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https://www.readbyqxmd.com/read/29068549/expanding-the-genetic-architecture-and-phenotypic-spectrum-in-the-skeletal-ciliopathies
#1
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis van Creveld (EVC) syndrome and cranioectodermal dysplasia (CED) phenotypes...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28973407/gli1-inactivation-is-associated-with-developmental-phenotypes-overlapping-with-ellis-van-creveld-syndrome
#2
Adrian Palencia-Campos, Asmat Ullah, Julian Nevado, Ruken Yildirim, Edip Unal, Maria Ciorraga, Pilar Barruz, Lucia Chico, Francesca Piceci-Sparascio, Valentina Guida, Alessandro De Luca, Hülya Kayserili, Irfan Ullah, Margit Burmeister, Pablo Lapunzina, Wasim Ahmad, Aixa Morales, Victor L Ruiz-Perez
GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. We describe eight patients from three independent families having biallelic truncating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld syndrome (EvC), a disease caused by diminished Hh signalling...
August 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28955269/category-selectivity-of-human-visual-cortex-in-perception-of-rubin-face-vase-illusion
#3
Xiaogang Wang, Na Sang, Lei Hao, Yong Zhang, Taiyong Bi, Jiang Qiu
When viewing the Rubin face-vase illusion, our conscious perception spontaneously alternates between the face and the vase; this illusion has been widely used to explore bistable perception. Previous functional magnetic resonance imaging (fMRI) studies have studied the neural mechanisms underlying bistable perception through univariate and multivariate pattern analyses; however, no studies have investigated the issue of category selectivity. Here, we used fMRI to investigate the neural mechanisms underlying the Rubin face-vase illusion by introducing univariate amplitude and multivariate pattern analyses...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28950429/the-role-of-ellis-van-creveld-2-evc2-in-mice-during-cranial-bone-development
#4
Edwin K Kwon, Ke'ale Louie, Anshul Kulkarni, Marilia Yatabe, Antonio Carlos de Oliveira Ruellas, Taylor N Snider, Yoshiyuki Mochida, Lucia H S Cevidanes, Yuji Mishina, Honghao Zhang
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants...
September 26, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28857138/biallelic-mutations-in-dync2li1-are-a-rare-cause-of-ellis-van-creveld-syndrome
#5
Marcello Niceta, Katia Margiotti, Maria Cristina Digilio, Valentina Guida, Alessandro Bruselles, Simone Pizzi, Alessandro Ferraris, Luigi Memo, Nicola Laforgia, Maria Lisa Dentici, Federica Consoli, Isabella Torrente, Victor L Ruiz-Perez, Bruno Dallapiccola, Bruno Marino, Alessandro De Luca, Marco Tartaglia
Ellis van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with three affected members, and mutation scanning of a panel of clinically and functionally relevant genes was performed in 24 additional subjects with features fitting/overlapping EvC...
August 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28854412/wide-spread-cone-shaped-epiphyses-in-two-saudi-siblings-with-ellis-van-creveld-syndrome
#6
Abeer Al-Fardan, Mohammad M Al-Qattan
INTRODUCTION: Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES: We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting finding in our patients was the wide - spread cone-shaped epiphyses in the hands and feet...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28658363/early-vertical-correction-of-the-deep-curve-of-spee
#7
Renato Parsekian Martins
Even though few technological advancements have occurred in Orthodontics recently, the search for more efficient treatments continues. This paper analyses how to accelerate and improve one of the most arduous phases of orthodontic treatment, i.e., correction of the curve of Spee. The leveling of a deep curve of Spee can happen simultaneously with the alignment phase through a method called Early Vertical Correction (EVC). This technique uses two cantilevers affixed to the initial flexible archwire. This paper describes the force system produced by EVC and how to control its side effects...
March 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28635541/association-between-abnormal-brain-functional-connectivity-in-children-and-psychopathology-a-study-based-on-graph-theory-and-machine-learning
#8
João Ricardo Sato, Claudinei Eduardo Biazoli, Giovanni Abrahão Salum, Ary Gadelha, Nicolas Crossley, Gilson Vieira, André Zugman, Felipe Almeida Picon, Pedro Mario Pan, Marcelo Queiroz Hoexter, Edson Amaro, Mauricio Anés, Luciana Monteiro Moura, Marco Antonio Gomes Del'Aquilla, Philip Mcguire, Luis Augusto Rohde, Euripedes Constantino Miguel, Andrea Parolin Jackowski, Rodrigo Affonseca Bressan
OBJECTIVES: One of the major challenges facing psychiatry is how to incorporate biological measures in the classification of mental health disorders. Many of these disorders affect brain development and its connectivity. In this study, we propose a novel method for assessing brain networks based on the combination of a graph theory measure (eigenvector centrality) and a one-class support vector machine (OC-SVM). METHODS: We applied this approach to resting-state fMRI data from 622 children and adolescents...
February 8, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28570402/genetic-factors-involved-in-mandibular-prognathism
#9
Anna Doraczynska-Kowalik, Kamil H Nelke, Wojciech Pawlak, Maria M Sasiadek, Hanna Gerber
Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns...
May 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28523436/hrm-and-snapshot-as-alternative-forensic-snp-genotyping-methods
#10
Bhavik Mehta, Runa Daniel, Dennis McNevin
Single nucleotide polymorphisms (SNPs) have been widely used in forensics for prediction of identity, biogeographical ancestry (BGA) and externally visible characteristics (EVCs). Single base extension (SBE) assays, most notably SNaPshot® (Thermo Fisher Scientific), are commonly used for forensic SNP genotyping as they can be employed on standard instrumentation in forensic laboratories (e.g. capillary electrophoresis). High resolution melt (HRM) analysis is an alternative method and is a simple, fast, single tube assay for low throughput SNP typing...
May 18, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28424604/mapping-critical-language-sites-in-children-performing-verb-generation-whole-brain-connectivity-and-graph-theoretical-analysis-in-meg
#11
Vahab Youssofzadeh, Brady J Williamson, Darren S Kadis
A classic left frontal-temporal brain network is known to support language processes. However, the level of participation of constituent regions, and the contribution of extra-canonical areas, is not fully understood; this is particularly true in children, and in individuals who have experienced early neurological insult. In the present work, we propose whole-brain connectivity and graph-theoretical analysis of magnetoencephalography (MEG) source estimates to provide robust maps of the pediatric expressive language network...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28322774/development-and-reliability-of-the-new-endoscopic-virtual-chromoendoscopy-score-the-picasso-paddington-international-virtual-chromoendoscopy-score-in-ulcerative%C3%A2-colitis
#12
Marietta Iacucci, Marco Daperno, Mark Lazarev, Razvan Arsenascu, Gian Eugenio Tontini, Oluseyi Akinola, Xianyong Sean Gui, Vincenzo Villanacci, Martin Goetz, Mark Lowerison, Brendan Cord Lethebe, Maurizio Vecchi, Helmut Neumann, Subrata Ghosh, Raf Bisschops, Ralf Kiesslich
BACKGROUND AND AIMS: Endoscopic inflammation and healing are important therapeutic endpoints in ulcerative colitis (UC). We developed and validated a new electronic virtual chromoendoscopy (EVC) score that could reflect the full spectrum of mucosal and vascular changes including mucosal healing in UC. METHODS: Eight participants reviewed a 60-minute training module outlining 3 different i-SCAN modes demonstrating the entire spectrum of inflammatory mucosal and vascular changes in UC...
March 18, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28314239/likelihood-ratio-and-posterior-odds-in-forensic-genetics-two-sides-of-the-same-coin
#13
Amke Caliebe, Susan Walsh, Fan Liu, Manfred Kayser, Michael Krawczak
It has become widely accepted in forensics that, owing to a lack of sensible priors, the evidential value of matching DNA profiles in trace donor identification or kinship analysis is most sensibly communicated in the form of a likelihood ratio (LR). This restraint does not abate the fact that the posterior odds (PO) would be the preferred basis for returning a verdict. A completely different situation holds for Forensic DNA Phenotyping (FDP), which is aimed at predicting externally visible characteristics (EVCs) of a trace donor from DNA left behind at the crime scene...
May 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28130474/design-and-validation-of-the-gi-nec-score-to-prognosticate-overall-survival-in-patients-with-high-grade-gastrointestinal-neuroendocrine-carcinomas
#14
MULTICENTER STUDY
Angela Lamarca, Thomas Walter, Marianne Pavel, Ivan Borbath, Patricia Freis, Barbara Nuñez, Alexa Childs, Mairéad G McNamara, Richard A Hubner, Rocio Garcia-Carbonero, Tim Meyer, Juan W Valle, Jorge Barriuso
Background: Prognostic markers for risk stratification of patients with gastrointestinal high-grade neuroendocrine carcinomas (GI-NECs) are lacking; we designed and validated a prognostic score for overall survival (OS). Methods: Consecutive patients diagnosed in five neuroendocrine specialist European centers were included. Patients were divided into three cohorts: a training cohort (TC), an external validation cohort (EVC), and a prospective validation cohort (PVC)...
January 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28081373/loss-of-function-of-evc2-in-dental-mesenchyme-leads-to-hypomorphic-enamel
#15
H Zhang, H Takeda, T Tsuji, N Kamiya, T Kunieda, Y Mochida, Y Mishina
Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by short stature and postaxial polydactyly. A series of dental abnormalities, including hypomorphic enamel formation, has been reported in patients with EvC. Despite previous studies that attempted to uncover the mechanism leading to abnormal tooth development, little is known regarding how hypomorphic enamel is formed in patients with EvC. In the current study, using Evc2/ Limbin mutant mice we recently generated, we analyzed enamel formation in the mouse incisor...
April 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28027321/elevated-fibroblast-growth-factor-signaling-is-critical-for-the-pathogenesis-of-the-dwarfism-in-evc2-limbin-mutant-mice
#16
Honghao Zhang, Nobuhiro Kamiya, Takehito Tsuji, Haruko Takeda, Greg Scott, Sudha Rajderkar, Manas K Ray, Yoshiyuki Mochida, Benjamin Allen, Veronique Lefebvre, Irene H Hung, David M Ornitz, Tetsuo Kunieda, Yuji Mishina
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27995319/prediction-of-biogeographical-ancestry-from-genotype-a-comparison-of-classifiers
#17
Elaine Y Y Cheung, Michelle Elizabeth Gahan, Dennis McNevin
DNA can provide forensic intelligence regarding a donor's biogeographical ancestry (BGA) and other externally visible characteristics (EVCs). A number of algorithms have been proposed to assign individual human genotypes to a BGA using ancestry informative marker (AIM) panels. This study compares the BGA assignment accuracy of the population clustering program STRUCTURE and three generic classification approaches including a Bayesian algorithm, genetic distance, and multinomial logistic regression (MLR). A selection of 142 ancestry informative single nucleotide polymorphisms (SNPs) were chosen from existing marker panels (SNPforID 34-plex, Eurasiaplex, Seldin, and Kidd's AIM panels) to assess BGA classification at the continental level for Africans, Europeans, East Asians, and Amerindians...
July 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27886158/recanalization-and-rupture-after-intracranial-aneurysm-treatment
#18
Emmanuel Costa, Geraldo R Vaz, Patrice Finet, Pierre Goffette, Marie A Docquier, Christian Raftopoulos
BACKGROUND: Treatment of intra cranial aneurysm (ICA) can sometimes required several procedures. The aim of this study is to analyze the risk of recanalization and rupture recurrence after ICA treatment by endovascular coiling (EVC) or surgical clipping (SC) on a very long follow-up. METHODS: Clinical data of 373 consecutive patients treated in our group between January 1996 and December 2006 as well by EVC as by SC for ruptured (RIA) or unruptured intracranial aneurysm (UIA), were reviewed...
November 25, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27751531/the-anatomy-of-non-conscious-recognition-memory
#19
REVIEW
Clive R Rosenthal, David Soto
Cortical regions as early as primary visual cortex have been implicated in recognition memory. Here, we outline the challenges that this presents for neurobiological accounts of recognition memory. We conclude that understanding the role of early visual cortex (EVC) in this process will require the use of protocols that mask stimuli from visual awareness.
November 2016: Trends in Neurosciences
https://www.readbyqxmd.com/read/27717584/parkinson-s-disease-snca-park2-and-lrrk2-targeting-micrornas-elevated-in-cingulate-gyrus
#20
Roman Tatura, Theo Kraus, Armin Giese, Thomas Arzberger, Malte Buchholz, Günter Höglinger, Ulrich Müller
INTRODUCTION: In order to better understand the role of epigenetic influences in the etiology of Parkinson's disease (PD), we studied the expression of microRNAs in gyri cinguli of patients and controls. METHODS: Expression profiling of 744 well-characterized microRNAs in gyri cinguli from patients and controls using TaqMan array microRNA cards. Verification of significantly dysregulated microRNAs by SYBR Green qRT-PCR. RESULTS: First screen by TaqMan array identified 43 microRNAs that were upregulated in gyri cinguli from patients...
December 2016: Parkinsonism & related Disorders
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