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https://www.readbyqxmd.com/read/28743124/the-role-of-discoidin-domain-receptor-1-in-inflammation-fibrosis-and-renal-disease
#1
Aude Dorison, Jean-Claude Dussaule, Christos Chatziantoniou
Discoidin domain receptors (DDRs) are a family of 2 non-integrin collagen receptors, DDR1 and DDR2, which display a tyrosine kinase activity. They are mainly expressed during embryonic development and their role during adulthood is very limited. DDR1 has been widely studied in several types of cancers, in atherosclerosis and fibrosis, but also in chronic kidney disease (CKD). This review focuses on the role of DDR1 in chronic nephropathies and on the effect of its deletion in the pathological processes involved in renal disease progression...
July 26, 2017: Nephron
https://www.readbyqxmd.com/read/28743105/statistical-interactions-from-a-growth-curve-perspective
#2
Sean M Devlin, Jaya M Satagopan
Logistic regression is widely used to evaluate the association between risk factors and a binary outcome. The logistic curve is symmetric around its point of inflection. Alternative families of curves, such as the additive Gompertz or Guerrero-Johnson models, have been proposed in various scenarios due to their asymmetry: disease risk may initially increase rapidly and be followed by a longer period where the rate of growth slowly decreases. When modeling binary outcomes in relation to risk factors, an additive logistic model may not provide a good fit to the data...
July 26, 2017: Human Heredity
https://www.readbyqxmd.com/read/28743075/preference-of-arabidopsis-thaliana-gh3-5-acyl-amido-synthetase-for-growth-versus-defense-hormone-acyl-substrates-is-dictated-by-concentration-of-amino-acid-substrate-aspartate
#3
Rebecca Mackelprang, Rachel A Okrent, Mary C Wildermuth
The GH3 family of adenylating enzymes conjugate acyl substrates such as the growth hormone indole-3-acetic acid (IAA) to amino acids via a two-step reaction of acyl substrate adenylation followed by amino acid conjugation. Arabidopsis thaliana GH3.5 was previously shown to be unusual in that it could adenylate both IAA and the defense hormone salicylic acid (SA, 2-hydroxybenzoate). Our detailed studies of the kinetics of GH3.5 on a variety of auxin and benzoate substrates provides insight into the acyl preference and reaction mechanism of GH3...
July 22, 2017: Phytochemistry
https://www.readbyqxmd.com/read/28742882/t-cell-intrinsic-tlr2-stimulation-promotes-il-10-expression-and-suppressive-activity-by-cd45rbhi-t-cells
#4
Janice C Jun, Mark B Jones, Douglas M Oswald, Edward S Sim, Amruth R Jonnalagadda, Lori S C Kreisman, Brian A Cobb
While Toll-like receptors (TLRs) represent one of the best characterized innate immune pathways, evidence suggests that TLRs are not restricted to innate leukocytes and some epithelial cells, but are also expressed in T cells. Specifically, published evidence focusing on FoxP3+ regulatory T cells demonstrate that they express functional TLR2, which is already known among the TLR family for its association with immune suppression; however, little is known about the relationship between T cell-intrinsic TLR2 binding and cytokine production, T cell differentiation, or T cell receptor (TCR) stimulation...
2017: PloS One
https://www.readbyqxmd.com/read/28742844/control-of-runx-induced-repression-of-notch-signaling-by-mlf-and-its-partner-dnaj-1-during-drosophila-hematopoiesis
#5
Marion Miller, Aichun Chen, Vanessa Gobert, Benoit Augé, Mathilde Beau, Odile Burlet-Schiltz, Marc Haenlin, Lucas Waltzer
A tight regulation of transcription factor activity is critical for proper development. For instance, modifications of RUNX transcription factors dosage are associated with several diseases, including hematopoietic malignancies. In Drosophila, Myeloid Leukemia Factor (MLF) has been shown to control blood cell development by stabilizing the RUNX transcription factor Lozenge (Lz). However, the mechanism of action of this conserved family of proteins involved in leukemia remains largely unknown. Here we further characterized MLF's mode of action in Drosophila blood cells using proteomic, transcriptomic and genetic approaches...
July 25, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28742823/genome-wide-identification-and-analysis-of-the-mads-box-gene-family-in-bread-wheat-triticum-aestivum-l
#6
Jian Ma, Yujie Yang, Wei Luo, Congcong Yang, Puyang Ding, Yaxi Liu, Linyi Qiao, Zhijian Chang, Hongwei Geng, Penghao Wang, Qiantao Jiang, Jirui Wang, Guoyue Chen, Yuming Wei, Youliang Zheng, Xiujin Lan
The MADS-box genes encode transcription factors with key roles in plant growth and development. A comprehensive analysis of the MADS-box gene family in bread wheat (Triticum aestivum) has not yet been conducted, and our understanding of their roles in stress is rather limited. Here, we report the identification and characterization of the MADS-box gene family in wheat. A total of 180 MADS-box genes classified as 32 Mα, 5 Mγ, 5 Mδ, and 138 MIKC types were identified. Evolutionary analysis of the orthologs among T...
2017: PloS One
https://www.readbyqxmd.com/read/28742600/cholesterol-reduction-and-macrophage-function-role-of-paraoxonases
#7
C Roger White, G M Anantharamaiah
PURPOSE OF REVIEW: Unregulated uptake of oxidized LDL by macrophages to form foam cells is the hallmark for atherosclerosis. The paraoxonase (PON) family of enzymes plays a critical role in attenuating atherosclerotic lesion formation by hydrolyzing lipid peroxides (LOOHs) and preventing the oxidation of LDL particles and by enhancing HDL-mediated cholesterol efflux. Findings in recent years suggest novel mechanisms by which PON isoforms interact with macrophages to regulate cholesterol metabolism and cellular function...
July 22, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28742508/clinical-characterization-of-a-novel-calcium-sensing-receptor-genetic-alteration-in-a-greek-patient-with-autosomal-dominant-hypocalcemia-type-1
#8
Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Theoni Trangas, Evaggelia Bountouvi, Anastasios Papadimitriou
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with ADH. DESIGN: Genetic analysis of the CaSR gene was performed in a patient who presented in the neonatal period with hypocalcemic seizures and biochemical features of ADH...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742469/when-fairness-clashes-with-personal-autonomy-and-parental-authority-a-comparison-of-daughters-and-mothers-reasoning-in-two-cultural-contexts-in-turkey
#9
Melike Acar
The author examined religious and secular daughters' and mothers' reasoning about personal autonomy, maternal authority, and moral concepts in family decision-making situations in urban Turkey. Sixty-eight daughters and 34 mothers were individually interviewed about decision-making autonomy in general issues and hypothetical daughter-mother conflicts. Results indicated participants regardless of their family status and religious background assigned more decision-making autonomy to mothers when evaluating general issues...
May 2017: Journal of Genetic Psychology
https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#10
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#11
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742220/dissecting-functions-of-sepallata-like-mads-box-genes-in-patterning-of-the-pseudanthial-inflorescence-of-gerbera-hybrida
#12
Teng Zhang, Yafei Zhao, Inka Juntheikki, Katriina Mouhu, Suvi K Broholm, Anneke S Rijpkema, Lisa Kins, Tianying Lan, Victor A Albert, Teemu H Teeri, Paula Elomaa
The pseudanthial inflorescences of the sunflower family, Asteraceae, mimic a solitary flower but are composed of multiple flowers. Our studies in Gerbera hybrida indicate functional diversification for SEPALLATA (SEP)-like MADS box genes that often function redundantly in other core eudicots. We conducted phylogenetic and expression analysis for eight SEP-like GERBERA REGULATOR OF CAPITULUM DEVELOPMENT (GRCD) genes, including previously unstudied gene family members. Transgenic gerbera plants were used to infer gene functions...
July 25, 2017: New Phytologist
https://www.readbyqxmd.com/read/28741812/impact-of-binge-eating-disorder-on-functional-impairment-and-work-productivity-in-an-adult-community-sample-in-the-united-states
#13
Manjiri Pawaskar, Edward A Witt, Dylan Supina, Barry K Herman, Thomas A Wadden
AIM: This study compared functioning and productivity in individuals meeting Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) diagnostic criteria for binge eating disorder (BED) to those without BED. METHODS: A sample of US adults from the National Health and Wellness Survey completed an Internet survey in October 2013. In addition to BED diagnostic criteria, the survey assessed functional impairment and productivity, respectively, using the Sheehan Disability Scale (SDS) and Work Productivity and Activity Impairment (WPAI) questionnaire...
July 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#14
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariette J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28741586/a-new-mutation-in-the-calcium-sensing-receptor-gene-causing-hypocalcaemia-case-report-of-a-father-and-two-sons
#15
M K Schoutteten, B Bravenboer, S Seneca, K Stouffs, B Velkeniers
BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who presented with paraesthesias in both limbs. He has two sons (patient II1 a nd I I2)...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28741223/citrulline-metabolism-in-plants
#16
REVIEW
Vijay Joshi, Alisdair R Fernie
Citrulline was chemically isolated more than 100 years ago and is ubiquitous in animals, plants, bacteria, and fungi. Most of the research on plant citrulline metabolism and transport has been carried out in Arabidopsis thaliana and the Cucurbitaceae family, particularly in watermelon which accumulates this non-proteinogenic amino acid to very high levels. Industrially, citrulline is produced via specially optimized microbial strains; however, the amounts present in watermelon render it an economically viable source providing that other high-value compounds can be co-extracted...
July 25, 2017: Amino Acids
https://www.readbyqxmd.com/read/28741098/regulation-of-paclitaxel-activity-by-microtubule-associated-proteins-in-cancer-chemotherapy
#17
REVIEW
Xingjuan Shi, Xiaoou Sun
Microtubules, highly dynamic components of the cytoskeleton, participate in diverse cellular activities such as mitosis, cell migration, and intracellular trafficking. Dysregulation of microtubule dynamics contributes to the development of serious diseases, including cancer. The dynamic properties and functions of microtubule network are regulated by microtubule-associated proteins. Paclitaxel, an anti-microtubule agent of the taxane family, has shown a success in clinical treatment of many cancer patients...
July 24, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28740726/c2h2-zinc-finger-proteins-the-largest-but-poorly-explored-family-of-higher-eukaryotic-transcription-factors
#18
A A Fedotova, A N Bonchuk, V A Mogila, P G Georgiev
The emergence of whole-genome assays has initiated numerous genome-wide studies of transcription factor localizations at genomic regulatory elements (enhancers, promoters, silencers, and insulators), as well as facilitated the uncovering of some of the key principles of chromosomal organization. However, the proteins involved in the formation and maintenance of the chromosomal architecture and the organization of regulatory domains remain insufficiently studied. This review attempts to collate the available data on the abundant but still poorly understood family of proteins with clusters of the C2H2 zinc finger domains...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28740601/synthesis-and-evaluation-of-a-linkable-functional-group-equipped-analogue-of-the-epothilones
#19
Corinne N Foley, Liang-An Chen, Dan L Sackett, James L Leighton
An approach to the validation of a linker strategy for the epothilone family of microtubule-stabilizing agents is reported. An analogue of epothilone B in which the C(6) methyl group has been replaced with a 4-azidobutyl group has been prepared by total chemical synthesis, and amides derived from the azido group have been shown to retain the activity of the parent compound. These results set the stage for an evaluation of the potential of the epothilones to serve as the drug component of antibody-drug conjugates and other selective tumor cell-targeting conjugates...
July 13, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28740575/identification-of-novel-diagnostic-and-prognostic-mirna-signatures-in-endometrial-cancer
#20
Muralidharan Jayaraman, Rangasudhagar Radhakrishnan, Cara A Mathews, Mingda Yan, Sanam Husain, Katherine M Moxley, Yong Sang Song, Danny N Dhanasekaran
With the goal of identifying diagnostic and prognostic biomarkers in endometrial cancer, miRNA-profiling was carried out with formalin-fixed paraffin embedded (FFPE) tissue samples from 49 endometrial cancer patients. Results using an 84-cancer specific miRNA panel identified the upregulation of miR-141-3p and miR-96-5p along with a downregulation of miR-26, miR-126-3p, miR-23b, miR-195-5p, miR-374a and let-7 family of miRNAs in endometrial cancer. We validated the dysregulated expression of the identified miRNAs in a panel of endometrial cancer cell-lines...
May 2017: Genes & Cancer
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