Abstract:
: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. While during the last decade the awareness of the wide ramifications of ABCC6 has increased significantly, the gene itself and the transmembrane transporter it encodes have not unveiled all of the mysteries that surround them. To gain more insights, multiple approaches are being used including next-generation sequencing, computational methods, and various "omics" technologies. Much effort is made to place the vast amount of data that is gathered in an integrated system-biological network; the involvement of ABCC6 in common disorders provides a good view on the wide implications and potential of such a network. In this review, we summarize the network approaches used to study ABCC6 and the role of this gene in several complex diseases.
journal_name
Biomed Res Intjournal_title
BioMed research internationalauthors
De Vilder EY,Hosen MJ,Vanakker OMdoi
10.1155/2015/648569subject
Has Abstractpub_date
2015-01-01 00:00:00pages
648569eissn
2314-6133issn
2314-6141journal_volume
2015pub_type
杂志文章,评审abstract::Tobacco smoking continues to be a leading cause of disease and mortality. Recent research has confirmed the important role of nicotinic acetylcholine receptor (nAChR) gene cluster on chromosome 15q 24-25 in nicotine dependence and smoking. In this study we tested the association of smoking initiation, age at onset of ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/350348
更新日期:2015-01-01 00:00:00
abstract::A series of halo-substituted mixed ester/amide-based analogues 4a-l have been prepared as jack bean urease inhibitor, which showed good to excellent inhibition of enzyme activity. The role of halo-substituted benzoyl moieties and alkyl substituted anilines in urease inhibitory kinetics was also investigated. The alkyl...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/8867407
更新日期:2020-12-24 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/3714329
更新日期:2018-06-06 00:00:00
abstract:Background and Aims:Concordance between transient elastography (TE) and ultrasonography (US) in assessing liver fibrosis in patients with chronic hepatitis B (CHB) and concurrent nonalcoholic fatty liver disease (NAFLD) has been rarely studied. This study aimed to evaluate the individual and combined performances of TE...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2019/3951574
更新日期:2019-01-23 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/6507350
更新日期:2016-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/6352858
更新日期:2017-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/4309161
更新日期:2020-01-11 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/535097
更新日期:2015-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/8759459
更新日期:2018-12-03 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/8182416
更新日期:2016-01-01 00:00:00
abstract::Remote organ impairments are frequent and increase patient morbidity and mortality after lower limb ischemia-reperfusion (IR). We challenged the hypothesis that lower limb IR might also impair lung, renal, and liver mitochondrial respiration. Two-hour tourniquet-induced ischemia was performed on both hindlimbs, follow...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/392390
更新日期:2014-01-01 00:00:00
abstract:Result:In the denture wearers, HHV8 DNA was detected in 11 cases. Two of the controls amplified HHV8 DNA. Fisher's exact test demonstrates a significant difference between virus infection and using removable dentures (p = 0.015). Conclusion:Our findings suggested that HHV8 detection could be associated with use of den...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/9358947
更新日期:2020-04-15 00:00:00
abstract:Background:Methadone Maintenance Treatment (MMT) program's success depends on the likelihood of reducing drop-out rate and keeping patients remaining in the program. There have been neither comprehensive studies about variation among patients who have been experiencing MMT for long period nor prediction of MMT period i...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/9081968
更新日期:2018-08-07 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2013/903947
更新日期:2013-01-01 00:00:00
abstract::Caudal epidural block is a commonly used technique for surgical anesthesia in children and chronic pain management in adults. It is performed by inserting a needle through the sacral hiatus to gain entrance into the sacral epidural space. Using conventional blind technique, the failure rate of caudal epidural block in...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2017/9217145
更新日期:2017-01-01 00:00:00
abstract::A prospective nonrandomized controlled study was conducted to explore the association between ocular dominance and degree of myopia in patients with anisometropia and to investigate the character of visual evoked potential (VEP) in high anisometropias. 1771 young myopia cases including 790 anisometropias were recruite...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/5064892
更新日期:2016-01-01 00:00:00
abstract::Smoldering multiple myeloma (SMM) is an asymptomatic precursor stage of multiple myeloma (MM) characterized by clonal bone marrow plasma cells (BMPC) ≥ 10% and/or M protein level ≥ 30 g/L in the absence of end organ damage. It represents an intermediate stage between monoclonal gammopathy of undetermined significance ...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2015/623254
更新日期:2015-01-01 00:00:00
abstract:Purpose:The aim of this study is to evaluate the effectiveness of laboratory serum tests in the diagnosis of infected nonunion. Methods:Forty-two patients suspected of having infected nonunion were investigated in the study. The serum levels of white blood-cell count (WBC), C-reactive protein (CRP), erythrocyte sedime...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/9146317
更新日期:2017-01-01 00:00:00
abstract::Ayurvedic and traditional medical practitioners of Sri Lanka use the decoction of the immature inflorescence of Cocos nucifera L. (IC) variety aurantiaca for the treatment of menorrhagia. The progestogenic effect of the ethyl acetate soluble proanthocyanidins (EASPA) of the IC in female rats at a dose of 3.5 mg/kg bod...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2019/8428304
更新日期:2019-12-03 00:00:00
abstract::Subarachnoid hemorrhage (SAH) is a devastating neurological disorder. Patients with aneurysmal SAH develop secondary complications that are important causes of morbidity and mortality. Aside from secondary neurological injuries, SAH has been associated with nonneurologic medical complications, such as neurocardiogenic...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/858496
更新日期:2014-01-01 00:00:00
abstract:Background:It is unclear whether computer navigation can improve the accuracy and reliability of targeted lower limb alignment correction following open-wedge high tibial osteotomy (HTO). This meta-analysis was designed to compare the accuracy and reliability of limb alignment correction between computer navigated and ...
journal_title:BioMed research international
pub_type: 杂志文章,meta分析
doi:10.1155/2017/3803457
更新日期:2017-01-01 00:00:00
abstract::Objective. Our objective is to develop a computerized scheme for liver tumor segmentation in MR images. Materials and Methods. Our proposed scheme consists of four main stages. Firstly, the region of interest (ROI) image which contains the liver tumor region in the T1-weighted MR image series was extracted by using se...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/3219068
更新日期:2016-01-01 00:00:00
abstract::Astrocytic impairment is a pathologic feature of neuromyelitis optica spectrum disorder (NMOSD). S100B and glial fibrillary acidic protein (GFAP) are the two most commonly used astrocytic markers. The aim of this study was to evaluate whether CSF-S100B could serve as a marker of NMOSD. We enrolled 49 NMOSD patients [2...
journal_title:BioMed research international
pub_type: 临床试验,杂志文章
doi:10.1155/2018/5381239
更新日期:2018-10-22 00:00:00
abstract::MicroRNAs orchestrate the expression of the genome and impact many, if not all, cellular processes. Their deregulation is thus often causative of human malignancies, including cancers. Numerous studies have implicated microRNAs in the different steps of tumorigenesis including initiation, progression, metastasis, and ...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/642916
更新日期:2014-01-01 00:00:00
abstract:Background:Ischemic heart disease (IHD) is the major cause of death in patients with cardiovascular disease. Cardiac remodeling is a common pathological change following myocardial infarction (MI), and cardiomyocyte apoptosis plays a key role in this change. Transcription factor recombination signal-binding protein-J (...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/5207031
更新日期:2018-07-03 00:00:00
abstract:PURPOSE:To distinguish between normal (SV-HUC-1) and cancerous (TCCSUP) human urothelial cell lines using microelectrical impedance spectroscopy (μEIS). MATERIALS AND METHODS:Two types of μEIS devices were designed and used in combination to measure the impedance of SV-HUC-1 and TCCSUP cells flowing through the channe...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/8748023
更新日期:2016-01-01 00:00:00
abstract::Autophagy is involved in the development of numerous illnesses, including ischemia/reperfusion (I/R). Endothelial nitric oxide synthase (eNOS) participates in the protective effects of ischemic postconditioning (IPostC). However, it remains unclear whether eNOS-mediated autophagy serves as a critical role in IPostC in...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2019/5201014
更新日期:2019-02-10 00:00:00
abstract::Cumulative evidence has indicated that there is an important role for adult hippocampal neurogenesis in cognitive function. With the increasing prevalence of cognitive decline associated with neurodegenerative diseases among the ageing population, physical exercise, a potent enhancer of adult hippocampal neurogenesis,...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/403120
更新日期:2014-01-01 00:00:00
abstract::Diarrhea is a major clinical problem affecting foals up to 3 months of age. The aim of this study was to identify enteric microorganisms involved in monoinfections and coinfections and the associated virulence factors in healthy and diarrheic foals. Diarrheic (D) (n = 56) and nondiarrheic (ND) foals (n = 60) up to thr...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/1512690
更新日期:2016-01-01 00:00:00
abstract::Lung cancer is the leading cause of cancer death worldwide. Adenocarcinoma, the most commonly diagnosed histologic type of lung cancer, is associated with smoking. Cigarette smoke promotes inflammation on the airways, which might be mediated by Th17 cells. This inflammatory environment may contribute to tumor developm...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/430943
更新日期:2015-01-01 00:00:00