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ABCC6

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https://www.readbyqxmd.com/read/27826008/functional-rescue-of-abcc6-deficiency-by-4-phenylbutyrate-therapy-reduces-dystrophic-calcification-in-abcc6-mice
#1
Viola Pomozi, Christopher Brampton, Flóra Szeri, Dóra Dedinszki, Eszter Kozák, Koen van de Wetering, Hi'ilani Hopkins, Ludovic Martin, András Váradi, Olivier Le Saux
Soft tissue calcification is associated with aging, common conditions such as diabetes or hypercholesterolemia and with certain genetic disorders. ABCC6 is an efflux transporter primarily expressed in liver facilitating the release of ATP from hepatocytes. Within the liver vasculature, ATP is converted into pyrophosphate (PPi), a major inhibitor of ectopic calcification. ABCC6 mutations thus lead to reduced plasma PPi levels resulting in the calcification disorder pseudoxanthoma elasticum (PXE) and some cases of generalized arterial calcification of infancy (GACI)...
November 5, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27758107/untargeted-metabolomics-analysis-of-abcc6-deficient-mice-discloses-an-altered-metabolic-liver-profile
#2
Mie Rostved Rasmussen, Kirstine Lykke Nielsen, Mia Roest Laursen, Camilla Bak Nielsen, Pia Svendsen, Henrik Dimke, Erik Ilsø Christensen, Mogens Johannsen, Søren Kragh Moestrup
Loss-of-function mutations in the transmembrane ABCC6 transport protein cause pseudoxanthoma elasticum - an ectopic, metabolic mineralization disorder affecting the skin, eye and vessels. ABCC6 is assumed to mediate efflux of one or several small molecule compounds from the liver cytosol to the circulation. Untargeted metabolomics using liquid chromatography mass spectrometry was employed to inspect liver cytosolic extracts from mice with targeted disruption of the Abcc6 gene. Absence of the ABCC6 protein induced an altered profile of metabolites in the liver causing accumulation of compounds as more features were upregulated than downregulated in ABCC6-deficient mice...
October 19, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27721021/targeting-nf-%C3%AE%C2%BAb-rela-p65-phosphorylation-overcomes-rita-resistance
#3
Yiwen Bu, Guoshuai Cai, Yi Shen, Chenfei Huang, Xi Zeng, Yu Cao, Chuan Cai, Yuhong Wang, Dan Huang, Duan-Fang Liao, Deliang Cao
Inactivation of p53 occurs frequently in various cancers. RITA is a promising anticancer small molecule that dissociates p53-MDM2 interaction, reactivates p53 and induces exclusive apoptosis in cancer cells, but acquired RITA resistance remains a major drawback. This study found that the site-differential phosphorylation of nuclear factor-κB (NF-κB) RelA/p65 creates a barcode for RITA chemosensitivity in cancer cells. In naïve MCF7 and HCT116 cells where RITA triggered vast apoptosis, phosphorylation of RelA/p65 increased at Ser536, but decreased at Ser276 and Ser468; oppositely, in RITA-resistant cells, RelA/p65 phosphorylation decreased at Ser536, but increased at Ser276 and Ser468...
October 6, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27623860/approach-to-the-management-of-pregnancy-in-patients-with-pseudoxanthoma-elasticum-a-review
#4
Marta Camacho, Cristobal Rengel, Elisa López-Herrero, Juan L Carrillo, Agustín J Eslava, Pedro Valdivielso
Management of pregnancy in patients with rare diseases is often guided by incomplete knowledge because of a lack of high-quality case control studies or single-centre experience. Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central visual loss, and potential arterial insufficiency in most patients. It is due to mutations in ABCC6, which encodes the eponymous membrane transport protein...
September 13, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27622520/pseudoxanthoma-elasticum-also-a-lung-disease-the-respiratory-affection-of-patients-with-pseudoxanthoma-elasticum
#5
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS: In a cross-sectional study, 35 PXE patients and 15 healthy controls underwent a pulmonary function testing, including spirometry, body plethysmography and carbon monoxide diffusing test...
2016: PloS One
https://www.readbyqxmd.com/read/27617603/pseudoxanthoma-elasticum-report-of-a-case-with-a-novel-gene-mutation
#6
Nicole Meunier, Lisa Zaleski
Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Our patient had angioid streaks in her right eye, skin laxity of the bilateral dorsal hands, and yellow papules coalescing on the posterior neck...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27447569/etidronate-prevents-but-does-not-reverse-ectopic-mineralization-in-a-mouse-model-of-pseudoxanthoma-elasticum-abcc6
#7
Qiaoli Li, Joshua Kingman, John P Sundberg, Michael A Levine, Jouni Uitto
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization. Most cases of PXE and some cases of GACI are caused by mutations in the ABCC6 gene, resulting in reduced plasma pyrophosphate (PPi) levels. There is no effective treatment for these disorders. It has been suggested that administration of bisphosphonates, stable and non-hydrolyzable PPi analogs, could counteract ectopic mineralization in these disorders...
July 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27422265/genetic-susceptibility-to-bortezomib-induced-peripheral-neuroropathy-replication-of-the-reported-candidate-susceptibility-loci
#8
Chiara Campo, Miguel Inacio Da Silva Filho, Niels Weinhold, Hartmut Goldschmidt, Kari Hemminki, Maximilian Merz, Asta Försti
The introduction of proteasome inhibitors in the treatment of multiple myeloma (MM) patients has been a therapeutic success. Peripheral neuropathy (PNP) remains one of the most frequent side-effects experienced by patients who receive these novel agents. Recent investigations on the mechanisms of PNP in patients treated with bortezomib have suggested genetic susceptibility to neurotoxicity. We used data from a genome-wide association study conducted on 646 bortezomib-treated German MM patients to replicate the previously reported associations between single-nucleotide polymorphisms (SNPs) in candidate genes and PNP in MM patients, including 298 SNPs with a nominal significance (p value <0...
July 16, 2016: Neurochemical Research
https://www.readbyqxmd.com/read/27133371/-pseudoxanthoma-elasticum-a-rare-cause-of-gastrointestinal-bleeding-in-children
#9
A Dibi, E L El Fahime, N Mouane, R Dafiri, A Bentahila
INTRODUCTION: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding. CASE REPORTS: An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding...
June 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27066968/erratum-to-new-insights-into-the-roles-of-the-n-terminal-region-of-the-abcc6-transporter
#10
Rocchina Miglionico, Andrea Gerbino, Angela Ostuni, Maria Francesca Armentano, Magnus Monné, Monica Carmosino, Faustino Bisaccia
No abstract text is available yet for this article.
April 11, 2016: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/27021587/prognostic-value-of-gene-methylation-and-clinical-factors-in-non-muscle-invasive-upper-tract-urothelial-carcinoma-after-radical-nephroureterectomy
#11
Yunchao Xing, Gengyan Xiong, Dong Fang, Xinyu Yang, Xuesong Li, Liqun Zhou
INTRODUCTION: To systematically analyze the outcomes and prognostic value of gene methylation and clinical parameters in non-muscle-invasive upper tract urothelial carcinoma (NMIUTUC) after radical nephroureterectomy (RNU). PATIENTS AND METHODS: The methylation status of 10 selected genes and clinical parameters of 192 NMIUTUC patients who received RNU and postoperative intravesical mitomycin were assessed. Univariate and multivariate Cox regression models were performed to evaluate the prognostic factors of cancer-specific mortality and intravesical recurrence...
August 2016: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/26982014/generalized-arterial-calcification-in-a-recipient-twin-discordant-fetal-hemodynamics-result-in-differing-phenotypes-in-monozygotic-twins-with-an-abcc6-mutation
#12
Jodie K Votava-Smith, Pisit Pitukcheewanont, Linda M Randolph, Ramen H Chmait
Recipients of the twin-twin transfusion syndrome (TTTS) often develop cardiac manifestations, but arterial calcification has rarely been reported. Generalized arterial calcification of infancy (GACI) is a genetic disorder with high infantile mortality. We report the case of a TTTS recipient with moderate cardiomyopathy at diagnosis who developed progressive calcification of the pulmonary arteries and aorta after successful in utero laser therapy. Postnatally, both twins were diagnosed with a heterozygous ABCC6 gene mutation associated with GACI...
March 17, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/26942607/new-insights-into-the-roles-of-the-n-terminal-region-of-the-abcc6-transporter
#13
Rocchina Miglionico, Andrea Gerbino, Angela Ostuni, Maria Francesca Armentano, Magnus Monné, Monica Carmosino, Faustino Bisaccia
ABCC6 is a human ATP binding cassette (ABC) transporter of the plasma membrane associated with Pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic calcification of elastic fibers in dermal, ocular and vascular tissues. Similar to other ABC transporters, ABCC6 encloses the core structure of four domains: two transmembrane domains (TMDs) and two nucleotide binding domains (NBDs) but also an additional N-terminal extension, including a transmembrane domain (TMD0) and a cytosolic loop (L0), which is only found in some members of ABCC subfamily, and for which the function remains to be established...
June 2016: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/26820484/gene-expression-of-membrane-transporters-importance-for-prognosis-and-progression-of-ovarian-carcinoma
#14
Katerina Elsnerova, Beatrice Mohelnikova-Duchonova, Ela Cerovska, Marie Ehrlichova, Ivan Gut, Lukas Rob, Petr Skapa, Martin Hruda, Alena Bartakova, Jiri Bouda, Pavel Vodicka, Pavel Soucek, Radka Vaclavikova
Membrane transporters (such as ABCs, SLCs and ATPases) act in carcinogenesis and chemoresistance development, but their relevance for prognosis of epithelial ovarian cancer (EOC) remains poorly understood. We evaluated the gene expression profile of 39 ABC and 12 SLC transporters and three ATPases in EOC tissues and addressed their putative role in prognosis and clinical course of EOC patients. Relative gene expression in a set of primary EOC (n=57) and in control ovarian tissues (n=14) was estimated and compared with clinical data and survival of patients...
April 2016: Oncology Reports
https://www.readbyqxmd.com/read/26564082/pseudoxanthoma-elasticum
#15
REVIEW
E Steve Roach, Monica P Islam
Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. The deterioration of elastic fibers leads to characteristic yellowish papules and plaques (pseudoxanthomas) and retinal angioid streaks. Although these findings may begin in childhood, the diagnosis is typically not made until the second or third decade after the skin and retinal findings become more prominent. Cerebrovascular complications include brain infarction due to narrowing and occlusion of cerebral arteries and aneurysm formation...
2015: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/26459268/frequent-down-regulation-of-abc-transporter-genes-in-prostate-cancer
#16
Rita Demidenko, Deividas Razanauskas, Kristina Daniunaite, Juozas Rimantas Lazutka, Feliksas Jankevicius, Sonata Jarmalaite
BACKGROUND: ATP-binding cassette (ABC) transporters are transmembrane proteins responsible for the efflux of a wide variety of substrates, including steroid metabolites, through the cellular membranes. For better characterization of the role of ABC transporters in prostate cancer (PCa) development, the profile of ABC transporter gene expression was analyzed in PCa and noncancerous prostate tissues (NPT). METHODS: TaqMan Low Density Array (TLDA) human ABC transporter plates were used for the gene expression profiling in 10 PCa and 6 NPT specimens...
2015: BMC Cancer
https://www.readbyqxmd.com/read/26375467/cyclosporine-a-treatment-inhibits-abcc6-dependent-cardiac-necrosis-and-calcification-following-coxsackievirus-b3-infection-in-mice
#17
Jennifer Marton, Danica Albert, Sean A Wiltshire, Robin Park, Arthur Bergen, Salman Qureshi, Danielle Malo, Yan Burelle, Silvia M Vidal
Coxsackievirus type B3 (CVB3) is a cardiotropic enterovirus. Infection causes cardiomyocyte necrosis and myocardial inflammation. The damaged tissue that results is replaced with fibrotic or calcified tissue, which can lead to permanently altered cardiac function. The extent of pathogenesis among individuals exposed to CVB3 is dictated by a combination of host genetics, viral virulence, and the environment. Here, we aimed to identify genes that modulate cardiopathology following CVB3 infection. 129S1 mice infected with CVB3 developed increased cardiac pathology compared to 129X1 substrain mice despite no difference in viral burden...
2015: PloS One
https://www.readbyqxmd.com/read/26361562/pseudoxanthoma-elasticum-and-skin-clinical-manifestations-histopathology-pathomechanism-perspectives-of-treatment
#18
REVIEW
Barbara Marconi, Ivan Bobyr, Anna Campanati, Elisa Molinelli, Veronica Consales, Valerio Brisigotti, Marina Scarpelli, Stefano Racchini, Annamaria Offidani
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish papules or larger coalescent plaques, typically located on the neck and the flexural areas...
August 2015: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/26356190/the-abcc6-transporter-as-a-paradigm-for-networking-from-an-orphan-disease-to-complex-disorders
#19
REVIEW
Eva Y G De Vilder, Mohammad Jakir Hosen, Olivier M Vanakker
The knowledge on the genetic etiology of complex disorders largely results from the study of rare monogenic disorders. Often these common and rare diseases show phenotypic overlap, though monogenic diseases generally have a more extreme symptomatology. ABCC6, the gene responsible for pseudoxanthoma elasticum, an autosomal recessive ectopic mineralization disorder, can be considered a paradigm gene with relevance that reaches far beyond this enigmatic orphan disease. Indeed, common traits such as chronic kidney disease or cardiovascular disorders have been linked to the ABCC6 gene...
2015: BioMed Research International
https://www.readbyqxmd.com/read/26285774/comparative-gene-expression-profiling-of-cd133-and-cd133-d10-melanoma-cells
#20
Raheleh Roudi, Marzieh Ebrahimi, Mehrdad Nasrollahzadeh Sabet, Ali Najafi, Mohamad Reza Nourani, Motahareh Rajabi Fomeshi, Ali Samadikuchaksaraei, Ahmad Shariftabrizi, Zahra Madjd
AIMS: The present study aimed to compare the gene-expression profiling of CD133(+) and CD133(-) D10 cells. MATERIALS & METHODS: Cancer stem cell-like properties and gene-expression profiling of CD133(+) D10 cells versus CD133(-) cells were evaluated. RESULTS: The CD133(+) D10 cells showed significantly higher clonogenic and spheroid forming potential, also higher expression of stemness genes NANOG and OCT4A compared with the CD133(-) cells...
2015: Future Oncology
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