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https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#1
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28437085/a-short-covalent-synthesis-of-an-all-carbon-ring-2-rotaxane
#2
Luuk Steemers, Martin J Wanner, Andreas W Ehlers, Henk Hiemstra, Jan H van Maarseveen
While the current supramolecular syntheses of [2]rotaxanes are generally efficient, the final product always retains the functional groups required for non-covalent preorganization. A short and high-yielding covalent-template-assisted approach is reported for the synthesis of a [2]rotaxane. A terephthalic acid template core preorganizes the covalently connected ring precursor fragments to induce a clipping-type cyclization over the thread moiety. Cleavage of the temporary ester bonds that connect the ring and thread fragments liberates the [2]rotaxane...
April 24, 2017: Organic Letters
https://www.readbyqxmd.com/read/28436618/natural-history-of-aortic-root-dilation-through-young-adulthood-in-a-hypermobile-ehlers-danlos-syndrome-cohort
#3
Alyssa Ritter, Carrie Atzinger, Brandon Hays, Jeanne James, Amy Shikany, Derek Neilson, Lisa Martin, Kathryn Nicole Weaver
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#4
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436151/whole-genome-sequence-association-and-ancestry-informed-polygenic-profile-of-eeg-alpha-in-a-native-american-population
#5
Qian Peng, Nicholas J Schork, Kirk C Wilhelmsen, Cindy L Ehlers
EEG alpha activity is the dominant oscillation in most adult humans, is highly heritable, and has been associated with a number of cognitive functions. Two EEG phenotypes, low- and high-voltage alpha (LVA & HVA), have been demonstrated to have high heritabilities. They have different prevalence depending on a population's ancestral origins. In the present study we assessed the influence of ancestry admixture on EEG alpha power, and conducted a whole genome sequencing association analysis and an ancestry-informed polygenic study on those phenotypes in a Native American (NA) population that has a high prevalence of LVA...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28434934/introducing-a-novel-gravitation-based-high-velocity-compaction-analysis-method-for-pharmaceutical-powders
#6
Timo Tanner, Osmo Antikainen, Henrik Ehlers, Jouko Yliruusi
With modern tableting machines large amounts of tablets are produced with high output. Consequently, methods to examine powder compression in a high-velocity setting are in demand. In the present study, a novel gravitation-based method was developed to examine powder compression. A steel bar is dropped on a punch to compress microcrystalline cellulose and starch samples inside the die. The distance of the bar is being read by a high-accuracy laser displacement sensor which provides a reliable distance-time plot for the bar movement...
April 20, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28432113/automated-quantitative-characterisation-of-retinal-vascular-leakage-and-microaneurysms-in-ultra-widefield-fluorescein-angiography
#7
Justis P Ehlers, Kevin Wang, Amit Vasanji, Ming Hu, Sunil K Srivastava
Ultra-widefield fluorescein angiography (UWFA) is an emerging imaging modality used to characterise pathology in the retinal vasculature such as microaneurysms (MAs) and vascular leakage. Despite its potential value for diagnosis and disease surveillance, objective quantitative assessment of retinal pathology by UWFA is currently limited because it requires laborious manual segmentation by trained human graders. In this report, we describe a novel fully automated software platform, which segments MAs and leakage areas in native and dewarped UWFA images with retinal vascular disease...
April 21, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#8
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28430181/supervised-learning-and-dimension-reduction-techniques-for-quantification-of-retinal-fluid-in-optical-coherence-tomography-images
#9
A Breger, M Ehler, H Bogunovic, S M Waldstein, A-M Philip, U Schmidt-Erfurth, B S Gerendas
PurposeThe purpose of the present study is to develop fast automated quantification of retinal fluid in optical coherence tomography (OCT) image sets.MethodsWe developed an image analysis pipeline tailored towards OCT images that consists of five steps for binary retinal fluid segmentation. The method is based on feature extraction, pre-segmention, dimension reduction procedures, and supervised learning tools.ResultsFluid identification using our pipeline was tested on two separate patient groups: one associated to neovascular age-related macular degeneration, the other showing diabetic macular edema...
April 21, 2017: Eye
https://www.readbyqxmd.com/read/28428772/molecular-characterization-of-staphylococcus-aureus-isolated-from-bovine-mastitis-and-close-human-contacts-in-south-african-dairy-herds-genetic-diversity-and-inter-species-host-transmission
#10
Tracy Schmidt, Marleen M Kock, Marthie M Ehlers
Staphylococcus aureus is one of the most common etiological agents of contagious bovine mastitis worldwide. The purpose of this study was to genetically characterize a collection of S. aureus isolates (bovine = 146, human = 12) recovered from cases of bovine mastitis and nasal swabs of close human contacts in the dairy environment. Isolates were screened for a combination of clinically significant antimicrobial and virulence gene markers whilst the molecular epidemiology of these isolates and possible inter-species host transmission was investigated using a combination of genotyping techniques...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28426625/intraoperative-optical-coherence-tomography-assisted-chorioretinal-biopsy-in-the-discover-study
#11
Andrew W Browne, Justis P Ehlers, Sumit Sharma, Sunil K Srivastava
No abstract text is available yet for this article.
April 19, 2017: Retina
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#12
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28419255/unannounced-versus-announced-hospital-surveys-a-nationwide-cluster-randomized-controlled-trial
#13
Lars Holger Ehlers, Katherina Beltoft Simonsen, Morten Berg Jensen, Gitte Sand Rasmussen, Anne Vingaard Olesen
Objective: To evaluate the effectiveness of unannounced versus announced surveys in detecting non-compliance with accreditation standards in public hospitals. Design: A nationwide cluster-randomized controlled trial. Setting and participants: All public hospitals in Denmark were invited. Twenty-three hospitals (77%) (3 university hospitals, 5 psychiatric hospitals and 15 general hospitals) agreed to participate. Intervention: Twelve hospitals were randomized to receive unannounced surveys (intervention group) and eleven hospitals to receive announced surveys (control group)...
April 13, 2017: International Journal for Quality in Health Care
https://www.readbyqxmd.com/read/28414894/effects-of-beat-cancer-randomized-physical-activity-trial-on-subjective-memory-impairments-in-breast-cancer-survivors
#14
Diane K Ehlers, Laura Q Rogers, Kerry S Courneya, Randall S Robbs, Edward McAuley
No abstract text is available yet for this article.
April 16, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28409321/an-integrative-overview-of-the-molecular-and-physiological-responses-of-sugarcane-under-drought-conditions
#15
Camilo Elber Vital, Andrea Giordano, Eduardo de Almeida Soares, Thomas Christopher Rhys Williams, Rosilene Oliveira Mesquita, Pedro Marcus Pereira Vidigal, Amanda de Santana Lopes, Túlio Gomes Pacheco, Marcelo Rogalski, Humberto Josué de Oliveira Ramos, Marcelo Ehlers Loureiro
Drought is the main abiotic stress constraining sugarcane production. However, our limited understanding of the molecular mechanisms involved in the drought stress responses of sugarcane impairs the development of new technologies to increase sugarcane drought tolerance. Here, an integrated approach was performed to reveal the molecular and physiological changes in two closely related sugarcane cultivars, including the most extensively planted cultivar in Brazil (cv. RB867515), in response to moderate (-0.5 MPa) and severe (-1 MPa) drought stress at the transcriptional, translational, and posttranslational levels...
April 13, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28406967/differential-transcriptome-analysis-supports-rhodnius-montenegrensis-and-rhodnius-robustus-hemiptera-reduviidae-triatominae-as-distinct-species
#16
Danila Blanco de Carvalho, Carlos Congrains, Samira Chahad-Ehlers, Heloisa Pinotti, Reinaldo Alves de Brito, João Aristeu da Rosa
Chagas disease is one of the main parasitic diseases found in Latin America and it is estimated that between six and seven million people are infected worldwide. Its etiologic agent, the protozoan Trypanosoma cruzi, is transmitted by triatomines, some of which from the genus Rhodnius. Twenty species are currently recognized in this genus, including some closely related species with low levels of morphological differentiation, such as Rhodnius montenegrensis and Rhodnius robustus. In order to investigate genetic differences between these two species, we generated large-scale RNA-sequencing data (consisting of four RNA-seq libraries) from the heads and salivary glands of males of R...
2017: PloS One
https://www.readbyqxmd.com/read/28401936/bmal1-links-the-circadian-clock-to-viral-airway-pathology-and-asthma-phenotypes
#17
A Ehlers, W Xie, E Agapov, S Brown, D Steinberg, R Tidwell, G Sajol, R Schutz, R Weaver, H Yu, M Castro, L B Bacharier, X Wang, M J Holtzman, J A Haspel
Patients with asthma experience circadian variations in their symptoms. However it remains unclear how specific aspects of this common airway disease relate to clock genes, which are critical to the generation of circadian rhythms in mammals. Here, we used a viral model of acute and chronic airway disease to examine how circadian clock disruption affects asthmatic lung phenotypes. Deletion of the core clock gene bmal1 or environmental disruption of circadian function by jet lag exacerbated acute viral bronchiolitis caused by Sendai virus (SeV) and influenza A virus in mice...
April 12, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28387435/collagen-v-haploinsufficiency-in-a-murine-model-of-classic-ehlers-danlos-syndrome-is-associated-with-deficient-structural-and-mechanical-healing-in-tendons
#18
Jessica M Johnston, Brianne K Connizzo, Snehal S Shetye, Kelsey A Robinson, Julianne Huegel, Ashley B Rodriguez, Mei Sun, Sheila M Adams, David E Birk, Louis J Soslowsky
Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls...
April 7, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#19
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28359939/tropomyosin-1-multiple-roles-in-the-developing-heart-and-in-the-formation-of-congenital-heart-defects
#20
Jennifer England, Javier Granados-Riveron, Luis Polo-Parada, Diji Kuriakose, Christopher Moore, J David Brook, Catrin S Rutland, Kerry Setchfield, Christopher Gell, Tushar K Ghosh, Frances Bu'Lock, Christopher Thornborough, Elisabeth Ehler, Siobhan Loughna
Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. Mutations in these genes have been linked to congenital heart defects (CHDs), occurring in approximately 1 in 145 live births. To date, TPM1 has not been associated with isolated CHDs. Analysis of 380 CHD cases revealed three novel mutations in the TPM1 gene; IVS1+2T>C, I130V, S229F and a polyadenylation signal site variant GATAAA/AATAAA...
March 27, 2017: Journal of Molecular and Cellular Cardiology
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