Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family

Conclusions: ERED associated with a COL17A1 mutation has been previously reported in only 6 families, all white. Identification of the c.3156C>T mutation, previously identified in 5 of these 6 families, in the Thai family we report indicates conservation of the genetic basis of ERED across different races and underscores the importance of ophthalmologists around the globe being familiar with ERED, which has only recently become a recognized corneal dystrophy.
Source: Cornea - Category: Opthalmology Tags: Basic Investigation Source Type: research

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Authors: Toraih EA, Ameen HM, Hussein MH, Youssef Elabd AA, Mohamed AM, Abdel-Gawad AR, Fawzy MS Abstract Alopecia areata (AA) is a non-scarring hair loss of autoimmune etiology. The autoimmune regulator (AIRE) gene is believed to be an important driver in AA pathogenesis. Genetic variants can alter mRNA expression levels which may provoke an autoimmune response. A total of 337 males (97 AA patients and 240 controls) were enrolled in the current case-control study. On screening of the most frequent variants in the gene, rs2075876 (A/G) polymorphism in intron 5 was selected and genotyped using Real-Time PCR (polymer...
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research
Contributors : Delphine Laustriat ; Jacqueline Gide ; Laetitia Barrault ; Emilie Chautard ; Clara Benoit-Pilven ; Didier Auboeuf ; Anne Boland ; Christophe Battail ; Fran çois Artiguenave ; Jean-François Deleuze ; Paule Bénit ; Pierre Rustin ; Sylvia Franc ; Guillaume Charpentier ; Denis Furling ; Guillaume Bassez ; Xavier Nissan ; Cécile Martinat ; Marc Peschanski ; Sandrine BaghdoyanSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMajor physiological changes are governed by alternative splicing of RNA, and its misregulation may lead to specific diseases. W...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Kevin I Watt ; Mark Ziemann ; Richard J Mills ; Man-Kit-Sam Lee ; Adam Hagg ; Hongwei Qian ; Fergus L Sully ; Assam El-Osta ; Andrew J Murphy ; Stephen J Tapscott ; James E Hudson ; Paul GregorevicSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensFacioscapulohumeral muscular dystrophy (FSHD) is characterised by a progressive degeneration and weakness of skeletal muscle fibers attributed to inappropriate expression of the transcription factor double homeobox 4 (DUX4). However, the cellular events that precede pathology in DUX4 expressing muscle fibers remain incompletely u...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
This is the first study to demonstrate that active muscle stiffness with and without the stretch reflex and joint stiffness significantly decreased after repeated stretch ‐shortening cycle exercises, although tendon stiffness measured during ramp and ballistic contractions and neuromuscular activities during the measurement of joint stiffness did not. These results suggested that decline in joint stiffness was related to changes in the active muscle stiffness, but not those in tendon properties or neuromuscular activities. AbstractThe purpose of this study was to elucidate the mechanisms of decline in joint stiffness aft...
Source: Physiological Reports - Category: Physiology Authors: Tags: Original Research Source Type: research
This study was designed to assess the cardioprotective effects of acute physical stress against ischemia/reperfusion (I/R) injury through the activation of the sympathetic nervous system. Methods: Thirty-two male Wistar rats were divided into four groups; (1) IR (n = 8): rats underwent I/R, (2) Acute stress (St+IR) (n = 8): physical stress induced 1-hour before I/R, (3) Sympathectomy (Symp+IR) (n = 8): chemical sympathectomy was done 24-hours before I/R and (4) Sympathectomy- physical stress (Symp+St+IR) (n = 8): chemical sympathectomy induced before physical stress and I/R. Chemical sympathectomy was performed using 6-hyd...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
This study was designed to assess the cardioprotective effects of acute physical stress against ischemia/reperfusion (I/R) injury through the activation of the sympathetic nervous system. Methods: Thirty-two male Wistar rats were divided into four groups; (1) IR (n = 8): rats underwent I/R, (2) Acute stress (St+IR) (n = 8): physical stress induced 1-hour before I/R, (3) Sympathectomy (Symp+IR) (n = 8): chemical sympathectomy was done 24-hours before I/R and (4) Sympathectomy- physical stress (Symp+St+IR) (n = 8): chemical sympathectomy induced before physical stress and I/R. Chemical sympathectomy was performed using 6-hyd...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
CONCLUSIONS: Immediate reflex HPV 16/18/45 genotyping of mRNA HPV-positive, cytology-negative patients led to early colposcopic referral and histopathologic diagnoses of three difficult-to-detect, low-stage, cervical adenocarcinomas and significantly increased overall early detection of CIN2+ lesions. PMID: 31603212 [PubMed - as supplied by publisher]
Source: American Journal of Clinical Pathology - Category: Pathology Authors: Tags: Am J Clin Pathol Source Type: research
BDNF Downregulates Adrenergic β-Receptor-Mediated Hypotensive Mechanisms in the Paraventricular Nucleus of the Hypothalamus. Am J Physiol Heart Circ Physiol. 2019 Oct 11;: Authors: Thorsdottir D, Cruickshank NC, Einwag Z, Hennig GW, Erdos B Abstract Brain-derived neurotrophic factor (BDNF) is upregulated in the paraventricular nucleus of the hypothalamus (PVN) in response to hypertensive stimuli such as stress and hyperosmolality, and BDNF, acting in the PVN plays a key role in elevating sympathetic activity and blood pressure. However, downstream mechanisms mediating these effects remain unclear...
Source: American Journal of Physiology. Heart and Circulatory Physiology - Category: Physiology Authors: Tags: Am J Physiol Heart Circ Physiol Source Type: research
This study aimed to assess the development of left ventricular (LV) dysfunction that mimics DMD pathologies in golden retriever muscular dystrophy (GRMD) dogs.
Source: Journal of the American Society of Echocardiography - Category: Cardiology Authors: Source Type: research
Abstract NAFLD is very prevalent worldwide, and is associated with insulin resistance and metabolic syndrome. Stress is physiological and biological response to maintain homeostasis of body against stressors while severe stress response is an important contributor to various illnesses including metabolic syndrome and brain disorders. We have evaluated the effects of intermittent restraint stress on NAFLD in a HFD-fed mouse model. C57/BL6 mice had free access to a 60% HFD for 8 weeks, with or without intermittent restraint stress (3 h) conducted 3 times a week. HFD administration increased fat accumulation in liver...
Source: American Journal of Physiology. Gastrointestinal and Liver Physiology - Category: Physiology Authors: Tags: Am J Physiol Gastrointest Liver Physiol Source Type: research
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