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ABCC6

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https://www.readbyqxmd.com/read/29722917/pathogenic-variants-in-the-abcc6-gene-are-associated-with-an-increased-risk-for-ischemic-stroke
#1
Eva Y G De Vilder, Stefanie Cardoen, Mohammad J Hosen, Olivier Le Saux, Julie De Zaeytijd, Bart P Leroy, Jacques De Reuck, Paul J Coucke, Anne De Paepe, Dimitri Hemelsoet, Olivier M Vanakker
Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a candidate risk factor for ischemic stroke because of the increased ischemic stroke incidence in the autosomal recessive disorder pseudoxanthoma elasticum, caused by biallelic pathogenic ABCC6 variants, the higher cardiovascular risk in heterozygous carriers and the established role of ABCC6 dysfunction in myocardial ischemia...
May 3, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29713628/the-effects-of-parenteral-k1-administration-in-pseudoxanthoma-elasticum-patients-versus-controls-a-pilot-study
#2
Juan Luis Carrillo-Linares, María Inmaculada García-Fernández, María José Morillo, Purificación Sánchez, José Rioja, Francisco Javier Barón, María José Ariza, Dominic J Harrington, David Card, Federica Boraldi, Daniela Quaglino, Pedro Valdivielso
Introduction: Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim was to investigate, in patients affected by PXE, baseline levels of vitamin K1 -dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. Methods: We included eight PXE patients with typical clinical symptoms (skin, retina, and vascular calcification) and two ABCC6 causative mutations; 13 clinically unaffected first-degree patients' relatives (9 carrying one ABCC6 mutation and 4 non-carriers)...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29709427/abcc6-mutations-and-early-onset-stroke-two-cases-of-a-typical-pseudoxanthoma-elasticum
#3
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora, Carlo Gandolfo, Silvia Pederzoli, Clara Malattia, Paolo Picco, Pasquale Striano, Isabella Ceccherini, Maja Di Rocco
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29706459/detection-of-urothelial-carcinoma-upper-tract-urothelial-carcinoma-bladder-carcinoma-and-urothelial-carcinoma-with-gross-hematuria-using-selected-urine-dna-methylation-biomarkers-a-prospective-single-center-study
#4
Run-Qi Guo, Geng-Yan Xiong, Kai-Wei Yang, Lei Zhang, Shi-Ming He, Yan-Qing Gong, Qun He, Xue-Ying Li, Zi-Cheng Wang, Zhen-Qing Bao, Xue-Song Li, Kai Zhang, Li-Qun Zhou
INTRODUCTION: Hematuria is the most common symptom of urothelial carcinomas (UC) but is often idiopathic. Cystoscopy is expensive which involves considerable patient discomfort, and conventional urine cytology for noninvasive UC detection and disease monitoring suffers from poor sensitivity. We aim to evaluate the performance of genes selected from a previous study in detecting UC, especially among patients with gross hematuria, as well as upper tract urothelial carcinoma (UTUC) and bladder carcinoma separately, in voided urine samples...
April 26, 2018: Urologic Oncology
https://www.readbyqxmd.com/read/29662086/persistence-of-the-abcc6-genes-and-the-emergence-of-the-bony-skeleton-in-vertebrates
#5
Bruna Parreira, João C R Cardoso, Rita Costa, Ana Rita Couto, Jácome Bruges-Armas, Deborah M Power
The ATP-binding cassette transporter 6 (ABCC6) gene encodes a cellular transmembrane protein transporter (MRP6) that is involved in the regulation of tissue calcification in mammals. Mutations in ABCC6 are associated with human ectopic calcification disorders. To gain insight into its evolution and involvement in tissue calcification we conducted a comparative analysis of the ABCC6 gene and the related gene ABCC1 from invertebrates to vertebrates where a bony endoskeleton first evolved. Taking into consideration the role of ABCC6 in ectopic calcification of human skin we analysed the involvement of both genes in the regeneration of scales, mineralized structures that develop in fish skin...
April 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29643466/etidronate-prevents-dystrophic-cardiac-calcification-by-inhibiting-macrophage-aggregation
#6
Carolin Bauer, Olivier le Saux, Viola Pomozi, Redouane Aherrahrou, Rene Kriesen, Stephanie Stölting, Annett Liebers, Thorsten Kessler, Heribert Schunkert, Jeanette Erdmann, Zouhair Aherrahrou
Cardiovascular calcification is associated with high risk of vascular disease. This involves macrophage infiltration of injured vascular tissue and osteoclast-related processes. Splenic monocytes from mice, that are predisposed (C3H) or resistant (B6) to calcification, were isolated and differentiated in vitro with M-CSF to generate macrophages, which aggregate to form multinucleated (MN) cells in the presence of RANKL. MN cell formation was significantly decreased in monocytes from resistant compared with calcifying mice...
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29588463/combining-targeted-panel-based-resequencing-and-copy-number-variation-analysis-for-the-diagnosis-of-inherited-syndromic-retinopathies-and-associated-ciliopathies
#7
Iker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. The heterogeneity of these conditions makes molecular and clinical characterization of patients challenging in daily clinical practice. We explored the capacity of targeted resequencing and copy-number variation analysis to improve diagnosis of a heterogeneous cohort of 47 patients mainly comprising atypical cases that did not clearly fit a specific clinical diagnosis...
March 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29587736/comparison-of-clinicopathologic-characteristics-epigenetic-biomarkers-and-prognosis-between-renal-pelvic-and-ureteral-tumors-in-upper-tract-urothelial-carcinoma
#8
Dong Fang, Shiming He, Gengyan Xiong, Nirmish Singla, Zhenpeng Cao, Lei Zhang, Xuesong Li, Liqun Zhou
BACKGROUND: There's no consensus about the difference between renal pelvic and ureteral tumors in terms of clinical features, pathological outcomes, epigenetic biomarkers and prognosis. METHODS: The data of 341 patients with renal pelvic tumors and 271 patients with ureteral tumors who underwent radical nephroureterectomy between 1999 and 2011 were retrospectively reviewed. The clinicopathologic features, gene promoters methylation status and oncologic outcomes were compared...
March 27, 2018: BMC Urology
https://www.readbyqxmd.com/read/29552442/carotid-strain-measurement-in-patients-with-pseudoxanthoma-elasticum-hint-for-a-different-pathomechanism
#9
Sebastian Gorgonius Passon, Viviane Küllmar, Anna Katharina Blatzheim, Kristin Solveig Pausewang, Max Jonathan Stumpf, Doris Hendig, Martin Gliem, Simon Pingel, Robert Schueler, Dirk Skowasch, Najib Schahab, Georg Nickenig, Christian Alexander Schaefer
Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29524272/segregation-analysis-revealed-hemizygotic-causative-mutations-in-a-pseudoxanthoma-elasticum-patient
#10
LETTER
G Perazzolli, G Girolomoni, C Colato, D Quaglino
No abstract text is available yet for this article.
March 10, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29501384/alteration-of-extracellular-nucleotide-metabolism-in-pseudoxanthoma-elasticum
#11
Gilles Kauffenstein, Gennady G Yegutkin, Salim Khiati, Viola Pomozi, Olivier Le Saux, Georges Leftheriotis, Guy Lenaers, Daniel Henrion, Ludovic Martin
Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill defined. ABCC6 expression has recently been associated with cellular nucleotide export. We studied the impact of ABCC6 deficiency on blood levels of adenosine triphosphate and related metabolites and on soluble nucleotidase activities in PXE patients and Abcc6-/- mice...
March 6, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29480367/subretinal-fibrosis-is-associated-with-fundus-pulverulentus-in-pseudoxanthoma-elasticum
#12
J M Ebran, L Martin, Leftheriotis, N Navasiolava, M Ferre, D Milea, S Leruez
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients...
April 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29385210/abcc6-plays-a-significant-role-in-the-transport-of-nilotinib-and-dasatinib-and-contributes-to-tki-resistance-in-vitro-in-both-cell-lines-and-primary-patient-mononuclear-cells
#13
Laura N Eadie, Phuong Dang, Jarrad M Goyne, Timothy P Hughes, Deborah L White
ATP Binding Cassette family efflux proteins ABCB1 and ABCG2 have previously been demonstrated to interact with Tyrosine Kinase Inhibitors (TKIs); however, evidence for the interaction of other potentially relevant drug transporters with TKIs is lacking. Through Taqman transporter array technology we assessed the impact of nilotinib on mRNA expression of ABC transporters, with ABCC6 identified as a transporter of interest. Additionally, increased expression of ABCC6 mRNA was observed during in vitro development of nilotinib resistance in BCR-ABL1-expressing cell lines...
2018: PloS One
https://www.readbyqxmd.com/read/29222397/indoxyl-sulfate-upregulates-liver-p-glycoprotein-expression-and-activity-through-aryl-hydrocarbon-receptor-signaling
#14
Tacy Santana Machado, Stéphane Poitevin, Pascale Paul, Nathalie McKay, Noémie Jourde-Chiche, Tristan Legris, Annick Mouly-Bandini, Françoise Dignat-George, Philippe Brunet, Rosalinde Masereeuw, Stéphane Burtey, Claire Cerini
In patients with CKD, not only renal but also, nonrenal clearance of drugs is altered. Uremic toxins could modify the expression and/or activity of drug transporters in the liver. We tested whether the uremic toxin indoxyl sulfate (IS), an endogenous ligand of the transcription factor aryl hydrocarbon receptor, could change the expression of the following liver transporters involved in drug clearance: SLC10A1 , SLC22A1 , SLC22A7 , SLC47A1 , SLCO1B1 , SLCO1B3 , SLCO2B1 , ABCB1 , ABCB11 , ABCC2 , ABCC3 , ABCC4 , ABCC6 , and ABCG2 We showed that IS increases the expression and activity of the efflux transporter P-glycoprotein (P-gp) encoded by ABCB1 in human hepatoma cells (HepG2) without modifying the expression of the other transporters...
March 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29203039/-vascular-calcification-in-pseudoxanthoma-elasticum-in-children
#15
A Dibi, N Mouane, E El Fahime, R Dafiri, A Bentahila
INTRODUCTION: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. OBSERVATIONS: These 4 children were 2-11 years old and presented variable clinical features. Vascular involvement and arterial hypertension was observed in all patients, skin involvement in 2 cases, gastrointestinal involvement in 2 cases, neurological impairment in one case, and cardiac involvement in one case...
December 2017: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29036915/stat3-but-not-hif-1%C3%AE-is-important-in-mediating-hypoxia-induced-chemoresistance-in-mda-mb-231-a-triple-negative-breast-cancer-cell-line
#16
Hoda Soleymani Abyaneh, Nidhi Gupta, Aneta Radziwon-Balicka, Paul Jurasz, John Seubert, Raymond Lai, Afsaneh Lavasanifar
Hypoxia-induced chemoresistance (HICR) is a well-recognized phenomenon, and in many experimental models, hypoxia inducible factor-1α (HIF-1α) is believed to be a key player. We aimed to better understand the mechanism underlying HICR in a triple negative breast cancer cell line, MDA-MB-231, with a focus on the role of HIF-1α. In this context, the effect of hypoxia on the sensitivity of MDA-MB-231 cells to cisplatin and their stem-like features was evaluated and the role of HIF-1α in both phenomena was assessed...
October 14, 2017: Cancers
https://www.readbyqxmd.com/read/29024031/first-genetic-analysis-of-atypical-phenotype-of-pseudoxanthoma-elasticum-with-ocular-manifestations-in-the-absence-of-characteristic-skin-lesions
#17
Takeshi Fukumoto, Akira Iwanaga, Atsushi Fukunaga, Mari Wataya-Kaneda, Yuta Koike, Chikako Nishigori, Atsushi Utani
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease, characterized by mineralization and degeneration of the elastic fibers in the skin, retina, and cardiovascular system.(1-4) PXE is caused by mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, but it remains unknown how these mutations lead to the clinical phenotype.(2-4) Although an association between mutations and phenotypes has been postulated, no definite correlation has been established.(5) Patients with PXE usually exhibit typical skin lesions that are frequently the first diagnostic signs...
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28912966/abcc6-gene-analysis-in-20-japanese-patients-with-angioid-streaks-revealing-four-frequent-and-two-novel-variants-and-pseudodominant-inheritance
#18
Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi
PURPOSE: To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). PATIENTS AND METHODS: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. RESULTS: Eight ABCC6 variants were identified as candidate disease-causing variants...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28891970/the-abcc6-transporter-a-new-player-in-biomineralization
#19
REVIEW
Guillaume Favre, Audrey Laurain, Tamas Aranyi, Flora Szeri, Krisztina Fulop, Olivier Le Saux, Christophe Duranton, Gilles Kauffenstein, Ludovic Martin, Georges Lefthériotis
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive...
September 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28882457/characterization-of-dermal-myofibroblast-differentiation-in-pseudoxanthoma-elasticum
#20
Isabel Faust, Elfi Donhauser, Bastian Fischer, Bettina Ibold, Joachim Kuhn, Cornelius Knabbe, Doris Hendig
Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder which is caused by ABCC6 (ATP-binding cassette subfamily C member 6) gene mutations. Characteristic hallmarks of PXE are progressive calcification and degradation of the elastic fibers in skin, cardiovascular system and ocular fundus. Since the underlying pathomechanisms of PXE remain unidentified, the aim of this study was to get new insights into PXE pathophysiology by characterizing dermal myofibroblast differentiation. Fibroblasts are the key cells of extracellular matrix (ECM) remodeling and, therefore, participate not only in physiological processes, such as calcification or wound healing, but also in pathologic events, such as fibrotization...
November 15, 2017: Experimental Cell Research
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