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Christopher fletcher

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https://www.readbyqxmd.com/read/28931657/neutrophil-transfer-of-mir-223-to-lung-epithelial-cells-dampens-acute-lung-injury-in-mice
#1
Viola Neudecker, Kelley S Brodsky, Eric T Clambey, Eric P Schmidt, Thomas A Packard, Bennett Davenport, Theodore J Standiford, Tingting Weng, Ashley A Fletcher, Lea Barthel, Joanne C Masterson, Glenn T Furuta, Chunyan Cai, Michael R Blackburn, Adit A Ginde, Michael W Graner, William J Janssen, Rachel L Zemans, Christopher M Evans, Ellen L Burnham, Dirk Homann, Marc Moss, Simone Kreth, Kai Zacharowski, Peter M Henson, Holger K Eltzschig
Intercellular transfer of microRNAs can mediate communication between critical effector cells. We hypothesized that transfer of neutrophil-derived microRNAs to pulmonary epithelial cells could alter mucosal gene expression during acute lung injury. Pulmonary-epithelial microRNA profiling during coculture of alveolar epithelial cells with polymorphonuclear neutrophils (PMNs) revealed a selective increase in lung epithelial cell expression of microRNA-223 (miR-223). Analysis of PMN-derived supernatants showed activation-dependent release of miR-223 and subsequent transfer to alveolar epithelial cells during coculture in vitro or after ventilator-induced acute lung injury in mice...
September 20, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28877062/recurrent-braf-gene-fusions-in-a-subset-of-pediatric-spindle-cell-sarcomas-expanding-the-genetic-spectrum-of-tumors-with-overlapping-features-with-infantile-fibrosarcoma
#2
Yu-Chien Kao, Christopher D M Fletcher, Rita Alaggio, Leonard Wexler, Lei Zhang, Yun-Shao Sung, Dicle Orhan, Wei-Chin Chang, David Swanson, Brendan C Dickson, Cristina R Antonescu
Infantile fibrosarcomas (IFS) represent a distinct group of soft tissue tumors occurring in patients under 2 years of age and most commonly involving the extremities. Most IFS show recurrent ETV6-NTRK3 gene fusions, sensitivity to chemotherapy, and an overall favorable clinical outcome. However, outside these well-defined pathologic features, no studies have investigated IFS lacking ETV6-NTRK3 fusions, or tumors with the morphology resembling IFS in older children. This study was triggered by the identification of a novel SEPT7-BRAF fusion in an unclassified retroperitoneal spindle cell sarcoma in a 16-year-old female by targeted RNA sequencing...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28837273/pnl2-an-adjunctive-biomarker-for-renal-angiomyolipomas-and-pecomas
#3
Previn Gulavita, Christopher D M Fletcher, Michelle S Hirsch
AIMS: Renal angiomyolipoma (AML) and perivascular epithelioid cell tumor (PEComa) are members of the microphthalmia-associated transcription factor (MiTF) family of tumors. Traditionally, HMB45 and MelanA have been used to diagnose these lesions; however, low sensitivity can render interpretation difficult. PNL2 is a sensitive and specific biomarker for epithelioid melanoma, and immunoreactivity has also been shown in small series of PEComas. This study determined the utility of PNL2 in MiTF and non-MiTF renal tumors...
August 24, 2017: Histopathology
https://www.readbyqxmd.com/read/28797570/genetic-variants-related-to-longer-telomere-length-are-associated-with-increased-risk-of-renal-cell-carcinoma
#4
Mitchell J Machiela, Jonathan N Hofmann, Robert Carreras-Torres, Kevin M Brown, Mattias Johansson, Zhaoming Wang, Matthieu Foll, Peng Li, Nathaniel Rothman, Sharon A Savage, Valerie Gaborieau, James D McKay, Yuanqing Ye, Marc Henrion, Fiona Bruinsma, Susan Jordan, Gianluca Severi, Kristian Hveem, Lars J Vatten, Tony Fletcher, Kvetoslava Koppova, Susanna C Larsson, Alicja Wolk, Rosamonde E Banks, Peter J Selby, Douglas F Easton, Paul Pharoah, Gabriella Andreotti, Laura E Beane Freeman, Stella Koutros, Demetrius Albanes, Satu Mannisto, Stephanie Weinstein, Peter E Clark, Todd E Edwards, Loren Lipworth, Susan M Gapstur, Victoria L Stevens, Hallie Carol, Matthew L Freedman, Mark M Pomerantz, Eunyoung Cho, Peter Kraft, Mark A Preston, Kathryn M Wilson, J Michael Gaziano, Howard S Sesso, Amanda Black, Neal D Freedman, Wen-Yi Huang, John G Anema, Richard J Kahnoski, Brian R Lane, Sabrina L Noyes, David Petillo, Leandro M Colli, Joshua N Sampson, Celine Besse, Helene Blanche, Anne Boland, Laurie Burdette, Egor Prokhortchouk, Konstantin G Skryabin, Meredith Yeager, Mirjana Mijuskovic, Miodrag Ognjanovic, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, Cezary Cybulski, Eleonora Fabianova, Viorel Jinga, Jolanta Lissowska, Jan Lubinski, Marie Navratilova, Peter Rudnai, Neonila Szeszenia-Dabrowska, Simone Benhamou, Geraldine Cancel-Tassin, Olivier Cussenot, H Bas Bueno-de-Mesquita, Federico Canzian, Eric J Duell, Börje Ljungberg, Raviprakash T Sitaram, Ulrike Peters, Emily White, Garnet L Anderson, Lisa Johnson, Juhua Luo, Julie Buring, I-Min Lee, Wong-Ho Chow, Lee E Moore, Christopher Wood, Timothy Eisen, James Larkin, Toni K Choueiri, G Mark Lathrop, Bin Tean Teh, Jean-Francois Deleuze, Xifeng Wu, Richard S Houlston, Paul Brennan, Stephen J Chanock, Ghislaine Scelo, Mark P Purdue
BACKGROUND: Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings. OBJECTIVE: We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations...
August 7, 2017: European Urology
https://www.readbyqxmd.com/read/28765720/a-global-map-of-saltmarshes
#5
Chris J Mcowen, Lauren V Weatherdon, Jan-Willem Van Bochove, Emma Sullivan, Simon Blyth, Christoph Zockler, Damon Stanwell-Smith, Naomi Kingston, Corinne S Martin, Mark Spalding, Steven Fletcher
BACKGROUND: Saltmarshes are extremely valuable but often overlooked ecosystems, contributing to livelihoods locally and globally through the associated ecosystem services they provide, including fish production, carbon storage and coastal protection. Despite their importance, knowledge of the current spatial distribution (occurrence and extent) of saltmarshes is incomplete. In light of increasing anthropogenic and environmental pressures on coastal ecosystems, global data on the occurrence and extent of saltmarshes are needed to draw attention to these critical ecosystems and to the benefits they generate for people...
2017: Biodiversity Data Journal
https://www.readbyqxmd.com/read/28756533/long-term-spironolactone-treatment-reduces-coronary-trpc-expression-vasoconstriction-and-atherosclerosis-in-metabolic-syndrome-pigs
#6
Wennan Li, Xingjuan Chen, Ashley M Riley, S Christopher Hiett, Constance J Temm, Eleni Beli, Xin Long, Saikat Chakraborty, Mouhamad Alloosh, Fletcher A White, Maria B Grant, Michael Sturek, Alexander G Obukhov
Coronary transient receptor potential canonical (TRPC) channel expression is elevated in metabolic syndrome (MetS). However, differential contribution of TRPCs to coronary pathology in MetS is not fully elucidated. We investigated the roles of TRPC1 and TRPC6 isoforms in coronary arteries of MetS pigs and determined whether long-term treatment with a mineralocorticoid receptor inhibitor, spironolactone, attenuates coronary TRPC expression and associated dysfunctions. MetS coronary arteries exhibited significant atherosclerosis, endothelial dysfunction, and increased histamine-induced contractions...
September 2017: Basic Research in Cardiology
https://www.readbyqxmd.com/read/28739180/uptake-of-mental-health-websites-in-primary-care-insights-from-an-australian-longitudinal-cohort-study-of-depression
#7
Jane Gunn, Jacqui Cameron, Konstancja Densley, Sandra Davidson, Susie Fletcher, Victoria Palmer, Patty Chondros, Christopher Dowrick, Jane Pirkis
OBJECTIVE: To describe the characteristics of primary care attendees with depressive symptoms who use mental health websites. METHODS: 789 individuals with depressive symptoms recruited and followed up annually for nine years. Self-reported written surveys included mental health, professional and self-help use, e-mental health interventions or therapeutic websites. Marginal logistic regression examined association between mental health website (MHW) use and patient's mental health, health services use, anti-depressant use and self-help strategies...
July 11, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28728604/target-d-a-stratified-individually-randomized-controlled-trial-of-the-diamond-clinical-prediction-tool-to-triage-and-target-treatment-for-depressive-symptoms-in-general-practice-study-protocol-for-a-randomized-controlled-trial
#8
Jane Gunn, Caroline Wachtler, Susan Fletcher, Sandra Davidson, Cathrine Mihalopoulos, Victoria Palmer, Kelsey Hegarty, Amy Coe, Elizabeth Murray, Christopher Dowrick, Gavin Andrews, Patty Chondros
BACKGROUND: Depression is a highly prevalent and costly disorder. Effective treatments are available but are not always delivered to the right person at the right time, with both under- and over-treatment a problem. Up to half the patients presenting to general practice report symptoms of depression, but general practitioners have no systematic way of efficiently identifying level of need and allocating treatment accordingly. Therefore, our team developed a new clinical prediction tool (CPT) to assist with this task...
July 20, 2017: Trials
https://www.readbyqxmd.com/read/28691436/viral-kinetics-in-untreated-versus-treated-acute-hiv-infection-in-prospective-cohort-studies-in-thailand
#9
Jintanat Ananworanich, Leigh Anne Eller, Suteeraporn Pinyakorn, Eugene Kroon, Somchai Sriplenchan, James Lk Fletcher, Duanghathai Suttichom, Christopher Bryant, Rapee Trichavaroj, Peter Dawson, Nelson Michael, Nittaya Phanuphak, Merlin L Robb
INTRODUCTION: The extent of viral replication during acute HIV infection (AHI) influences HIV disease progression. However, information comparing viral load (VL) kinetics with and without antiretroviral therapy (ART) in AHI is limited. The knowledge gained could inform preventive strategies aimed at reducing VL during AHI and therapeutic strategies to alter the viral kinetics that may enhance the likelihood of achieving HIV remission. METHODS: The analysis utilized VL data captured during the first year of HIV infection from two studies in Thailand: the RV217 study (untreated AHI, 30 participants and 412 visits) and the RV254 study (treated AHI, 235 participants and 2803 visits)...
June 26, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28659934/morphological-plant-modeling-unleashing-geometric-and-topological-potential-within-the-plant-sciences
#10
REVIEW
Alexander Bucksch, Acheampong Atta-Boateng, Akomian F Azihou, Dorjsuren Battogtokh, Aly Baumgartner, Brad M Binder, Siobhan A Braybrook, Cynthia Chang, Viktoirya Coneva, Thomas J DeWitt, Alexander G Fletcher, Malia A Gehan, Diego Hernan Diaz-Martinez, Lilan Hong, Anjali S Iyer-Pascuzzi, Laura L Klein, Samuel Leiboff, Mao Li, Jonathan P Lynch, Alexis Maizel, Julin N Maloof, R J Cody Markelz, Ciera C Martinez, Laura A Miller, Washington Mio, Wojtek Palubicki, Hendrik Poorter, Christophe Pradal, Charles A Price, Eetu Puttonen, John B Reese, Rubén Rellán-Álvarez, Edgar P Spalding, Erin E Sparks, Christopher N Topp, Joseph H Williams, Daniel H Chitwood
The geometries and topologies of leaves, flowers, roots, shoots, and their arrangements have fascinated plant biologists and mathematicians alike. As such, plant morphology is inherently mathematical in that it describes plant form and architecture with geometrical and topological techniques. Gaining an understanding of how to modify plant morphology, through molecular biology and breeding, aided by a mathematical perspective, is critical to improving agriculture, and the monitoring of ecosystems is vital to modeling a future with fewer natural resources...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28637556/pretrauma-functional-independence-measure-score-predicts-survival-in-geriatric-trauma
#11
Brian Fletcher, Eric Bradburn, Christopher Baker, Bryan Collier, Mark Hamill, Katherine Shaver
The Functional Independence Measure (FIM) is used by rehabilitation professionals to access disability. The FIM score combines both motor and cognitive parameters to assess a patient's level of required assistance in performing activities of daily living (ADL). The geriatric trauma patient is becoming an increasingly important cohort for trauma services. FIM has been shown to predict discharge outcomes and those at high risk for falls. We hypothesized pretrauma FIM scores may predict survival in the geriatric trauma population...
June 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28633111/drought-avoiding-plants-with-low-water-use-can-achieve-high-rainfall-retention-without-jeopardising-survival-on-green-roofs
#12
Christopher Szota, Claire Farrell, Nicholas S G Williams, Stefan K Arndt, Tim D Fletcher
Green roofs are increasingly being used among the suite of tools designed to reduce the volume of surface water runoff generated by cities. Plants provide the primary mechanism for restoring the rainfall retention capacity of green roofs, but selecting plants with high water use is likely to increase drought stress. Using empirically-derived plant physiological parameters, we used a water balance model to assess the trade-off between rainfall retention and plant drought stress under a 30-year climate scenario...
June 17, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28618612/simon-s-fundamental-rich-get-richer-model-entails-a-dominant-first-mover-advantage
#13
Peter Sheridan Dodds, David Rushing Dewhurst, Fletcher F Hazlehurst, Colin M Van Oort, Lewis Mitchell, Andrew J Reagan, Jake Ryland Williams, Christopher M Danforth
Herbert Simon's classic rich-get-richer model is one of the simplest empirically supported mechanisms capable of generating heavy-tail size distributions for complex systems. Simon argued analytically that a population of flavored elements growing by either adding a novel element or randomly replicating an existing one would afford a distribution of group sizes with a power-law tail. Here, we show that, in fact, Simon's model does not produce a simple power-law size distribution as the initial element has a dominant first-mover advantage, and will be overrepresented by a factor proportional to the inverse of the innovation probability...
May 2017: Physical Review. E
https://www.readbyqxmd.com/read/28610254/three-new-macropsini-hemiptera-cicadellidae-leafhopper-species-from-australia
#14
Liyuan Yang, Christopher H Dietrich, Yalin Zhang
Three new species, Macropsella recta, Toropsis minuspina and Varicopsella apecurvata spp. nov. are described and illustrated from Australia.       Leafhoppers of the subfamily Macropsinae are found abundantly in the Holarctic, Oriental and Australian regions (Linnavuori, 1978) and have been collected from around the world, except for Antarctica, Oceania and South America (Hamilton, 1980). Both Hamilton (1980) and Evans (1966) suggested that there were likely a myriad of uncollected and undescribed species in Australia alone and Evans (1971) commented that the Macropsinae are possibly more abundant in Australia than anywhere else in the world...
June 2, 2017: Zootaxa
https://www.readbyqxmd.com/read/28598434/genome-wide-association-study-identifies-multiple-risk-loci-for-renal-cell-carcinoma
#15
Ghislaine Scelo, Mark P Purdue, Kevin M Brown, Mattias Johansson, Zhaoming Wang, Jeanette E Eckel-Passow, Yuanqing Ye, Jonathan N Hofmann, Jiyeon Choi, Matthieu Foll, Valerie Gaborieau, Mitchell J Machiela, Leandro M Colli, Peng Li, Joshua N Sampson, Behnoush Abedi-Ardekani, Celine Besse, Helene Blanche, Anne Boland, Laurie Burdette, Amelie Chabrier, Geoffroy Durand, Florence Le Calvez-Kelm, Egor Prokhortchouk, Nivonirina Robinot, Konstantin G Skryabin, Magdalena B Wozniak, Meredith Yeager, Gordana Basta-Jovanovic, Zoran Dzamic, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, Cezary Cybulski, Eleonora Fabianova, Viorel Jinga, Jolanta Lissowska, Jan Lubinski, Marie Navratilova, Peter Rudnai, Neonila Szeszenia-Dabrowska, Simone Benhamou, Geraldine Cancel-Tassin, Olivier Cussenot, Laura Baglietto, Heiner Boeing, Kay-Tee Khaw, Elisabete Weiderpass, Borje Ljungberg, Raviprakash T Sitaram, Fiona Bruinsma, Susan J Jordan, Gianluca Severi, Ingrid Winship, Kristian Hveem, Lars J Vatten, Tony Fletcher, Kvetoslava Koppova, Susanna C Larsson, Alicja Wolk, Rosamonde E Banks, Peter J Selby, Douglas F Easton, Paul Pharoah, Gabriella Andreotti, Laura E Beane Freeman, Stella Koutros, Demetrius Albanes, Satu Männistö, Stephanie Weinstein, Peter E Clark, Todd L Edwards, Loren Lipworth, Susan M Gapstur, Victoria L Stevens, Hallie Carol, Matthew L Freedman, Mark M Pomerantz, Eunyoung Cho, Peter Kraft, Mark A Preston, Kathryn M Wilson, J Michael Gaziano, Howard D Sesso, Amanda Black, Neal D Freedman, Wen-Yi Huang, John G Anema, Richard J Kahnoski, Brian R Lane, Sabrina L Noyes, David Petillo, Bin Tean Teh, Ulrike Peters, Emily White, Garnet L Anderson, Lisa Johnson, Juhua Luo, Julie Buring, I-Min Lee, Wong-Ho Chow, Lee E Moore, Christopher Wood, Timothy Eisen, Marc Henrion, James Larkin, Poulami Barman, Bradley C Leibovich, Toni K Choueiri, G Mark Lathrop, Nathaniel Rothman, Jean-Francois Deleuze, James D McKay, Alexander S Parker, Xifeng Wu, Richard S Houlston, Paul Brennan, Stephen J Chanock
Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10(-10)), 3p22.1 (rs67311347, P=2.5 × 10(-8)), 3q26...
June 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28551330/histopathologic-evaluation-of-atypical-neurofibromatous-tumors-and-their-transformation-into-malignant-peripheral-nerve-sheath-tumor-in-neurofibromatosis-1-patients-a-consensus-overview
#16
Markku M Miettinen, Cristina R Antonescu, Christopher D M Fletcher, Aerang Kim, Alexander J Lazar, Martha M Quezado, Karlyne M Reilly, Anat Stemmer-Rachamimov, Douglas R Stewart, David Viskochil, Brigitte Widemann, Arie Perry
Neurofibromatosis 1 (NF1) patients develop multiple neurofibromas, with 8-15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, following a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant trans-formation of neurofibromas. Nuclear atypia alone is generally insignificant...
May 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/28512850/in-situ-handheld-3d-bioprinting-for-cartilage-regeneration
#17
Claudia Di Bella, Serena Duchi, Cathal D O'Connell, Romane Blanchard, Cheryl Augustine, Zhilian Yue, Fletcher Thompson, Christopher Richards, Stephen Beirne, Carmine Onofrillo, Sebastien H Bauquier, Stewart D Ryan, Peter Pivonka, Gordon G Wallace, Peter F Choong
Articular cartilage injuries experienced at an early age can lead to the development of osteoarthritis later in life. In situ 3D printing is an exciting and innovative bio-fabrication technology that enables the surgeon to deliver tissue- engineering techniques at the time and location of need. We have created a hand- held 3D printing device (Biopen) that allows the simultaneous co-axial extrusion of bioscaffold and cultured cells directly into the cartilage defect in vivo in a single session surgery. This pilot study assesses the ability of the Biopen to repair a full thickness chondral defect and the early outcomes in cartilage regeneration, and compares these results to other treatments in a large animal model...
May 17, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28505006/myopericytomatosis-clinicopathologic-analysis-of-11-cases-with-molecular-identification-of-recurrent-pdgfrb-alterations-in-myopericytomatosis-and-myopericytoma
#18
Yin P Hung, Christopher D M Fletcher
Myopericytoma is a benign tumor of concentrically distributed perivascular myoid cells. Its molecular basis and relationship with myofibroma/myofibromatosis and other pericytic tumors are not fully understood. In our consultation/surgical files of over 1000 myopericytic lesions, we identified 11 cases with diffuse dermal/subcutaneous involvement by microscopic myopericytomatous nodules, a phenomenon we have termed myopericytomatosis. Myopericytomatosis affected mostly adults (female:male=8:3; median age, 37 y; range, 9 to 63 y) in the lower extremities (foot/ankle, 5; calf, 3; knee, 1; thigh, 1; neck, 1) over months to 25 years, ranging from 1...
August 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28505004/a-subset-of-malignant-mesotheliomas-in-young-adults-are-associated-with-recurrent-ewsr1-fus-atf1-fusions
#19
Patrice Desmeules, Philippe Joubert, Lei Zhang, Hikmat A Al-Ahmadie, Christopher D Fletcher, Efsevia Vakiani, Deborah F Delair, Natasha Rekhtman, Marc Ladanyi, William D Travis, Cristina R Antonescu
Malignant mesothelioma (MM) is a rare, aggressive tumor often associated with asbestos exposure and characterized by complex genetic abnormalities, including deletions of chromosome 22. A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM. However, the incidence of EWSR1 rearrangements in MM and the spectrum of its fusion partners remain unknown. We recently encountered 2 MM cases with EWSR1-ATF1 fusions and sought to investigate the prevalence and clinicopathologic features associated with this abnormality...
July 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#20
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
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