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Christoph Fiehn
PURPOSE OF REVIEW: Familial chilblain lupus belongs to the group of type I interferonopathies and is characterized by typical skin manifestations and acral ischaemia. This review aims to give an overview of clinical signs and the pathophysiological mechanisms. RECENT FINDINGS: There are several mutations that can lead to this autosomal dominant disease. Most frequent is a mutation of the gene for TREX-1. However, as well cases of families with mutations in the SAMHD1 gene and, recently, with one for the gene that codes for the protein stimulator of interferon genes have been described...
August 26, 2017: Current Rheumatology Reports
C Fiehn
Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. A common feature of these genetic defects is that they are all involved in the process of detection of intracellular free DNA, which as a result leads to increased production of type 1 interferons and the induced gene products...
May 2017: Zeitschrift Für Rheumatologie
Parisa Afshari, Marina Myles-Worsley, Ori S Cohen, Josepha Tiobech, Stephen V Faraone, William Byerley, Frank A Middleton
We have recently described a hemi-deletion on chromosome 9p24.2 at the SLC1A1 gene locus and its co-segregation with schizophrenia in an extended Palauan pedigree. This finding represents a point of convergence for several pathophysiological models of schizophrenia. The present report sought to characterize the biological consequences of this hemi-deletion. Dual luciferase assays demonstrated that the partially deleted allele (lacking exon 1 and the native promoter) can drive expression of a 5'-truncated SLC1A1 using sequence upstream of exon 2 as a surrogate promoter...
October 2015: Molecular Neuropsychiatry
Stephen D Deslauriers, Ashley A Alvarez, Randy F Lacey, Brad M Binder, Paul B Larsen
Prior work resulted in identification of an Arabidopsis mutant, eer5-1, with extreme ethylene response in conjunction with failure to induce a subset of ethylene-responsive genes, including AtEBP. EER5, which is a TREX-2 homolog that is part of a nucleoporin complex, functions as part of a cryptic aspect of the ethylene signaling pathway that is required for regulating the magnitude of ethylene response. A suppressor mutagenesis screen was carried out to identify second site mutations that could restore the growth of ethylene-treated eer5-1 to wild-type levels...
October 2015: New Phytologist
Jesse H Kroll, Eben S Cross, James F Hunter, Sidhant Pai, Lisa M M Wallace, Philip L Croteau, John T Jayne, Douglas R Worsnop, Colette L Heald, Jennifer G Murphy, Sheila L Frankel
The high atmospheric concentrations of toxic gases, particulate matter, and acids in the areas immediately surrounding volcanoes can have negative impacts on human and ecological health. To better understand the atmospheric fate of volcanogenic emissions in the near field (in the first few hours after emission), we have carried out real-time measurements of key chemical components of the volcanic plume from Kı̅lauea on the Island of Hawai'i. Measurements were made at two locations, one ∼ 3 km north-northeast of the vent and the other 31 km to the southwest, with sampling at each site spanning a range of meteorological conditions and volcanic influence...
April 7, 2015: Environmental Science & Technology
A L Baray, R Philippot, F Farizon, B Boyer, P Edouard
INTRODUCTION: Hemi-Castaing ligamentoplasty is a treatment for chronic ankle instability, accused of weakening a powerful stabilizing muscle: the peroneus brevis. OBJECTIVES: To assess proprioceptive and muscular impairment following hemi-Castaing and impact on postural control. METHODOLOGY: A retrospective series of 21 patients underwent clinical (Karlsson, AOFAS) and proprioceptive assessment with isokinetic assessment (evertors and invertors) on a Con-Trex dynamometer and postural assessment on a Win-Posturo force platform, at a minimum 6 months postsurgery...
October 2014: Orthopaedics & Traumatology, Surgery & Research: OTSR
Mercè Pamblanco, Paula Oliete-Calvo, Encar García-Oliver, M Luz Valero, Manuel M Sanchez del Pino, Susana Rodríguez-Navarro
Anti-silencing function 1 (Asf1) is a conserved key eukaryotic histone H3/H4 chaperone that participates in a variety of DNA and chromatin-related processes. These include the assembly and disassembly of histones H3 and H4 from chromatin during replication, transcription, and DNA repair. In addition, Asf1 is required for H3K56 acetylation activity dependent on histone acetyltransferase Rtt109. Thus, Asf1 impacts on many aspects of DNA metabolism. To gain insights into the functional links of Asf1 with other cellular machineries, we employed mass spectrometry coupled to tandem affinity purification (TAP) to investigate novel physical interactions of Asf1...
May 2014: Nucleus
Ichiro Taniguchi, Naoto Mabuchi, Mutsuhito Ohno
Nuclear RNA export pathways in eukaryotes are often linked to the fate of a given RNA. Therefore, the choice of export pathway should be well-controlled to avoid an unfavorable effect on gene expression. Although some RNAs could be exported by more than one pathway, little is known about how the choice is regulated. This issue is highlighted when the human immunodeficiency virus type 1 (HIV-1) Rev protein induces the export of singly spliced and unspliced HIV-1 transcripts. How these RNAs are exported is not well understood because such transcripts should have the possibility of utilizing CRM1-dependent export via Rev or cellular TAP/NXF1-dependent export via the transcription/export (TREX) complex, or both...
June 2014: Nucleic Acids Research
Dang Hai Dang Nguyen, Jong-Tae Park, Jae-Hoon Shim, Phuong Lan Tran, Ershita Fitria Oktavina, Thi Lan Huong Nguyen, Sung-Jae Lee, Cheon-Seok Park, Dan Li, Sung-Hoon Park, David Stapleton, Jin-Sil Lee, Kwan-Hwa Park
We studied the activity of a debranching enzyme (TreX) from Sulfolobus solfataricus on glycogen-mimic substrates, branched maltotetraosyl-β-cyclodextrin (Glc₄-β-CD), and natural glycogen to better understand substrate transglycosylation and the effect thereof on glycogen debranching in microorganisms. The validation test of Glc₄-β-CD as a glycogen mimic substrate showed that it followed the breakdown process of the well-known yeast and rat liver extract. TreX catalyzed both hydrolysis of α-1,6-glycosidic linkages and transglycosylation at relatively high (>0...
June 2014: Journal of Bacteriology
Un Ji, Mark Velleux, Pierre Y Julien, Manha Hwang
A three-tiered approach was used to assess erosion risks within the Nakdong River Basin in South Korea and included: (1) a screening based on topography and land use; (2) a lumped parameter analysis using RUSLE; and (3) a detailed analysis using TREX, a fully distributed watershed model. These tiers span a range of spatial and temporal scales, with each tier providing increasing detail and resolution. The first two tiers were applied to the entire Nakdong River Basin and the Naesung Stream watershed was identified as having the highest soil erosion risk and potential for sedimentation problems...
April 1, 2014: Journal of Environmental Management
Dominik M Meinel, Cornelia Burkert-Kautzsch, Anja Kieser, Eoghan O'Duibhir, Matthias Siebert, Andreas Mayer, Patrick Cramer, Johannes Söding, Frank C P Holstege, Katja Sträßer
Messenger RNA (mRNA) synthesis and export are tightly linked, but the molecular mechanisms of this coupling are largely unknown. In Saccharomyces cerevisiae, the conserved TREX complex couples transcription to mRNA export and mediates mRNP formation. Here, we show that TREX is recruited to the transcription machinery by direct interaction of its subcomplex THO with the serine 2-serine 5 (S2/S5) diphosphorylated CTD of RNA polymerase II. S2 and/or tyrosine 1 (Y1) phosphorylation of the CTD is required for TREX occupancy in vivo, establishing a second interaction platform necessary for TREX recruitment in addition to RNA...
November 2013: PLoS Genetics
Sungsu Lim, Jaechan Kwak, Minhoo Kim, Daeyoup Lee
Gene expression is an intricate process tightly linked from gene activation to the nuclear export of mRNA. Recent studies have indicated that the proteasome is essential for gene expression regulation. The proteasome regulatory particle binds to the SAGA complex and affects transcription in an ATP-dependent manner. Here we report that a specific interaction between the proteasomal ATPase, Rpt2p and Sgf73p of the SAGA complex leads to the dissociation of the H2Bub1-deubiquitylating module (herein designated the Sgf73-DUBm) from SAGA both in vitro and in vivo...
2013: Nature Communications
Hongzhong Wu, Chonghong Mao, Georg Duenstl, Wan Su, Su Qian
Hyperphosphatemia is associated with severe decline of renal function in chronic kidney disease and elevates cardiovascular mortality. Type II sodium dependent phosphate transporter 2A (Npt2A) plays a major role in renal phosphate reabsorption and could be explored as a target for anti-hyperphosphatemia therapy. Human Npt2A transporter activity was examined upon transfection into CHO, MDCK, HEK293, Flp-In-CHO and Flp-In-HEK293 cells. Only kidney-derived cells expressed functional Npt2A. HEK293 and Flp-In-HEK293 cell lines stably transfected with hNpt2A could be selected, but these cells were inactive in phosphate transport...
December 5, 2013: European Journal of Pharmacology
A Pontillo, M Girardelli, E Catamo, A J Duarte, S Crovella
TREX-1 is a restriction factor against HIV-1. The coding sequence of TREX1 gene was analysed in HIV+ subjects searching for genetic variations possibly associated with the susceptibility to HIV infection. The single nucleotide polymorphism rs3135945 was significantly associated with HIV infection, emphasizing the involvement of TREX-1 in the anti-HIV response.
December 2013: International Journal of Immunogenetics
Suat Zengin, Mehmet Yılmaz, Behcet Al, Cuma Yildirim, Erdal Yavuz, Aycan Akcali
BACKGROUND AND OBJECTIVE: Carbon monoxide (CO) is the most common cause of fatal poisoning worldwide. Therapeutic red cell exchange (TREX) has been used in the treatment of many different diseases. Therefore, we aimed to evaluate the efficacy of TREX on the clinical status, outcome, and discharge of patients with severe CO poisoning. METHODS: Demographic data, clinical status, and outcomes of 12 patients that were treated with TREX for severe CO poisoning after referral to the Emergency and Hematology Departments of Gaziantep University between November 2011 and April 2012 were evaluated...
October 2013: Journal of Clinical Apheresis
Stefan Rahm, Christian Spross, Fabienne Gerber, Mazda Farshad, Florian M Buck, Norman Espinosa
BACKGROUND: Transfer of the flexor hallucis longus (FHL) tendon aims to restore function and relieve pain in chronic Achilles tendon (AT) disease. The goal of the present study was to investigate the clinical and radiographic outcomes of FHL transfer to the AT and to compare the transtendinous technique to the transosseous technique. We hypothesized that the type of technique would have a notable impact on outcome. METHODS: Forty patients (42 ankles) were retrospectively reviewed and divided into group 1 (transtendinous technique, 22 patients/24 ankles) and group 2 (transosseous technique, 18 patients/18 ankles)...
August 2013: Foot & Ankle International
Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott
BACKGROUND: We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder. METHODS AND RESULTS: Candidate gene sequencing followed by exome sequencing identified a homozygous missense mutation p...
2013: Orphanet Journal of Rare Diseases
Sabine Rohner, Veronique Kalck, Xuefei Wang, Kohta Ikegami, Jason D Lieb, Susan M Gasser, Peter Meister
Some inducible yeast genes relocate to nuclear pores upon activation, but the general relevance of this phenomenon has remained largely unexplored. Here we show that the bidirectional hsp-16.2/41 promoter interacts with the nuclear pore complex upon activation by heat shock in the nematode Caenorhabditis elegans. Direct pore association was confirmed by both super-resolution microscopy and chromatin immunoprecipitation. The hsp-16.2 promoter was sufficient to mediate perinuclear positioning under basal level conditions of expression, both in integrated transgenes carrying from 1 to 74 copies of the promoter and in a single-copy genomic insertion...
March 4, 2013: Journal of Cell Biology
P Edouard, F Degache, R Oullion, J-Y Plessis, S Gleizes-Cervera, P Calmels
This study was conducted to analyze whether internal (IR) and external (ER) rotator shoulder muscles weakness and/or imbalance collected through a preseason assessment could be predictors of subsequent shoulder injury during a season in handball players. In preseason, 16 female elite handball players (HPG) and 14 healthy female nonathletes (CG) underwent isokinetic IR and ER strength test with use of a Con-Trex® dynamometer in a seated position with 45° shoulder abduction in scapular plane, at 60, 120 and 240°/s in concentric and at 60°/s in eccentric, for both sides...
July 2013: International Journal of Sports Medicine
P Edouard, C Bankolé, P Calmels, L Beguin, F Degache
We aimed to analyze the changes in isokinetic internal (IR) and external (ER) rotator muscles fatigue (a) in patients with non-operated recurrent anterior instability, and (b) before and after shoulder surgical stabilization with the Bristow-Latarjet procedure. Thirty-seven patients with non-operated unilateral recurrent anterior post-traumatic instability (NG) were compared with 12 healthy subjects [control group (CG)]. Twenty patients with operated recurrent anterior instability group (OG) underwent isokinetic evaluation before and 3, 6, and 21 months after Bristow-Latarjet surgery...
March 2013: Scandinavian Journal of Medicine & Science in Sports
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