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Barbara M Wirostko, Karen Curtin, Robert Ritch, Samuel Thomas, Kristina Allen-Brady, Ken R Smith, Gregory S Hageman, R Rand Allingham
Importance: Exfoliation syndrome, an inherited systemic disorder of elastin and extracellular matrix (ECM), is associated with the LOXL1 gene locus. Pelvic organ prolapse is a common connective tissue disorder that affects women. The presence of an association between exfoliation syndrome (exfoliation of the lens capsule) and pelvic organ prolapse was investigated as part of the Utah Project on Exfoliation Syndrome (UPEXS). Objective: To examine the association between exfoliation syndrome and pelvic organ prolapse using the Utah Population Database, a comprehensive resource linked to medical records...
September 15, 2016: JAMA Ophthalmology
Léa Moulin, Valérie Cenizo, Alengo Nyamay Antu, Valérie Andre-Frei, Sabine Pain, Pascal Sommer, Romain Debret
Lysyl oxidase-like 1 (LOXL1) is an amino-oxidase involved in maturation of elastic fibres. Its downregulation has been associated with elastic fibres repair loss in ageing aorta, lung, ligament and skin. Several evidences of LOXL1 epigenetic silencing by promoter methylation were reported in cancer and cutis laxa syndrome. We hypothesised that this mechanism could be implicated in skin ageing process, as far as elastic fibres are also concerned. Anti-DNMT3A chromatin immuno-precipitation was conducted with nuclear extracts from skin fibroblasts isolated from young and elderly individuals, and showed a higher level of DNMT3A protein binding to the LOXL1 promoter in older cells concomitantly to the decrease of LOXL1 mRNA expression and the increase of LOXL1 promoter methylation...
July 10, 2016: Rejuvenation Research
Andrew Want, Stephanie R Gillespie, Zheng Wang, Ronald Gordon, Carlo Iomini, Robert Ritch, J Mario Wolosin, Audrey M Bernstein
PURPOSE: To test the hypothesis that autophagy dysfunction is involved in exfoliation syndrome (XFS), a systemic disorder of extracellular elastic matrices that causes a distinct form of human glaucoma. METHODS: Fibroblasts derived from tenon tissue discards (TFs) from filtration surgery to relieve intraocular pressure in XFS patients were compared against age-matched TFs derived from surgery in primary open-angle glaucoma (POAG) patients or from strabismus surgery...
2016: PloS One
Takako Sasaki, Franz-Georg Hanisch, Rainer Deutzmann, Lynn Y Sakai, Tetsushi Sakuma, Tatsuo Miyamoto, Takashi Yamamoto, Ewald Hannappel, Mon-Li Chu, Harald Lanig, Klaus von der Mark
Fibulin-4 is a 60kDa calcium binding glycoprotein that has an important role in development and integrity of extracellular matrices. It interacts with elastin, fibrillin-1 and collagen IV as well as with lysyl oxidases and is involved in elastogenesis and cross-link formation. To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. The pathogenetic mechanisms how these mutations translate into the clinical phenotype are, however, poorly understood...
June 23, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
M B Khadzhieva, S V Kamoeva, A V Ivanova, S K Abilev, L E Salnikova
Pelvic organ prolapse (POP) represents a urologic and gynecological disease, the development of which is governed both by environmental and genetic factors. We describe the results of our association study of polymorphic variants of genes involved in the assembly of elastic fibrils, namely, the lysyl oxidase protein 1 (LOXL1) and fibulin-3 (FBLN3) genes. We revealed an association of the rs2304719-T allele and rs2165241 (C)-rs2304719(T)-rs893821(T) haplotype of the LOXL1 gene with an increased risk of POP development, as well as a weak association with the disease of the rs3791660-C allele and the rs3791679(T)- rs1367228(A)-rs3791660(C)-rs2033316(A) haplotype of the FBLN3 gene...
October 2015: Genetika
Ramakrishnan Gayathri, Karunakaran Coral, Ferdinamarie Sharmila, Sarangapani Sripriya, Krishnamoorthy Sripriya, Panday Manish, B Shantha, George Ronnie, Lingam Vijaya, Angayarkanni Narayanasamy
PURPOSE: Pseudoexfoliation (PXF) is a microfibrillopathy involving disordered elastogenesis. Abnormal extracellular matrix (ECM) production underlies the pathophysiology of PXF. The enzyme Lysyl oxidase (LOX) and its isoforms are known to cross-link the elastin and collagen. Though the etiopathogensis of PXF is not well understood, studies report on the genetic risk involving LOXL1 gene. This study aims to screen LOXL1 coding variants rs1048661 and rs3825942 in the South Indian population and the implication of the single nucleotide polymorphism (SNP) with LOX activity...
April 26, 2016: Current Eye Research
Benjamin Le Calvé, Audrey Griveau, David Vindrieux, Raphaël Maréchal, Clotilde Wiel, Magali Svrcek, Johann Gout, Lamia Azzi, Léa Payen, Jérôme Cros, Christelle de la Fouchardière, Pierre Dubus, Jérôme Guitton, Laurent Bartholin, Jean-Baptiste Bachet, David Bernard
Solid tumors often display chemotherapy resistance. Pancreatic ductal adenocarcinoma (PDAC) is the archetype of resistant tumors as current chemotherapies are inefficient. The tumor stroma and extracellular matrix (ECM) are key contributors to PDAC aggressiveness and to limiting the efficacy of chemotherapy. Lysyl oxidase (LOX) family members mediate collagen cross-linking and thus promote ECM stiffening. Our data demonstrate increased LOX, LOXL1, and LOXL2 expression in PDAC, and that the level of fibrillar collagen, which is directly dependent of LOX family activity, is an independent predictive biomarker of adjuvant "Gemcitabine-based chemotherapy" benefit...
May 31, 2016: Oncotarget
Fulya Yaylacioğlu Tuncay, Zeynep Aktaş, Mehmet Ali Ergün, Sezin Güntekin Ergün, Murat Hasanreisoğlu, Berati Hasanreisoğlu
No abstract text is available yet for this article.
March 30, 2016: Ophthalmic Genetics
Shiwani Sharma, Sarah Martin, Matthew J Sykes, Alpana Dave, Alex W Hewitt, Kathryn P Burdon, Maurizio Ronci, Nicolas H Voelcker, Jamie E Craig
Pseudoexfoliation (PEX) syndrome is a systemic disease involving the extracellular matrix. It increases the risk of glaucoma, an irreversible cause of blindness, and susceptibility to heart disease, stroke and hearing loss. Single nucleotide polymorphisms (SNPs) in the LOXL1 (Lysyl oxidase-like 1) gene are the major known genetic risk factor for PEX syndrome. Two coding SNPs, rs1048861 (G > T; Arg141Leu) and rs3825942 (G > A; Gly153Asp), in the LOXL1 gene are strongly associated with the disease risk in multiple populations worldwide...
May 2016: Experimental Eye Research
Alexios A Panoutsopoulos, Vassiliki S Gartaganis, Marios P Giannakopoulos, Panos D Goumas, Evangelos D Anastassiou, Sotirios P Gartaganis
PURPOSE: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome. PATIENTS AND METHODS: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction...
2016: Clinical Ophthalmology
Nathan Kow, Beri Ridgeway, Mei Kuang, Robert S Butler, Margot S Damaser
OBJECTIVES: This study aimed to compare cellular expression of lysyl oxidase-like 1 (LOXL1), a key enzyme in elastin metabolism, of premenopausal women with pelvic organ prolapse (POP) compared with premenopausal controls without POP and postmenopausal women with POP. In addition, we examined whether variation of LOXL1 expression was dependent on biopsy site. METHODS: A standardized protocol was utilized to obtain vaginal biopsies from 30 women (10 premenopausal POP, 10 postmenopausal POP, and 10 premenopausal non-POP)...
July 2016: Female Pelvic Medicine & Reconstructive Surgery
Hala Kufaishi, May Alarab, Harold Drutz, Stephen Lye, Oksana Shynlova
INTRODUCTION: Primary human vaginal cells derived from women with severe pelvic organ prolapse (POP-HVCs) demonstrate altered cellular characteristics as compared to cells derived from asymptomatic women (control-HVCs). Using computer-controllable Flexcell stretch unit, we examined whether POP-HVCs react differently to mechanical loading as compared to control-HVCs by the expression of extracellular matrix (ECM) components, cell-ECM adhesion proteins, and ECM degrading and maturating enzymes...
August 2016: Reproductive Sciences
Hala Kufaishi, May Alarab, Harold Drutz, Stephen Lye, Oksana Shynlova
BACKGROUND: This study tested a hypothesis that primary human vaginal cells derived from tissue of premenopausal women with severe pelvic organ prolapse (POP-HVCs) would display differential functional characteristics as compared to vaginal cells derived from asymptomatic women with normal pelvic floor support (control-HVCs). METHODS: Vaginal tissue biopsies were collected from premenopausal patients with POP (n = 8) and asymptomatic controls (n = 7) during vaginal hysterectomy or repair...
July 2016: Reproductive Sciences
Suzan Guven Yilmaz, Melis Palamar, Huseyin Onay, Orhan Ilim, Ayca Aykut, Feristah Ferda Ozkinay, Ayse Yagci
The purpose of this study is to evaluate whole lysyl oxidase like 1 (LOXL1) gene by sequence analysis in Turkish patients with exfoliation glaucoma (XFG). A total of 48 (35 male, 13 female) patients with XFG were enrolled. Besides routine ophthalmological examination, peripapillary retinal nerve fibre layer (RNFL) analysis with optic coherence tomography was performed. Blood samples of 2 ml with EDTA were obtained and sent to Medical Genetics Department, Molecular Genetics Laboratory for LOXL1 polymorphism (PCR and agarose gel imaging) analysis...
October 2016: International Ophthalmology
Berta Luzón-Toro, Marta Bleda, Elena Navarro, Luz García-Alonso, Macarena Ruiz-Ferrer, Ignacio Medina, Marta Martín-Sánchez, Cristina Y Gonzalez, Raquel M Fernández, Ana Torroglosa, Guillermo Antiñolo, Joaquin Dopazo, Salud Borrego
BACKGROUND: The molecular mechanisms leading to sporadic medullary thyroid carcinoma (sMTC) and juvenile papillary thyroid carcinoma (PTC), two rare tumours of the thyroid gland, remain poorly understood. Genetic studies on thyroid carcinomas have been conducted, although just a few loci have been systematically associated. Given the difficulties to obtain single-loci associations, this work expands its scope to the study of epistatic interactions that could help to understand the genetic architecture of complex diseases and explain new heritable components of genetic risk...
2015: BMC Medical Genomics
Maria K Tveitarås, Trude Skogstrand, Sabine Leh, Frank Helle, Bjarne M Iversen, Christos Chatziantoniou, Rolf K Reed, Michael Hultström
Matrix Metalloproteinase-2 (Mmp2) is a collagenase known to be important in the development of renal fibrosis. In unilateral ureteral obstruction (UUO) the obstructed kidney (OK) develops fibrosis, while the contralateral (CL) does not. In this study we investigated the effect of UUO on gene expression, fibrosis and pelvic remodeling in the kidneys of Mmp2 deficient mice (Mmp2-/-), heterozygous animals (Mmp2+/-) and wild-type mice (Mmp2+/+). Sham operated animals served as controls (Cntrl). UUO was prepared under isoflurane anaesthesia, and the animals were sacrificed after one week...
2015: PloS One
Louis R Pasquale, Terete Borrás, John H Fingert, Janey L Wiggs, Robert Ritch
PURPOSE: To summarize various topics and the cutting edge approaches to refine XFS pathogenesis that were discussed at the 21st annual Glaucoma Foundation Think Tank meeting in New York City, Sept. 19-20, 2014. METHODS: The highlights of three categories of talks on cutting edge research in the field were summarized. RESULTS: Exfoliation syndrome (XFS) is a systemic disorder with a substantial ocular burden, including high rates of cataract, cataract surgery complications, glaucoma and retinal vein occlusion...
September 2016: Acta Ophthalmologica
Loai Alsofi, Eileen Daley, Ian Hornstra, Elise F Morgan, Zachary D Mason, Jesus F Acevedo, R Ann Word, Louis C Gerstenfeld, Philip C Trackman
Lysyl oxidases are required for collagen and elastin cross-linking and extracellular matrix maturation including in bone. The lysyl oxidase family consists of lysyl oxidase (LOX) and 4 isoforms (LOXL1-4). Here we investigate whether deletion of LOXL1, which has been linked primarily to elastin maturation, leads to skeletal abnormalities. Left femurs (n = 8), L5 vertebrae (n = 8), and tibiae (n = 8) were analyzed by micro-computed tomography in 13-week-old wild-type (WT) and LOXL1-/- male and female mice. Right femurs (n = 8) were subjected to immunohistochemistry for LOXL1, and histochemical/histology analyses of osteoclasts and growth plates...
February 2016: Calcified Tissue International
Jingwen Du, Maxwell T Hincke, Megan Rose-Martel, Christelle Hennequet-Antier, Aurelien Brionne, Larry A Cogburn, Yves Nys, Joel Gautron
BACKGROUND: The avian eggshell membranes surround the egg white and provide a structural foundation for calcification of the eggshell which is essential for avian reproduction; moreover, it is also a natural biomaterial with many potential industrial and biomedical applications. Due to the insoluble and stable nature of the eggshell membrane fibres, their formation and protein constituents remain poorly characterized. The purpose of this study was to identify genes encoding eggshell membrane proteins, particularly those responsible for its structural features, by analyzing the transcriptome of the white isthmus segment of the oviduct, which is the specialized region responsible for the fabrication of the membrane fibres...
2015: BMC Genomics
Wen Zong, Yan Jiang, Jing Zhao, Jian Zhang, Jian-gang Gao
The lysyl oxidase (LOX) family encodes the copper-dependent amine oxidases that play a key role in determining the tensile strength and structural integrity of connective tissues by catalyzing the crosslinking of elastin or collagen. Estrogen may upregulate the expression of LOX and lysyl oxidase-like 1 (LOXL1) in the vagina. The objective of this study was to determine the effect of estrogen on the expression of all LOX family genes in the urogenital tissues of accelerated ovarian aging mice and human Ishikawa cells...
October 2015: Journal of Zhejiang University. Science. B
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