez, E Y Chu, M T Collins, C R Ferreira, K FitzGerald, R I Gafni, W A Gahl, K S Hsu, M S Ramnitz, M J Somerman, S G Ziegler, B L Foster
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi) and pyrophosphate (PPi). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#2
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29244562/learning-to-cooperate-the-evolution-of-social-rewards-in-repeated-interactions
#3
Slimane Dridi, Erol Akçay
Understanding the behavioral and psychological mechanisms underlying social behaviors is one of the major goals of social evolutionary theory. In particular, a persistent question about animal cooperation is to what extent it is supported by other-regarding preferences-the motivation to increase the welfare of others. In many situations, animals adjust their behaviors through learning by responding to the rewards they experience as a consequence of their actions. Therefore, we may ask whether learning in social situations can be driven by evolved other-regarding rewards...
January 2018: American Naturalist
https://www.readbyqxmd.com/read/29244212/detection-of-enteric-and-non-enteric-adenoviruses-in-gastroenteritis-patients-bangladesh-2012-2015
#4
Mokibul Hassan Afrad, Tasnuva Avzun, Jahurul Haque, Warda Haque, Mohammad Enayet Hossain, Afm Rajibur Rahman, Shahnawaz Ahmed, Abu Syed Golam Faruque, Mohammed Ziaur Rahman, Mustafizur Rahman
BACKGROUND: Human adenoviruses (HAdVs) are common cause of nonbacterial acute gastroenteritis worldwide. Limited data exist on HAdVs molecular epidemiology associated with acute gastroenteritis in Bangladesh. OBJECTIVE: We describe the genetic diversity and epidemiology of HAdVs among hospitalized diarrhea patients, including HAdV genotypes, clinical symptoms and co-infecting enteric pathogens. STUDY DESIGN: Stool samples were collected from ongoing diarrhea surveillance during 2012-2015...
December 15, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/29244209/generation-of-a-kshv-k13-deletion-mutant-for-vflip-function-study
#5
Fei Wang, Yuanyuan Guo, Wan Li, Chun Lu, Qin Yan
Kaposi's sarcoma-associated herpesvirus (KSHV)-encoded viral Fas-associated death domain-like IL-1-converting enzyme inhibitory protein (vFLIP) is one of the latently expressed genes and plays a key role in cell survival and maintenance of latent infection by activating the NF-κB pathway. To obtain a genetic system for studying KSHV vFLIP mutation in the context of the viral genome, we generated recombinant viruses lacking the coding sequence (CDS) of vFLIP gene (K13/ORF71) by bacterial artificial chromosome (BAC) technology and the Escherichia coli Red recombination system...
December 15, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/29244183/dna-damage-and-epigenetic-alteration-in-soybean-farmers-exposed-to-complex-mixture-of-pesticides
#6
Danieli Benedetti, Barbara Lopes Alderete, Claudia Telles de Souza, Johnny Ferraz Dias, Liana Niekraszewicz, Mónica Cappetta, Wilner Martínez-López, Juliana Da Silva
Exposure to pesticides can trigger genotoxic and mutagenic processes through different pathways. However, epidemiological studies are scarce, and further work is needed to find biomarkers sensitive to the health of exposed populations. Considering that there are few evaluations of soybean farmers, the aim of this study was to assess the effects of human exposure to complex mixtures of pesticides. The alkaline comet assay modified with restriction enzyme (hOGG1: human 8-oxoguanine DNA glycosylase) was used to detect oxidised guanine, and compared with the buccal micronucleus cytome assay, global methylation, haematological parameters, biochemical analyses (serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, gamma-glutamyl-transferase and butyrylcholinesterase), and particle-induced X-ray emission (PIXE) for the analysis of inorganic elements...
December 13, 2017: Mutagenesis
https://www.readbyqxmd.com/read/29244110/proteomic-profiling-of-human-uterine-fibroids-reveals-upregulation-of-the-extracellular-matrix-protein-periostin
#7
M Fairuz B Jamaluddin, Yi-An Ko, Manish Kumar, Yazmin Brown, Preety Bajwa, Prathima B Nagendra, David Skerrett-Byrne, Hubert Hondermarck, Mark A Baker, Matt D Dun, Rodney J Scott, Pravin Nahar, Pradeep S Tanwar
The central characteristics of uterine fibroid is excessive deposition of extracellular matrix (ECM), which contributes to fibroid growth and bulk-type symptoms. Despite this, very little is known about ECM protein expression patterns in fibroids and whether these are influenced by the most common genetic anomalies, which relate to MED12. We performed extensive genetic and proteomic analyses of clinically annotated fibroids and adjacent normal myometrium to identify the composition and expression patterns of ECM proteins in MED12 mutation-positive and mutation-negative uterine fibroids...
December 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/29243868/genetic-diversity-of-small-populations-not-always-doom-and-gloom
#8
Dylan J Fraser
Is a key theory of evolutionary and conservation biology-that loss of genetic diversity can be predicted from population size-on shaky ground? In the face of increasing human-induced species depletion and habitat fragmentation, this question and the study of genetic diversity in small populations are paramount to understanding the limits of species' responses to environmental change and to providing remedies to endangered species conservation. Few empirical studies have investigated to what degree some small populations might be buffered against losses of genetic diversity...
December 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29243349/autosomal-recessive-primary-microcephaly-due-to-aspm-mutations-an-update
#9
Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bertoli, Tiffany Busa, Berten Ceulemans, Julie Desir, Martine Doco-Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Lubala, Michèle Mathieu-Dramard, Hélène Maurey, Julia Metreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Elise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin Crepon, Corinne Alberti, Monique Elmaleh-Bergès, Brigitte Benzacken, Bernd Wollnick, C Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressens, Alain Verloes, Sandrine Passemard
Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The Abnormal SPindle-like Microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis...
December 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/29243279/the-mito-mkate2-mouse-a-far-red-fluorescent-reporter-mouse-line-for-tracking-mitochondrial-dynamics-in-vivo
#10
Anthony P Barrasso, Xuefei Tong, Ross A Poché
Mitochondria are incredibly dynamic organelles that undergo continuous fission and fusion events to control morphology, which profoundly impacts cell physiology including cell cycle progression (Mitra, 2013; Mitra et al., 2009). This is highlighted by the fact that most major human neurodegenerative diseases are due to specific disruptions in mitochondrial fission or fusion machinery and null alleles of these genes result in embryonic lethality (Chan, 2006; Chen et al., 2017; Flippo and Strack, 2017). To gain a better understanding of the pathophysiology of such disorders, tools for the in vivo assessment of mitochondrial dynamics are required...
December 15, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29242946/clinical-viral-and-genetic-characteristics-of-drug-reaction-with-eosinophilia-and-systemic-symptoms-dress-in-shanghai-china
#11
Xiaojin Wu, Fanping Yang, Shengan Chen, Hao Xiong, Qinyuan Zhu, Xudong Gao, Qinghe Xing, Xiaoqun Luo
DRESS is one of the most severe drug reactions. The aim of this retrospective study was to summarize the clinical presentation, genetic predisposition and prognostic factors of DRESS. A total of 52 patients with DRESS, who were inpatients at a medical referral centre in Shanghai, China, from January 2011 to December 2016, were analysed retrospectively. All the patients had skin eruption, 83% had liver involvement, and ≤10% had other organ involvement. Average cost of hospitalization was $5,511±3,050. The 3 most common causative agents were allopurinol (18/52; 35%), salazosulphapyridine (11/52; 21%) and carbamazepine (5/52; 10%)...
December 15, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29242837/the-human-gut-microbial-metabolome-modulates-fungal-growth-via-the-tor-signaling-pathway
#12
Carlos García, Faiza Tebbji, Michelle Daigneault, Ning-Ning Liu, Julia R Köhler, Emma Allen-Vercoe, Adnane Sellam
Candida albicans is well known as a major human fungal pathogen, but it is also a permanent resident of healthy gastrointestinal tracts. Recent studies have shown that the human gut microbial metabolome represents an interesting source of bioactive molecules with a significant degree of chemical diversity. Some of these bioactive molecules may have useful antivirulence activities. For instance, intestinal bacterial species belonging to the Lachnospiraceae family were found to secrete molecules that attenuate Salmonella pathogenicity and repress the expression of virulence genes...
November 2017: MSphere
https://www.readbyqxmd.com/read/29242678/keap1-and-done-targeting-the-nrf2-pathway-with-sulforaphane
#13
Albena T Dinkova-Kostova, Jed W Fahey, Rumen V Kostov, Thomas W Kensler
Background: Since the re-discovery of sulforaphane in 1992 and the recognition of the bioactivity of this phytochemical, many studies have examined its mode of action in cells, animals and humans. Broccoli, especially as young sprouts, is a rich source of sulforaphane and broccoli-based preparations are now used in clinical studies probing efficacy in health preservation and disease mitigation. Many putative cellular targets are affected by sulforaphane although only one, KEAP1-NRF2 signaling, can be considered a validated target at this time...
November 2017: Trends in Food Science & Technology
https://www.readbyqxmd.com/read/29242557/the-metabolic-syndrome-associated-small-g-protein-arl15-plays-a-role-in-adipocyte-differentiation-and-adiponectin-secretion
#14
Nuno Rocha, Felicity Payne, Isabel Huang-Doran, Alison Sleigh, Katherine Fawcett, Claire Adams, Anna Stears, Vladimir Saudek, Stephen O'Rahilly, Inês Barroso, Robert K Semple
Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis. The ARL15 gene encodes a small GTP-binding protein whose function is currently unknown. In this study adipocyte-autonomous roles for ARL15 were investigated using conditional knockdown of Arl15 in murine 3T3-L1 (pre)adipocytes. Arl15 knockdown in differentiated adipocytes impaired adiponectin secretion but not adipsin secretion or insulin action, while in preadipocytes it impaired adipogenesis...
December 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29242210/reversible-immortalisation-enables-genetic-correction-of-human-muscle-progenitors-and-engineering-of-next-generation-human-artificial-chromosomes-for-duchenne-muscular-dystrophy
#15
Sara Benedetti, Narumi Uno, Hidetoshi Hoshiya, Martina Ragazzi, Giulia Ferrari, Yasuhiro Kazuki, Louise Anne Moyle, Rossana Tonlorenzi, Angelo Lombardo, Soraya Chaouch, Vincent Mouly, Marc Moore, Linda Popplewell, Kanako Kazuki, Motonobu Katoh, Luigi Naldini, George Dickson, Graziella Messina, Mitsuo Oshimura, Giulio Cossu, Francesco Saverio Tedesco
Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combination of large-capacity vectors, such as human artificial chromosomes (HACs), with stem/progenitor cells may overcome this limitation. We previously reported amelioration of the dystrophic phenotype in mice transplanted with murine muscle progenitors containing a HAC with the entire dystrophin locus (DYS-HAC)...
December 14, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29242188/saturation-mutagenesis-reveals-manifold-determinants-of-exon-definition
#16
Shengdong Ke, Vincent Anquetil, Jorge Rojas Zamalloa, Alisha Maity, Anthony Yang, Mauricio A Arias, Sergey Kalachikov, James J Russo, Jingyue Ju, Lawrence A Chasin
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene. All possible single and tandem dinucleotide substitutions were surveyed. Using high-throughput genetics, 5560 minigene molecules were assayed for splicing in human HEK293 cells. Up to 70% of mutations produced substantial (greater than twofold) phenotypes of either increased or decreased splicing. Of all predicted secondary structural elements, only a single 15-nt stem-loop showed a strong correlation with splicing, acting negatively...
December 14, 2017: Genome Research
https://www.readbyqxmd.com/read/29242146/control-of-oocyte-meiotic-maturation-in-c-elegans
#17
REVIEW
Gabriela Huelgas-Morales
In virtually all sexually reproducing animals, oocytes arrest in meiotic prophase and resume meiosis in a conserved biological process called meiotic maturation. Meiotic arrest enables oocytes, which are amongst the largest cells in an organism, to grow and accumulate the necessary cellular constituents required to support embryonic development. Oocyte arrest can be maintained for a prolonged period, up to 50 years in humans, and defects in the meiotic maturation process interfere with the faithful segregation of meiotic chromosomes, representing the leading cause of human birth defects and female infertility...
December 11, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29242055/late-disseminated-lyme-disease-associated-pathology-and-spirochete-persistence-post-treatment-in-rhesus-macaques
#18
Nicholas A Crossland, Xavier Alvarez, Monica E Embers
Non-human primates currently serve as the best experimental model for Lyme disease due to their close genetic homology with humans and demonstration of all three phases of disease following infection with Borreliella (Borrelia) burgdorferi (Bb). We investigated the pathology associated with late disseminated Lyme disease (12 to 13 months following tick inoculation) in doxycycline-treated (28 days; 5mg/kg, oral, 2x/day) and untreated rhesus macaques (Rm). Minimal to moderate lymphoplasmacytic inflammation, with a predilection for perivascular spaces and collagenous tissues, was observed in multiple tissues including the cerebral leptomeninges, brainstem, peripheral nerves from both fore and hind limbs, stifle synovium and perisynovial adipose tissue, urinary bladder, skeletal muscle, myocardium, and visceral pericardium...
December 11, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29242038/nmr-based-phytochemical-analysis-of-vitis-vinifera-cv-falanghina-leaves-characterization-of-a-previously-undescribed-biflavonoid-with-antiproliferative-activity
#19
Luciana Tartaglione, Angelita Gambuti, Paola De Cicco, Giuseppe Ercolano, Angela Ianaro, Orazio Taglialatela-Scafati, Luigi Moio, Martino Forino
Vitis vinifera cv Falanghina is an ancient grape variety of Southern Italy. A thorough phytochemical analysis of the Falanghina leaves was conducted to investigate its specialised metabolite content. Along with already known molecules, such as caftaric acid, quercetin-3-O-β-d-glucopyranoside, quercetin-3-O-β-d-glucuronide, kaempferol-3-O-β-d-glucopyranoside and kaempferol-3-O-β-d-glucuronide, a previously undescribed biflavonoid was identified. For this last compound, a moderate bioactivity against metastatic melanoma cells proliferation was discovered...
December 11, 2017: Fitoterapia
https://www.readbyqxmd.com/read/29241829/the-aged-rhesus-macaque-manifests-braak-stage-iii-iv-alzheimer-s-like-pathology
#20
Constantinos D Paspalas, Becky C Carlyle, Shannon Leslie, Todd M Preuss, Johanna L Crimins, Anita J Huttner, Christopher H van Dyck, Douglas L Rosene, Angus C Nairn, Amy F T Arnsten
INTRODUCTION: An animal model of late-onset Alzheimer's disease is needed to research what causes degeneration in the absence of dominant genetic insults and why the association cortex is particularly vulnerable to degeneration. METHODS: We studied the progression of tau and amyloid cortical pathology in the aging rhesus macaque using immunoelectron microscopy and biochemical assays. RESULTS: Aging macaques exhibited the same qualitative pattern and sequence of tau and amyloid cortical pathology as humans, reaching Braak stage III/IV...
December 11, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
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