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https://www.readbyqxmd.com/read/28527403/interplay-between-bacillus-subtilis-recd2-and-the-recg-or-ruvab-helicase-in-recombinational-repair
#1
Rubén Torres, Hector Romero, Violeta Rodríguez-Cerrato, Juan C Alonso
Bacillus subtilis AddAB, RecS, RecQ, PcrA, HelD, DinG, RecG, RuvAB, PriA and RecD2 are genuine recombinational repair enzymes, but the biological role of RecD2 is poorly defined. A ΔrecD2 mutation sensitizes cells to DNA-damaging agents that stall or collapse replication forks. We found that this ΔrecD2 mutation impaired growth, and that a mutation in the pcrA gene (pcrA596) relieved this phenotype. The ΔrecD2 mutation was not epistatic to ΔaddAB, ΔrecQ, ΔrecS, ΔhelD, pcrA596 and ΔdinG, but epistatic to recA...
May 12, 2017: DNA Repair
https://www.readbyqxmd.com/read/28527386/gait-patterns-of-children-and-adolescents-with-charcot-marie-tooth-disease
#2
Elizabeth Wojciechowski, Amy Sman, Kayla Cornett, Jacqueline Raymond, Kathryn Refshauge, Manoj P Menezes, Joshua Burns
Gait abnormalities reported in childhood Charcot-Marie-Tooth disease (CMT) include foot-drop, reduced ankle power at push-off and increased knee and hip flexion for swing clearance ('steppage-gait'). The purpose of this study was to describe the gait patterns of 60 children aged 6-17 years with CMT (CMTall) and distinguish differences based on functional weakness using the CMT Pediatric Scale (CMTPedS). Data were captured using Vicon Nexus system and compared to 50 healthy norms. Data were subdivided into three groups denoting increasing severity of dorsiflexion and plantarflexion weakness from the CMTPedS: no difficulty heel or toe walking (CMTND), difficulty heel walking (CMTDH), difficulty toe and heel walking (CMTDTH)...
May 8, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28527383/tributyltin-and-triphenyltin-exposure-promotes-in-vitro-adipogenic-differentiation-but-alters-the-adipocyte-phenotype-in-rainbow-trout
#3
Esmail Lutfi, Natàlia Riera-Heredia, Marlon Córdoba, Cinta Porte, Joaquim Gutiérrez, Encarnación Capilla, Isabel Navarro
Numerous environmental pollutants have been identified as potential obesogenic compounds affecting endocrine signaling and lipid homeostasis. Among them, well-known organotins such as tributyltin (TBT) and triphenyltin (TPT), can be found in significant concentrations in aquatic environments. The aim of the present study was to investigate in vitro the effects of TBT and TPT on the development and lipid metabolism of rainbow trout (Onchorynchus mykiss) primary cultured adipocytes. Results showed that TBT and TPT induced lipid accumulation and slightly enhanced peroxisome proliferator-activated receptor gamma (PPARγ) and CCAAT enhancer binding protein alpha (C/EBPα) protein expression when compared to a control, both in the presence or absence of lipid mixture...
May 8, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28527302/aortic-adventitial-fibroblast-sensitivity-to-mitogen-activated-protein-kinase-inhibitors-depends-on-substrate-stiffness
#4
Rebecca A Scott, Prathamesh M Kharkar, Kristi L Kiick, Robert E Akins
Adventitial fibroblasts (AFs) are key determinants of arterial function and critical mediators of arterial disease progression. The effects of altered stiffness, particularly those observed across individuals during normal vascular function, and the mechanisms by which AFs respond to altered stiffness, are not well understood. To study the effects of matrix stiffness on AF phenotype, cytokine production, and the regulatory pathways utilized to interpret basic cell-matrix interactions, human aortic AFs were grown in 5%, 7...
May 10, 2017: Biomaterials
https://www.readbyqxmd.com/read/28527291/haplotypes-in-ccr5-ccr2-ccl3-and-ccl5-are-associated-with-natural-resistance-to-hiv-1-infection-in-a-colombian-cohort
#5
Jorge A Vega, Simón Villegas-Ospina, Wbeimar Aguilar-Jiménez, María T Rugeles, Gabriel Bedoya, Wildeman Zapata
INTRODUCTION: Variants in genes encoding for HIV-1 co-receptors and their natural ligands have been individually associated to natural resistance to HIV-1 infection. However, the simultaneous presence of these variants has been poorly studied. OBJECTIVE: To evaluate the association of single and multilocus haplotypes in genes coding for the viral co-receptors CCR5 and CCR2, and their ligands CCL3 and CCL5, with resistance or susceptibility to HIV-1 infection. MATERIALS AND METHODS: Nine variants in CCR5-CCR2, two SNPs in CCL3 and two in CCL5 were genotyped by PCR-RFLP in 35 seropositive (cases) and 49 HIV-1-exposed seronegative Colombian individuals (controls)...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#6
Remai Parker, Anja H Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M Stowell
BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function. For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignant hyperthermia or central core disease...
May 15, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#7
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28527151/association-of-the-mir-196a2-mir-146a-and-mir-499-polymorphisms-with-asthma-phenotypes-in-a-korean-population
#8
Hoang Kim Tu Trinh, Duy Le Pham, Su-Chin Kim, Ri-Yeon Kim, Hae-Sim Park, Seung-Hyun Kim
BACKGROUND: MicroRNAs (miRNAs) modulate expressions of inflammatory genes, thereby regulating inflammatory responses. Single nucleotide polymorphisms (SNPs) in miRNAs could affect their efficiency in binding to messenger RNAs (mRNAs). OBJECTIVE: We investigated the associations of miRNA SNPs with asthma phenotypes. miR-196a2 (rs11614913 T>C), miR-146a (rs2910164 C>G), and miR-499 (rs3746444 A>G) were genotyped in 347 asthma patients and 172 normal healthy controls (NCs)...
May 19, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28527137/genome-based-identification-of-heterotic-patterns-in-rice
#9
Ulrike Beukert, Zuo Li, Guozheng Liu, Yusheng Zhao, Nadhigade Ramachandra, Vilson Mirdita, Fabiano Pita, Klaus Pillen, Jochen Christoph Reif
BACKGROUND: Hybrid rice breeding facilitates to increase grain yield and yield stability. Long-term success of hybrid breeding depends on the recognition of high-yielding complementary heterotic patterns, which is lacking in crops like rice. RESULT: The main goal of this study was to evaluate the potential and limits to use genomics for establishing heterotic patterns in rice. For this purpose, data of a commercial hybrid rice breeding program targeted to India was analyzed, including 1,960 phenotyped hybrids from three market segments and 262 genotyped parental lines...
December 2017: Rice
https://www.readbyqxmd.com/read/28527123/clinical-profile-of-juvenile-primary-hyperparathyroidism-a-prospective-study
#10
Federica Saponaro, Claudio Marcocci, Federica Cacciatore, Mario Miccoli, Elena Pardi, Simona Borsari, Gabriele Materazzi, Paolo Miccoli, Filomena Cetani
INTRODUCTION: Juvenile primary hyperparathyroidism is uncommon and more symptomatic than the adult counterpart. The aim of this prospective monocentric study, conducted in a tertiary referral center, was to evaluate the clinical, biochemical, and densitometric data, and the outcome of a series of patients with juvenile primary hyperparathyroidism. MATERIAL AND METHODS: The study group included 154 patients with sporadic and familial juvenile primary hyperparathyroidism, aged ≤40 years...
May 20, 2017: Endocrine
https://www.readbyqxmd.com/read/28527089/pediatric-migraine-with-aura-in-an-italian-case-series
#11
Arens Taga, Marco Russo, Antonio Genovese, Maria Vittoria Paglia, Gian Camillo Manzoni, Paola Torelli
The aim of the present study was to describe the characteristics of migraine with aura (MwA) in a case series of patients with headache onset before 12 years of age. We considered all consecutive patients referred to the Parma Headache Centre between 1975 and 2015 affected by MwA, diagnosed by our team of trained neurologists; the cases were subsequently reviewed applying the ICHD3-beta criteria. We then identified those cases with headache age-of-onset <12 years (i.e., "pediatric" cases), which were compared to all remaining cases...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28527017/juxtaglomerular-cell-phenotypic-plasticity
#12
REVIEW
Alexandre Góes Martini, A H Jan Danser
Renin is the first and rate-limiting step of the renin-angiotensin system. The exclusive source of renin in the circulation are the juxtaglomerular cells of the kidney, which line the afferent arterioles at the entrance of the glomeruli. Normally, renin production by these cells suffices to maintain homeostasis. However, under chronic stimulation of renin release, for instance during a low-salt diet or antihypertensive therapy, cells that previously expressed renin during congenital life re-convert to a renin-producing cell phenotype, a phenomenon which is known as "recruitment"...
May 19, 2017: High Blood Pressure & Cardiovascular Prevention: the Official Journal of the Italian Society of Hypertension
https://www.readbyqxmd.com/read/28526992/epithelial-mesenchymal-transition-emt-in-metastatic-breast-cancer-in-omani-women
#13
Ritu Lakhtakia, Adil Aljarrah, Muhammad Furrukh, Shyam S Ganguly
Breast cancer (BC) in Oman affects younger women and has a more aggressive course. Clinical and biological variables like age, pregnancy, tumor size, type, grade, receptor expression and proliferation predict disease aggression but there is no direct predictor of metastasis except lymphovascular invasion. Epithelial-mesenchymal transition (EMT) is characterized by epithelial cells losing epithelial and acquiring mesenchymal morpho-immunophenotypic characteristics. In tumors, EMT-like transitions may signify a metastatic phenotype and have features in common with cancer stem cells (CSC) which show resistance to chemotherapy...
May 19, 2017: Cancer Microenvironment: Official Journal of the International Cancer Microenvironment Society
https://www.readbyqxmd.com/read/28526981/rubisco-mutants-of-chlamydomonas-reinhardtii-display-divergent-photosynthetic-parameters-and-lipid-allocation
#14
M G Esquível, A R Matos, J Marques Silva
Photosynthesis and lipid allocation were investigated in Rubisco small subunit mutants of the microalga Chlamydomonas reinhardtii. Comparative analyses were undertaken with cells grown photoheterotrophically under sulphur-replete or sulphur-depleted conditions. The Y67A Rubisco mutant, which has previously demonstrated a pronounced reduction in Rubisco levels and higher hydrogen production rates than the wild type, also shows the following divergences in photosynthetic phenotype and lipid allocation: (i) low Fv/Fm (maximum photochemical efficiency), (ii) low effective quantum yield of photosystem II (ΦPSII), (iii) low effectiveness at protection against high light intensities, (iv) a higher level of total lipids per pigment and (v) changes in the relative proportions of different fatty acids, with a marked decrease in unsaturated fatty acids (FAs)...
May 19, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28526948/an-innovative-strategy-to-clone-positive-modifier-genes-of-defects-caused-by-mtdna-mutations-mrps18c-as-suppressor-gene-of-m-3946g-a-mutation-in-mt-nd1-gene
#15
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Francisco Martínez-Azorín
We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically...
May 19, 2017: Human Genetics
https://www.readbyqxmd.com/read/28526913/mapping-qtls-controlling-kernel-dimensions-in-a-wheat-inter-varietal-ril-mapping-population
#16
Ruiru Cheng, Zhongxin Kong, Liwei Zhang, Quan Xie, Haiyan Jia, Dong Yu, Yulong Huang, Zhengqiang Ma
Seven kernel dimension QTLs were identified in wheat, and kernel thickness was found to be the most important dimension for grain weight improvement. Kernel morphology and weight of wheat (Triticum aestivum L.) affect both yield and quality; however, the genetic basis of these traits and their interactions has not been fully understood. In this study, to investigate the genetic factors affecting kernel morphology and the association of kernel morphology traits with kernel weight, kernel length (KL), width (KW) and thickness (KT) were evaluated, together with hundred-grain weight (HGW), in a recombinant inbred line population derived from Nanda2419 × Wangshuibai, with data from five trials (two different locations over 3 years)...
May 19, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28526895/three-novel-xenorhabdus-steinernema-associations-and-evidence-of-strains-of-x-khoisanae-switching-between-different-clades
#17
Jonike Dreyer, Antoinette P Malan, Leon M T Dicks
Xenorhabdus species are normally closely associated with entomopathogenic nematodes of the family Steinernematidae. Strain F2, isolated from Steinernema nguyeni, was identified as Xenorhabdus bovienii and strains J194 and SB10, isolated from Steinernema jeffreyense and Steinernema sacchari as Xenorhabdus khoisanae, based on phenotypic characteristics and sequencing of 16S rRNA and housekeeping genes dnaN, gltX, gyrB, infB and recA. All three strains produced antimicrobial compounds that inhibited the growth of Gram-positive and Gram-negative bacteria...
May 19, 2017: Current Microbiology
https://www.readbyqxmd.com/read/28526873/role-of-s-palmitoylation-by-zdhhc13-in-mitochondrial-function-and-metabolism-in-liver
#18
Li-Fen Shen, Yi-Ju Chen, Kai-Ming Liu, Amir N Saleem Haddad, I-Wen Song, Hsiao-Yuh Roan, Li-Ying Chen, Jeffrey J Y Yen, Yu-Ju Chen, Jer-Yuarn Wu, Yuan-Tsong Chen
Palmitoyltransferase (PAT) catalyses protein S-palmitoylation which adds 16-carbon palmitate to specific cysteines and contributes to various biological functions. We previously reported that in mice, deficiency of Zdhhc13, a member of the PAT family, causes severe phenotypes including amyloidosis, alopecia, and osteoporosis. Here, we show that Zdhhc13 deficiency results in abnormal liver function, lipid abnormalities, and hypermetabolism. To elucidate the molecular mechanisms underlying these disease phenotypes, we applied a site-specific quantitative approach integrating an alkylating resin-assisted capture and mass spectrometry-based label-free strategy for studying the liver S-palmitoylome...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526869/blocking-of-carnitine-palmitoyl-transferase-1-potently-reduces-stress-induced-depression-in-rat-highlighting-a-pivotal-role-of-lipid-metabolism
#19
Anne Skøttrup Mørkholt, Ove Wiborg, Jette G K Nieland, Søren Nielsen, John Dirk Nieland
Major depressive disorder is a complex and common mental disease, for which the pathology has not been elucidated. The purpose of this study is to provide knowledge about the importance of mitochondrial dysfunction, dysregulated lipid metabolism and inflammation. Mitochondrial carnitine palmitoyl transferase 1a (CPT1a) is a key molecule involved in lipid metabolism and mutations in CPT1a causing reduced function is hypothesized to have a protective role in the development of depression. Moreover, CPT1a is found to be upregulated in suicide patients with history of depression...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526854/induction-of-senescence-in-primary-glioblastoma-cells-by-serum-and-tgf%C3%AE
#20
Ritesh Kumar, Alexander Gont, Theodore J Perkins, Jennifer E L Hanson, Ian A J Lorimer
Glioblastoma is the most common type of adult brain tumour and has a median survival after diagnosis of a little more than a year. Glioblastomas have a high frequency of mutations in the TERT promoter and CDKN2A locus that are expected to render them resistant to both replicative and oncogene-induced senescence. However, exposure of PriGO8A primary glioblastoma cells to media with 10% serum induced a senescence-like phenotype characterized by increased senescence-associated β galactosidase activity, PML bodies and p21 and morphological changes typical of senescence...
May 19, 2017: Scientific Reports
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