Abstract：
:The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis and nephrolithiasis are rare, they account for a significant disease burden with many patients developing chronic or end-stage renal disease. Identifying underlying genetic mutations in hereditary cases of nephrocalcinosis has provided valuable insights into renal tubulopathies that include hypercalciuria within their varied phenotypes. Genotypes affecting other enzyme pathways, including vitamin D metabolism and hepatic glyoxylate metabolism, are also associated with nephrocalcinosis. As the availability of genetic testing becomes widespread, we cannot be imprecise in our approach to nephrocalcinosis. Monogenic causes of nephrocalcinosis account for a broad range of phenotypes. In cases such as Dent disease, supportive therapies are limited, and early renal replacement therapies are necessitated. In cases such as renal tubular acidosis, a good renal prognosis can be expected providing effective treatment is implemented. It is imperative we adopt a precision-medicine approach to ensure patients and their families receive prompt diagnosis, effective, tailored treatment and accurate prognostic information.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Dickson FJ,Sayer JAdoi
10.3390/ijms21010369subject
Has Abstractpub_date
2020-01-06 00:00:00issue
1issn
1422-0067pii
ijms21010369journal_volume
21pub_type
杂志文章,评审abstract：:We characterized Schistosoma japonicum HSP40 (Sjp40) and HSP90α (Sjp90α) in this study. Western blot analysis revealed both are present in soluble egg antigens and egg secretory proteins, implicating them in triggering the host immune response after secretion from eggs into host tissues. These observations were confir...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21114034
更新日期：2020-06-04 00:00:00
abstract：: Mono-saturated polyprenols (dolichols) have been found in almost all Eukaryotic cells, however, dolichols containing additional saturated bonds at the ω-end, have been identified in A.fumigatus and A.niger. Here we confirm using an LC-ESI-QTOF-MS analysis, that poly-saturated dolichols are abundant in other fila...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20123043
更新日期：2019-06-21 00:00:00
abstract：:Epithelial ovarian cancer (EOC) is the leading cause of death among gynecological malignancies. Despite surgery and chemotherapy, 5-years survival rates have improved only modestly over the past few decades remaining at 45% for advanced stages. Therefore, novel therapies are urgently needed. The presence of tumor-infi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20122927
更新日期：2019-06-15 00:00:00
abstract：:Antibacterial peptides (APMs) are a new type of antibacterial substance. The relationship between their structure and function remains indistinct; in particular, there is a lack of a definitive and fixed template for designing new antimicrobial peptides. Previous studies have shown that porcine Protegrin-1 (PG-1) exhi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20163954
更新日期：2019-08-14 00:00:00
abstract：:Advances in the use of targeted and immune therapies have revolutionized the clinical management of melanoma patients, prolonging significantly their overall and progression-free survival. However, both targeted and immune therapies suffer limitations due to genetic mutations and epigenetic modifications, which determ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21124544
更新日期：2020-06-26 00:00:00
abstract：:Recent data show that cardiac hypertrophy contributes substantially to the overall heart failure burden. Mitochondrial dysfunction is a common feature of cardiac hypertrophy. Recent studies have reported that isosteviol inhibits myocardial ischemia-reperfusion injury in guinea pigs and H9c2 cells. This work investigat...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21020682
更新日期：2020-01-20 00:00:00
abstract：:Fine needle aspiration cytology (FNAC) represents the gold standard for determining the nature of thyroid nodules. It is a reliable method with good sensitivity and specificity. However, indeterminate lesions remain a diagnostic challenge and researchers have contributed molecular markers to search for in cytological ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18040775
更新日期：2017-04-06 00:00:00
abstract：:Melanopsin-containing retinal ganglion cells (mRGCs) represent a third class of retinal photoreceptors involved in regulating the pupillary light reflex and circadian photoentrainment, among other things. The functional integrity of the circadian system and melanopsin cells is an essential component of well-being and ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20133164
更新日期：2019-06-28 00:00:00
abstract：:Understanding the genetic basis of maize grain yield and other traits under low-nitrogen (N) stressed environments could improve selection efficiency. In this study, five doubled haploid (DH) populations were evaluated under optimum and N-stressed conditions, during the main rainy season and off-season in Kenya and Rw...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21020543
更新日期：2020-01-15 00:00:00
abstract：:Winter turnip rape (Brassica rapa L.) is a large-scale winter-only oil crop cultivated in Northwest China. However, its cold-resistant molecular mechanism remains inadequate. Studying the cold adaptation mechanisms of winter turnip rape based on the proteomic technique of isobaric tags for relative and absolute quanti...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19113346
更新日期：2018-10-26 00:00:00
abstract：:Heart disease in women remains underappreciated, underdiagnosed and undertreated. Further, although we are starting to understand some of the social and behavioral determinants for this, the biological basis for the increased rate of rise in atherosclerosis risk in women after menopause remains very poorly understand....
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17050760
更新日期：2016-05-18 00:00:00
abstract：:Serum amyloid A (SAA) promotes endothelial inflammation and dysfunction that is associated with cardiovascular disease and renal pathologies. SAA is an apoprotein for high-density lipoprotein (HDL) and its sequestration to HDL diminishes SAA bioactivity. Herein we investigated the effect of co-supplementing HDL on SAA...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21041316
更新日期：2020-02-15 00:00:00
abstract：:MnTE-2-PyP, a superoxide dismutase mimetic, inhibited OVA-induced airway inflammation in mice suggesting an effect on Th2 responsiveness. Thus, we hypothesized that MnTE-2-PyP may alter dendritic cell-Th2 interactions. Bone marrow derived dendritic cells (DC) and OVA(323-339)-specific Th2 cells were cultured separatel...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms13089785
更新日期：2012-01-01 00:00:00
abstract：:Idiosyncratic drug-induced liver injury (DILI) is an underreported and underestimated adverse drug reaction. Information on the documented hepatotoxicity of drugs has recently been made available by a website that can be accessed in the public domain: LiverTox (http://livertox.nlm.nih.gov). According to critical analy...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17020224
更新日期：2016-02-06 00:00:00
abstract：:A small gram-negative bacterium, Coxiella burnetii (C. burnetii), is responsible for a zoonosis called Q fever. C. burnetii is an intracellular bacterium that can survive inside microbicidal cells like monocytes and macrophages by hijacking several functions of the immune system. Among several virulence factors, the l...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18122509
更新日期：2017-11-23 00:00:00
abstract：:Mg and Mg alloys are becoming more and more of interest for several applications. In the case of biomaterial applications, a special interest exists due to the fact that a predictable degradation should be given. Various investigations were made to characterize and predict the corrosion behavior in vitro and in vivo. ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms150711456
更新日期：2014-06-26 00:00:00
abstract：:This study explored whether valproic acid (VPA, a histone deacetylase inhibitor) could radiosensitize osteosarcoma and primary-culture tumor cells, and determined the mechanism of VPA-induced radiosensitization. The working system included osteosarcoma cells (U2OS) and primary-culture cells from chemical carcinogen (D...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18051027
更新日期：2017-05-10 00:00:00
abstract：:Human cytomegalovirus (HCMV) is an opportunistic pathogen causing disease mainly in immunocompromised patients or after congenital infection. HCMV infection of the respiratory tract leads to pneumonitis in the immunocompromised host, which is often associated with a bad clinical course. The related mouse cytomegalovir...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20163865
更新日期：2019-08-08 00:00:00
abstract：:Ile-Ala-Val-Pro-Gly-Glu-Val-Ala (IAVPGEVA), Ile-Ala-Val-Pro-Thr-Gly-Val-Ala (IAVPTGVA) and Leu-Pro-Tyr-Pro (LPYP), three peptides deriving from soy glycinin hydrolysis, are known to regulate cholesterol metabolism in human hepatic HepG2 cells. We have recently demonstrated that the mechanism of action involves the act...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms161126029
更新日期：2015-11-16 00:00:00
abstract：:The recently emerged SARS-CoV-2 is the cause of the global health crisis of the coronavirus disease 2019 (COVID-19) pandemic. No evidence is yet available for CoV infection into hosts upon zoonotic disease outbreak, although the CoV epidemy resembles influenza viruses, which use sialic acid (SA). Currently, informatio...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21124549
更新日期：2020-06-26 00:00:00
abstract：:The terpolymerization of carbon dioxide (CO₂), propylene oxide (PO), and cyclohexene oxide (CHO) were performed by both random polymerization and block polymerization to synthesize the random poly (propylene cyclohexene carbonate) (PPCHC), di-block polymers of poly (propylene carbonate⁻cyclohexyl carbonate) (PPC-PCHC)...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19123723
更新日期：2018-11-23 00:00:00
abstract：:Ginsenoside Rd (GSRd), one of the main active monomer compounds from the medical plant Panax ginseng, has been shown to promote neuronal survival in models of ischemic cerebral damage. As an extending study, here we examined whether GSRd could exert a beneficial effect in an experimental Parkinson disease (PD) model i...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms160714395
更新日期：2015-06-24 00:00:00
abstract：:In this paper, we used a Genotyping-by-Sequencing (GBS) approach to find and genotype more than 4000 genome-wide SNPs (Single Nucleotide Polymorphisms) from striped killifish exposed to a variety of polychlorinated biphenyls (PCBs) and other aromatic pollutants in New Bedford Harbor (NBH, Massachusetts, USA). The aims...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20051129
更新日期：2019-03-05 00:00:00
abstract：:Bergamottin (BM, 1), a component of grapefruit juice, acts as an inhibitor of some isoforms of the cytochrome P450 (CYP) enzyme, particularly CYP3A4. Herein, a new bergamottin containing a nitroxide moiety (SL-bergamottin, SL-BM, 10) was synthesized; chemically characterized, evaluated as a potential inhibitor of the ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21020508
更新日期：2020-01-13 00:00:00
abstract：:Metastasis to the central nervous system remains difficult to treat, and such patients are faced with a dismal prognosis. The blood-brain barrier (BBB), despite being partially compromised within malignant lesions in the brain, still retains much of its barrier function and prevents most chemotherapeutic agents from e...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17091463
更新日期：2016-09-02 00:00:00
abstract：:Insulin-resistance is one of the main factors responsible for the onset and progression of Metabolic Syndrome (MetS). Among all polyphenols, the effects of flavonoids and their main food sources on insulin sensitivity have been widely evaluated in molecular and clinical studies. The aim of this review is to analyse th...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20092061
更新日期：2019-04-26 00:00:00
abstract：:In the elderly, whole-body health largely relies on healthy skeletal muscle, which controls body stability, locomotion, and metabolic homeostasis. Age-related skeletal muscle structural/functional deterioration is associated with a higher risk of severe comorbid conditions and poorer outcomes, demanding major socioeco...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21031010
更新日期：2020-02-04 00:00:00
abstract：:Winter's advent invokes physiological adjustments that permit temperate ectotherms to cope with stresses such as food shortage, water deprivation, hypoxia, and hypothermia. We used liquid chromatography (LC) in combination with tandem mass spectrometry (MS/MS) quantitative isobaric (iTRAQ™) peptide mapping to assess v...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms12128406
更新日期：2011-01-01 00:00:00
abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms. There is a consensus that FSHD is caused b...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21030729
更新日期：2020-01-22 00:00:00
abstract：:The recognition of a distinct fat depot, the dermal white adipose tissue (dWAT), points out the complexity of the interaction among skin resident cells: keratinocytes, dermal fibroblasts (DFs) and adipocytes in response to physiological (diet, age) and pathological (injury) stimulations. dWAT has been recognized as a ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21238955
更新日期：2020-11-25 00:00:00
