Read by QxMD icon Read


Aurélien Macé, Marcus A Tuke, Patrick Deelen, Kati Kristiansson, Hannele Mattsson, Margit Nõukas, Yadav Sapkota, Ursula Schick, Eleonora Porcu, Sina Rüeger, Aaron F McDaid, David Porteous, Thomas W Winkler, Erika Salvi, Nick Shrine, Xueping Liu, Wei Q Ang, Weihua Zhang, Mary F Feitosa, Cristina Venturini, Peter J van der Most, Anders Rosengren, Andrew R Wood, Robin N Beaumont, Samuel E Jones, Katherine S Ruth, Hanieh Yaghootkar, Jessica Tyrrell, Aki S Havulinna, Harmen Boers, Reedik Mägi, Jennifer Kriebel, Martina Müller-Nurasyid, Markus Perola, Markku Nieminen, Marja-Liisa Lokki, Mika Kähönen, Jorma S Viikari, Frank Geller, Jari Lahti, Aarno Palotie, Päivikki Koponen, Annamari Lundqvist, Harri Rissanen, Erwin P Bottinger, Saima Afaq, Mary K Wojczynski, Petra Lenzini, Ilja M Nolte, Thomas Sparsø, Nicole Schupf, Kaare Christensen, Thomas T Perls, Anne B Newman, Thomas Werge, Harold Snieder, Timothy D Spector, John C Chambers, Seppo Koskinen, Mads Melbye, Olli T Raitakari, Terho Lehtimäki, Martin D Tobin, Louise V Wain, Juha Sinisalo, Annette Peters, Thomas Meitinger, Nicholas G Martin, Naomi R Wray, Grant W Montgomery, Sarah E Medland, Morris A Swertz, Erkki Vartiainen, Katja Borodulin, Satu Männistö, Anna Murray, Murielle Bochud, Sébastien Jacquemont, Fernando Rivadeneira, Thomas F Hansen, Albertine J Oldehinkel, Massimo Mangino, Michael A Province, Panos Deloukas, Jaspal S Kooner, Rachel M Freathy, Craig Pennell, Bjarke Feenstra, David P Strachan, Guillaume Lettre, Joel Hirschhorn, Daniele Cusi, Iris M Heid, Caroline Hayward, Katrin Männik, Jacques S Beckmann, Ruth J F Loos, Dale R Nyholt, Andres Metspalu, Johan G Eriksson, Michael N Weedon, Veikko Salomaa, Lude Franke, Alexandre Reymond, Timothy M Frayling, Zoltán Kutalik
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2...
September 29, 2017: Nature Communications
Wen-Hao Yuan, Han-Chu Liu, Ling-Kong Zeng, Xiao-Yan Liu, Ling-Xia Zhao, Lu-Xia Mo
OBJECTIVE: To investigate the influence of thrombelastography index changes on its sensitivity and specificity for diagnosis of disseminated intravascular coagulation (DIC) in children. METHODS: A total of 149 children with DIC in our hospital from June 2013 to June 2016 were selected in DIC group, while 106 cases of non-DIC, including healthy children and children with diseases easily confused with DIC, were selected as non-DIC(control) group. The thrombelastography, D-dimer, coagulation functions including prothrombintime (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB) and fibin degradation product (FDP), congental coagulation disorders and platelet count were detected in DIC and non-DIC groups; the statistics of data was performed and the sensitivity and specificity of thromelastraphy indexes such as R time, α angle MA value and A value were evaluated; the relationship of DIC with indexes was analyzed...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
Fibin Thanveer, Niti Khunger
CONTEXT: A distressing pre-occupation with an imagined or slight defect in appearance with a marked negative effect on the patient's life is the core symptom of body dysmorphic disorder (BDD). AIM: To screen the patients attending a dermatology clinic at a tertiary care centre for BDD using the BDD-dermatology version (DV) questionnaire. SETTINGS AND DESIGN: This cross-sectional study enrolled 245 consecutive patients from the dermatology outpatients clinic...
July 2016: Journal of Cutaneous and Aesthetic Surgery
Thurakkal Salim, Fibin Komu
Rhinosporidiosis is a chronic granulomatous disorder of infective etiology and it frequently affects the nasal cavity and nasopharynx. Involvement of skin in rhinosporidiosis is unusual and it may manifest itself in a diverse manner mimicking several common dermatological conditions. Three cases of cutaneous rhinosporidiosis with different presentations are reported here to highlight the manifold nature of the condition. Cutaneous rhinosporidiosis can mimic several common cutaneous disorders.
March 2016: Indian Journal of Dermatology
A C V Krepischi, M Maschietto, E N Ferreira, A G Silva, S S Costa, I W da Cunha, B D F Barros, P E Grundy, C Rosenberg, D M Carraro
BACKGROUND: Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in order to disclose new candidate genes for Wilms tumorigenesis. RESULTS: Array-CGH of 50 primary WTs without pre-chemotherapy revealed a few recurrent CNAs not previously reported, such as 7q and 20q gains, and 7p loss. Genomic amplifications were exclusively detected in 3 cases of WTs that later relapsed, which also exhibited an increased frequency of gains affecting a 16...
2016: Molecular Cytogenetics
Swanhild U Meyer, Stefan Krebs, Christian Thirion, Helmut Blum, Sabine Krause, Michael W Pfaffl
INTRODUCTION: TNF-α levels are increased during muscle wasting and chronic muscle degeneration and regeneration processes, which are characteristic for primary muscle disorders. Pathologically increased TNF-α levels have a negative effect on muscle cell differentiation efficiency, while IGF1 can have a positive effect; therefore, we intended to elucidate the impact of TNF-α and IGF1 on gene expression during the early stages of skeletal muscle cell differentiation. METHODOLOGY/PRINCIPAL FINDINGS: This study presents gene expression data of the murine skeletal muscle cells PMI28 during myogenic differentiation or differentiation with TNF-α or IGF1 exposure at 0 h, 4 h, 12 h, 24 h, and 72 h after induction...
2015: PloS One
Miguel Miron-Mendoza, Eric Graham, Pouriska Kivanany, Jonathan Quiring, W Matthew Petroll
PURPOSE: We previously reported that extracellular matrix composition (fibrin versus collagen) modulates the pattern of corneal fibroblast spreading and migration in 3-D culture. In this study, we investigate the role of thrombin and cell contractility in mediating these differences in cell behavior. METHODS: To assess cell spreading, corneal fibroblasts were plated on top of fibrillar collagen and fibrin matrices. To assess 3-dimensional cell migration, compacted collagen matrices seeded with corneal fibroblasts were embedded inside acellular collagen or fibrin matrices...
March 2015: Investigative Ophthalmology & Visual Science
Unmesh Katwate, Fibin Baby, Rajeev Raghavan, Neelesh Dahanukar
Francis Day described Pethia punctata from Cochin, on the Malabar (south western) coast of India. Although, the species is now recovered from its synonymy with P. ticto, an accurate diagnosis and description have been lacking. A redescription of P. punctata based on external morphology, osteology and genetics is provided, which revealed that P. muvattupuzhaensis, described from Muvattupuzha River, Ernakulam District, Kerala, India, is its junior synonym. Pethia punctata can be diagnosed from other known species in the genus by a combination of characters including lateral line complete, with 23-25 pored scales; 8 predorsal scales; ½4/1/3½ scales in transverse line; dorsal fin originating almost opposite to, or slightly before pelvic-fin origin; gill rakers 7 on first ceratobranchial; 4+26 total vertebrae; a small black humeral spot covering anterior half of the fourth scale of the row below the lateral-line row; two minute dark spots below the humeral spot; a prominent spot on the caudal peduncle, surrounded by a golden hoop covering scales 19-21 of the lateral-line row; and dorsal fin with 2-3 longitudinal rows of black spots, third row occupying only anterior portion of the fin...
2014: Zootaxa
Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, Seyed Mohammad Akrami, Alexandre Reymond
BACKGROUND: Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unlike dietary intake and renal reabsorption, the importance of de novo biosynthesis pathway in carnitine homeostasis remains unclear, due to lack of animal models and description of a single patient defective in this pathway. CASE PRESENTATION: We identified by array comparative genomic hybridization a 42 months-old girl homozygote for a 221 Kb interstitial deletions at 11p14...
2014: BMC Medical Genetics
Jan Kosla, Michal Dvorak, Vladimir Cermak
The myofibroblast is a mesenchymal cell characterized by synthesis of the extracellular matrix, plus contractile and secretory activities. Myofibroblasts participate in physiological tissue repair, but can also cause devastating fibrosis. They are present in the tumor stroma of carcinomas and contribute to tumor growth and spreading. As myofibroblasts derive from various cell types and appear in a variety of tissues, there is marked variability in their phenotype. As regulatory mechanisms of wound healing are likely conserved among vertebrates, detailed knowledge of these mechanisms in more distant species will help to distinguish general from specific phenomena...
January 15, 2013: Gene
Allen Benziger, Siby Philip, Rajeev Raghavan, Palakkaparambil Hamsa Anvar Ali, Mithun Sukumaran, Josin C Tharian, Neelesh Dahanukar, Fibin Baby, Reynold Peter, Karunakaran Rema Devi, Kizhakke Veetil Radhakrishnan, Mohamed Abdulkather Haniffa, Ralf Britz, Agostinho Antunes
BACKGROUND: The Malabar snakehead Channa diplogramma is one of the most enigmatic and least understood species within the family Channidae, which comprise one of the most important groups of freshwater food fish in tropical Asia. Since its description from peninsular India in 1865, it has remained a taxonomic puzzle with many researchers questioning its validity, based on its striking similarity with the South East Asian C. micropeltes. In this study, we assessed the identity of the Malabar snakehead, C...
2011: PloS One
Johannes Lakner, Christian Seyer, Thomas Hermsdorf, Torsten Schöneberg
BACKGROUND: Fibin was initially discovered as a secreted signal molecule essential for pectoral fin bud initiation in zebrafish. Currently, there is little information about the molecular architecture and biological relevance of fibin in humans and other mammals. RESULTS: Fibin is expressed in cerebellum, skeletal muscle and many other embryonic and adult mouse tissues suggesting not only a role during embryonic development but also in adult functions. A 2.5-kbp genomic sequence fragment upstream of the coding sequence is sufficient to drive and regulate fibin expression through stimulation by glucocorticoids, activators of the protein kinase C signalling pathways and manganese ions...
2011: BMC Biochemistry
Takashi Wakahara, Naoki Kusu, Hajime Yamauchi, Ikuo Kimura, Morichika Konishi, Ayumi Miyake, Nobuyuki Itoh
We identified a novel secreted protein, fibin, in zebrafish, mice and humans. We inhibited its function in zebrafish embryos by injecting antisense fibin morpholino oligonucleotides. A knockdown of fibin function in zebrafish resulted in no pectoral fin bud initiation and abolished the expression of tbx5, which is involved in the specification of pectoral fin identification. The lack of pectoral fins in fibin-knockdown embryos was partially rescued by injection of fibin RNA. fibin was expressed in the lateral plate mesoderm of the presumptive pectoral fin bud regions...
March 15, 2007: Developmental Biology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"