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https://www.readbyqxmd.com/read/28799194/comparison-of-sleep-structure-and-psychometric-profiles-in-patients-with-fibromyalgia-osteoarthritis-and-healthy-controls
#1
Wai K Yeung, Kevin Morgan, Frank Mckenna
While research indicates that both the macro- and microstructure of sleep may be altered in fibromyalgia syndrome, few studies have controlled for symptom duration or included pain-control participants (i.e. patients with chronic pain and sleep disturbance not associated with fibromyalgia syndrome). A frequently reported alteration found in the sleep microstructure of patients with fibromyalgia syndrome is the alpha-delta sleep anomaly. Although alpha waves have been observed during N3 sleep in healthy individuals, it has been proposed that there is an increase in alpha wave activity during slow-wave sleep in fibromyalgia syndrome...
August 11, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28783043/nbeal2-is-required-for-neutrophil-and-nk-cell-function-and-pathogen-defense
#2
John M Sowerby, David C Thomas, Simon Clare, Marion Espéli, Jose A Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R Barton, Shaun M Flint, Jatinder K Juss, Alison M Condliffe, Paul A Lyons, Ian R Humphreys, Edwin R Chilvers, Willem H Ouwehand, Gordon Dougan, Kenneth Gc Smith
Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS. We therefore investigated the role of NBEAL2 in immunity by analyzing the phenotype of Nbeal2-deficient mice. We found profound abnormalities in the Nbeal2-deficient immune system, particularly in the function of neutrophils and NK cells...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28754676/nsd1-inactivation-and-setd2-mutation-drive-a-convergence-toward-loss-of-function-of-h3k36-writers-in-clear-cell-renal-cell-carcinomas
#3
Xiaoping Su, Jianping Zhang, Roger Mouawad, Eva Compérat, Morgan Roupret, Frederick Allanic, Jérôme Parra, Marc-Olivier Bitker, Erika J Thompson, Banumathy Gowrishankar, Jane Houldsworth, John N Weinstein, Jörg Tost, Bradley M Broom, David Khayat, Jean-Philippe Spano, Nizar M Tannir, Gabriel G Malouf
Extensive dysregulation of chromatin-modifying genes in clear-cell renal cell carcinoma (ccRCC) has been uncovered through next-generation sequencing. However, a scientific understanding of the crosstalk between epigenetic and genomic aberrations remains limited. Here we identify three ccRCC epigenetic clusters, including a clear-cell CpG island methylator phenotype (C-CIMP) subgroup associated with promoter methylation of vascular endothelial growth factor receptor genes (FLT4, FLT1 and KDR). C-CIMP was furthermore characterized by silencing of genes related to vasculature development...
July 28, 2017: Cancer Research
https://www.readbyqxmd.com/read/28743746/de-novo-triiodothyronine-formation-from-thyrocytes-activated-by-thyroid-stimulating-hormone
#4
Cintia E Citterio, Balaji Veluswamy, Sarah J Morgan, Valerie A Galton, J Paul Banga, Stephen Atkins, Yoshiaki Morishita, Susanne Neumann, Rauf Latif, Marvin C Gershengorn, Terry J Smith, Peter Arvan
The thyroid gland secretes primarily tetraiodothyronine (T4), and some triiodothyronine (T3). Under normal physiological circumstances, only one-fifth of circulating T3 is directly released by the thyroid, but in states of hyperactivation of thyroid-stimulating-hormone receptors (TSHRs), patients develop a syndrome of relative T3-toxicosis. Thyroidal T4 production results from iodination of thyroglobulin (TG) at residues Tyr5 and Tyr130, whereas thyroidal T3 production may originate in several different ways...
July 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28730707/establishment-and-characterization-of-a-novel-murine-model-of-pancreatic-cancer-cachexia
#5
Katherine A Michaelis, Xinxia Zhu, Kevin G Burfeind, Stephanie M Krasnow, Peter R Levasseur, Terry K Morgan, Daniel L Marks
BACKGROUND: Cachexia is a complex metabolic and behavioural syndrome lacking effective therapies. Pancreatic ductal adenocarcinoma (PDAC) is one of the most important conditions associated with cachexia, with >80% of PDAC patients suffering from the condition. To establish the cardinal features of a murine model of PDAC-associated cachexia, we characterized the effects of implanting a pancreatic tumour cell line from a syngeneic C57BL/6 KRAS(G12D) P53(R172H) Pdx-Cre(+/+) (KPC) mouse...
July 20, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28696175/venetoclax-a-novel-b-cell-lymphoma-2-inhibitor-for-chronic-lymphocytic-leukemia-and-other-hematologic-malignancies
#6
Jacqueline L Olin, Carrie L Griffiths, Morgan B Smith
Patients with chronic lymphocytic leukemia with the 17p deletion have a poor prognosis and treatment options are limited. Venetoclax, a novel B-cell lymphoma-2 inhibitor, has been approved for treatment-experienced chronic lymphocytic leukemia patients with the 17p deletion. A phase 1 dose-escalation study to 400 mg daily showed overall response rates across all doses of 79% with a complete response achieved in 20%. A phase 2 multicenter open-label study demonstrated overall response rate of 79.4% of patients (95% confidence interval 70...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#7
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#8
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
August 2017: Nature Genetics
https://www.readbyqxmd.com/read/28649192/deleterious-effects-of-chronic-folate-deficiency-in-the-ts65dn-mouse-model-of-down-syndrome
#9
Susan Helm, Morgan Blayney, Taylor Whited, Mahjabin Noroozi, Sen Lin, Semira Kern, David Green, Ahmad Salehi
Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28639312/quantification-of-transmission-risk-in-a-male-patient-with-a-flnb-mosaic-mutation-causing-larsen-syndrome-implications-for-genetic-counselling-in-post-zygotic-mosaicism-cases
#10
Marie Bernkopf, David Hunt, Nils Koelling, Tim Morgan, Amanda L Collins, Joanna Fairhurst, Stephen P Robertson, Andrew G L Douglas, Anne Goriely
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalised counselling on transmission risk to future offspring. Using dideoxy-sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep Next-Generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample...
June 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28606999/invasive-management-strategies-and-antithrombotic-treatments-in-patients-with-non-st-segment-elevation-acute-coronary-syndrome-in-china-findings-from-the-improving-ccc-project-care-for-cardiovascular-disease-in-china
#11
Qing Yang, Ying Wang, Jing Liu, Jun Liu, Yongchen Hao, Sidney C Smith, Yong Huo, Gregg C Fonarow, Changsheng Ma, Junbo Ge, Kathryn A Taubert, Louise Morgan, Yang Guo, Wei Wang, Yujie Zhou, Dong Zhao
BACKGROUND: Early invasive strategies and antithrombotic treatments are key treatments of non-ST-segment-elevation acute coronary syndrome (NSTE-ACS). Few studies have examined the use of these strategies in patients with NSTE-ACS in China. This study aimed to assess the applications of invasive strategies and antithrombotic treatments in patients with NSTE-ACS and compare their outcomes. METHODS AND RESULTS: A nationwide registry study, Improving CCC (Care for Cardiovascular Disease in China) ACS project, was launched in 2014 as a collaborative study of the American Heart Association and Chinese Society of Cardiology (CSC), with 142 participating hospitals reporting details of clinical management and outcomes of patients with NSTE-ACS...
June 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28597237/energy-conserving-thermoregulatory-patterns-and-lower-disease-severity-in-a-bat-resistant-to-the-impacts-of-white-nose-syndrome
#12
Marianne S Moore, Kenneth A Field, Melissa J Behr, Gregory G Turner, Morgan E Furze, Daniel W F Stern, Paul R Allegra, Sarah A Bouboulis, Chelsey D Musante, Megan E Vodzak, Matthew E Biron, Melissa B Meierhofer, Winifred F Frick, Jeffrey T Foster, Daryl Howell, Joseph A Kath, Allen Kurta, Gerda Nordquist, Joseph S Johnson, Thomas M Lilley, Benjamin W Barrett, DeeAnn M Reeder
The devastating bat fungal disease, white-nose syndrome (WNS), does not appear to affect all species equally. To experimentally determine susceptibility differences between species, we exposed hibernating naïve little brown myotis (Myotis lucifugus) and big brown bats (Eptesicus fuscus) to the fungus that causes WNS, Pseudogymnoascus destructans (Pd). After hibernating under identical conditions, Pd lesions were significantly more prevalent and more severe in little brown myotis. This species difference in pathology correlates with susceptibility to WNS in the wild and suggests that survival is related to different host physiological responses...
June 8, 2017: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/28592788/levamisole-induced-leukocytoclastic-vasculitis-with-negative-serology-in-a-cocaine-user
#13
Mashal Salehi, Michael P Morgan, Abigail Gabriel
BACKGROUND Levamisole is a common adulterant of cocaine. It can cause agranulocytosis and cutaneous vasculitis that can possibly lead to cutaneous necrosis. In all reported cases of levamisole-induced vasculitis, it has been described as a clinical syndrome characterized by a constellation of typical clinical features and a positive serum serology for ANCA levels, especially very high-titer p-ANCA levels, in the background of cocaine abuse. However, patients may have a negative serology and here, we present the first such case...
June 8, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28592648/allelic-variation-in-the-toll-like-receptor-adaptor-protein-ticam2-contributes-to-sars-coronavirus-pathogenesis-in-mice
#14
Lisa E Gralinski, Vineet D Menachery, Andrew P Morgan, Allison L Totura, Anne Beall, Jacob Kocher, Jessica Plante, D Corinne Harrison-Shostak, Alexandra Schäfer, Fernando Pardo-Manuel de Villena, Martin T Ferris, Ralph S Baric
Host genetic variation is known to contribute to differential pathogenesis following infection. Mouse models allow direct assessment of host genetic factors responsible for susceptibility to Severe Acute Respiratory Syndrome coronavirus (SARS-CoV). Based on an assessment of early stage lines from the Collaborative Cross mouse multi-parent population, we identified two lines showing highly divergent susceptibilities to SARS-CoV: the resistant CC003/Unc and the susceptible CC053/Unc. We generated 264 F2 mice between these strains, and infected them with SARS-CoV...
June 7, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28555538/comparison-of-self-expandable-and-balloon-expanding-stents-for-hybrid-ductal-stenting-in-hypoplastic-left-heart-complex
#15
Sebastian Goreczny, Shakeel A Qureshi, Eric Rosenthal, Thomas Krasemann, Mohamed S Nassar, David R Anderson, Gareth J Morgan
OBJECTIVES: We aimed to compare the procedural and mid-term performance of a specifically designed self-expanding stent with balloon-expandable stents in patients undergoing hybrid palliation for hypoplastic left heart syndrome and its variants. BACKGROUND: The lack of specifically designed stents has led to off-label use of coronary, biliary, or peripheral stents in the neonatal ductus arteriosus. Recently, a self-expanding stent, specifically designed for use in hypoplastic left heart syndrome, has become available...
July 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28553246/role-of-two-types-of-syntactic-embedding-in-belief-attribution-in-adults-with-or-without-asperger-syndrome
#16
Morgane Clémentine Burnel, Marcela Perrone-Bertolotti, Stephanie Durrleman, Anne C Reboul, Monica Baciu
The role of syntax in belief attribution (BA) is not completely understood in healthy adults and understudied in adults with autism spectrum disorder. Embedded syntax could be useful either for the development of Theory of Mind (ToM) (Emergence account) or more generally over the lifespan (Reasoning account). Two hypotheses have been explored, one suggesting that embedding itself (Relatives and Complement sentences and Metarepresentation account) is important for ToM and another one considering that the embedding of a false proposition into a true one (Complement sentences and Misrepresentation account) is important...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28549093/autoantibodies-in-melanoma-associated-retinopathy-recognize-an-epitope-conserved-between-trpm1-and-trpm3
#17
Robert M Duvoisin, Tammie L Haley, Gaoying Ren, Iwona Strycharska-Orczyk, James P Bonaparte, Catherine W Morgans
Purpose: Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with malignant melanoma and the presence of anti-retinal autoantibodies, including autoantibodies against transient receptor potential melanopsin 1 (TRPM1), a cation channel expressed by both melanocytes and retinal bipolar cells. The goal of this study was to further map the antigenic epitope. Methods: Patient sera were tested by immunofluorescence and Western blotting on HEK293 cells transfected with enhanced green fluorescent protein (EGFP)-TRPM1 fusion constructs and mouse retina sections...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28537398/discovery-of-clinical-candidate-2-2s-6s-2-phenyl-6-hydroxyadamantan-2-yl-1-3-hydroxyazetidin-1-yl-ethanone-bms-816336-an-orally-active-novel-selective-11%C3%AE-hydroxysteroid-dehydrogenase-type-1-inhibitor
#18
Xiang-Yang Ye, Stephanie Y Chen, Shung Wu, David S Yoon, Haixia Wang, Zhenqiu Hong, Stephen P O'Connor, Jun Li, James J Li, Lawrence J Kennedy, Steven J Walker, Akbar Nayeem, Steven Sheriff, Daniel M Camac, Vidyhashankar Ramamurthy, Paul E Morin, Rachel Zebo, Joseph R Taylor, Nathan N Morgan, Randolph P Ponticiello, Thomas Harrity, Atsu Apedo, Rajasree Golla, Ramakrishna Seethala, Mengmeng Wang, Timothy W Harper, Bogdan G Sleczka, Bin He, Mark Kirby, David K Leahy, Jianqing Li, Ronald L Hanson, Zhiwei Guo, Yi-Xin Li, John D DiMarco, Raymond Scaringe, Brad Maxwell, Frederick Moulin, Joel C Barrish, David A Gordon, Jeffrey A Robl
BMS-816336 (6n-2), a hydroxy-substituted adamantyl acetamide, has been identified as a novel, potent inhibitor against human 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) enzyme (IC50 3.0 nM) with >10000-fold selectivity over human 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). 6n-2 exhibits a robust acute pharmacodynamic effect in cynomolgus monkeys (ED50 0.12 mg/kg) and in DIO mice. It is orally bioavailable (%F ranges from 20 to 72% in preclinical species) and has a predicted pharmacokinetic profile of a high peak to trough ratio and short half-life in humans...
June 22, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28534737/integration-of-tmc1-2-into-the-mechanotransduction-complex-in-zebrafish-hair-cells-is-regulated-by-transmembrane-o-methyltransferase-tomt
#19
Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth Busch-Nentwich, Reo Maeda, Rachel Clemens, Jocelyn F Krey, Alex Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson
Transmembrane O-methyltransferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. GFP-tagged Tomt is enriched in the Golgi of hair cells, suggesting that Tomt might regulate the trafficking of other MET components to the hair bundle. We found that Tmc1/2 proteins are specifically excluded from the hair bundle in tomt mutants, whereas other MET complex proteins can still localize to the bundle...
May 23, 2017: ELife
https://www.readbyqxmd.com/read/28501645/targeted-sequencing-identifies-novel-variants-involved-in-autosomal-recessive-hereditary-hearing-loss-in-qatari-families
#20
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto, Khalid Abdulhadi
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
May 4, 2017: Mutation Research
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