Abstract：
:Alzheimer's disease (AD), Parkinson's disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), and prion diseases have a certain degree of clinical, pathological, and molecular overlapping. Previous studies revealed that many causative mutations in AD, PD, and FTD/ALS genes could be found in clinical familial and sporadic AD. To further elucidate the missing heritability in early-onset Alzheimer's disease (EOAD), we genetically characterized a Thai EOAD cohort by Next-Generation Sequencing (NGS) with a high depth of coverage, capturing variants in 50 previously recognized AD and other related disorders' genes. A novel mutation, APP p.V604M, and the known causative variant, PSEN1 p.E184G, were found in two of the familiar cases. Remarkably, among 61 missense variants were additionally discovered from 21 genes out of 50 genes, six potential mutations including MAPT P513A, LRRK2 p.R1628P, TREM2 p.L211P, and CSF1R (p.P54Q and pL536V) may be considered to be probably/possibly pathogenic and risk factors for other dementia leading to neuronal degeneration. All allele frequencies of the identified missense mutations were compared to 622 control individuals. Our study provides initial evidence that AD and other neurodegenerative diseases may represent shades of the same disease spectrum, and consideration should be given to offer exactly embracing genetic testing to patients diagnosed with EOAD. Our results need to be further confirmed with a larger cohort from this area.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Giau VV,Senanarong V,Bagyinszky E,An SSA,Kim Sdoi
10.3390/ijms20061514subject
Has Abstractpub_date
2019-03-26 00:00:00issue
6issn
1422-0067pii
ijms20061514journal_volume
20pub_type
杂志文章abstract：:Severe hypogylcemia has been found to induce cerebral damage. While a number of illnesses can lead to hypoglycemic episodes, antidiabetic medications prescribed for glycemic control are a common cause. Considering the rising prevalence of diabetes mellitus in the population, we investigated neuroprotective strategies ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20030550
更新日期：2019-01-28 00:00:00
abstract：:Epidermal growth factor receptor (EGFR) and the mutant EGFRvIII are major focal points in current concepts of targeted cancer therapy for glioblastoma multiforme (GBM), the most malignant primary brain tumor. The receptors participate in the key processes of tumor cell invasion and tumor-related angiogenesis and their...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18061295
更新日期：2017-06-18 00:00:00
abstract：:CDK5RAP3 was regarded as the most significant regulator of cellular responses against heat stress, which is associated with dysfunctions of the immune system and animal susceptibility to disease. Despite this, little known about how CDK5RAP3 regulates heat stress response. In this study, CDK5RAP3 conditional Knockout ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21218400
更新日期：2020-11-09 00:00:00
abstract：:The aim of this study was to assess the effect of naringenin on osteoclastogenesis and titanium particle-induced osteolysis. Osteolysis from wear-induced particles and aseptic loosening are the most frequent late complications of total joint arthroplasty leading to revision of the prosthesis. Osteolysis during aseptic...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms151221913
更新日期：2014-11-28 00:00:00
abstract：:Adhesion molecules are known to play an important role in endothelial activation and angiogenesis. Here we determined the functional role of IQGAP1 in the regulation of endothelial adherens junctions. VE-cadherin is found to be associated with actin filaments and thus stable, but IQGAP1 at intercellular junctions is n...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms140713377
更新日期：2013-06-27 00:00:00
abstract：:Aurora kinases have emerged as attractive targets for the design of anticancer drugs. 3D-QSAR (comparative molecular field analysis (CoMFA) and comparative molecular similarity indices analysis (CoMSIA)) and Surflex-docking studies were performed on a series of pyrrole-indoline-2-ones as Aurora A inhibitors. The CoMFA...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms12031605
更新日期：2011-01-01 00:00:00
abstract：:Human leukocyte antigen (HLA) class I ligands and Killer immunoglobulin-like receptors (KIRs) regulate the cytolytic activity of natural killer (NK) cells and certain T cells. We examined their genetic predisposition to disease susceptibility and clinical phenotypes in Taiwanese ankylosing spondylitis (AS) patients. K...
journal_title：International journal of molecular sciences
pub_type： 临床试验,杂志文章
doi：10.3390/ijms18081775
更新日期：2017-08-16 00:00:00
abstract：:The application of nanotechnology for the treatment of cancer is mostly based on early tumor detection and diagnosis by nanodevices capable of selective targeting and delivery of chemotherapeutic drugs to the specific tumor site. Due to the remarkable properties of gold nanoparticles, they have long been considered as...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms19071979
更新日期：2018-07-06 00:00:00
abstract：:Nanoencapsulation of thiamine dilauryl sulfate (TDS), a vitamin B1 derivative, was proved to effectively inhibit the spore germination of Fusarium oxysporum f. sp. raphani (F. oxysporum), as well as mycelial growth. The average diameter of nanoparticles was measured as 136 nm by being encapsulated with an edible encap...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms14024283
更新日期：2013-02-21 00:00:00
abstract：:Being master regulators of gene expression, transcription factors (TFs) play important roles in determining plant growth, development and reproduction. To date, many TFs have been shown to positively mediate plant responses to environmental stresses. In the current study, the biological functions of a stress-responsiv...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21010286
更新日期：2019-12-31 00:00:00
abstract：:The first compound that inhibited the mammalian target of rapamycin (mTOR), sirolimus (rapamycin) was discovered in the 1970s as a soil bacterium metabolite collected on Easter Island (Rapa Nui). Because sirolimus showed antiproliferative activity, researchers investigated its molecular target and identified the TOR1 ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17060975
更新日期：2016-06-21 00:00:00
abstract：:This study was aimed to clarify the effect of honokiol (Hon) on the activity of Cytochrome P450 (CYP450) enzymes, and the level of mRNA expression of liver and kidney transporters in type 2 diabetic rats induced by high-fat diet and strepotozotocin. Rats were randomly divided into normal control (NC) group, diabetic c...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19030815
更新日期：2018-03-12 00:00:00
abstract：:The gut microbiome plays an important role in obesity and Type 2 diabetes (T2D); however, it remains unclear whether the gut microbiome could clarify the dietary versus genetic origin of these ailments. Moreover, studies examining the gut microbiome in diet- versus genetically induced obesity/T2D in the same experimen...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21103434
更新日期：2020-05-13 00:00:00
abstract：:The in vitro maturation of oocytes is frequently used as an assisted reproductive technique (ART), and has been successfully established in humans and rodents. To overcome the limitations of ART, novel procedures for the in vitro maturation of early follicles are emerging. During the follicle isolation procedure, the ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20051133
更新日期：2019-03-06 00:00:00
abstract：:The growth arrest-specific transcript 5 (GAS5) is a >200-nt lncRNA molecule that regulates several cellular functions, including proliferation, apoptosis, invasion and metastasis, across different types of human cancers. Here, we reviewed the current literature on the expression of GAS5 in leukemia, cervical, breast, ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21207633
更新日期：2020-10-15 00:00:00
abstract：:(-)-Epigallocatechin gallate (EGCG) and curcumin are two naturally derived agents that have been widely investigated worldwide. They exhibit their anti-tumor effects in many types of cancers. In the current study, the effect of the combination of the two agents on non-small cell lung cancer (NSCLC) cells was investiga...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms140612023
更新日期：2013-06-05 00:00:00
abstract：:Diabetic nephropathy (DN) is the leading cause of end-stage renal disease in diabetes mellitus. Oxidative stress, insulin resistance and pro-inflammatory cytokines have been shown to play an important role in pathogeneses of renal damage on type 2 diabetes mellitus (DM). Inonotus obliquus (IO) is a white rot fungus th...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17091535
更新日期：2016-09-13 00:00:00
abstract：:Translocator protein 18 kDa (TSPO) is a high affinity cholesterol- and drug-binding protein highly expressed in steroidogenic cells, such as Leydig cells, where it plays a role in cholesterol mitochondrial transport. We have previously shown that TSPO is expressed in postnatal day 3 rat gonocytes, precursors of sperma...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17091486
更新日期：2016-09-06 00:00:00
abstract：:Photodynamic therapy is a procedure that can provide a selective eradication of neoplastic disease if sufficient drug, light, and oxygen are available. As this description suggests, it involves the photosensitization of malignant tissues to irradiation with photons in the visible range. While not suitable for tumors a...
journal_title：International journal of molecular sciences
pub_type： 历史文章,杂志文章
doi：10.3390/ijms160715188
更新日期：2015-07-03 00:00:00
abstract：:Herbivore-induced plant volatiles (HIPVs) play important ecological roles in defense against stresses. In contrast to model plants, reports on HIPV formation and function in crops are limited. Tea (Camellia sinensis) is an important crop in China. α-Farnesene is a common HIPV produced in tea plants in response to diff...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20174151
更新日期：2019-08-25 00:00:00
abstract：:Antioxidant capacity (AOC) against peroxyl radical and 2,2'-azino-bis-(3-ethylbenzothiazoline-6-sulphonic acid) diammonium salt (ABTS) radical cation was measured for a series of p-hydroxybenzoic (HB) and p-hydroxycinnamic (HC) acids at different pH. Quantum-chemical computation was performed using Gaussian 3.0 softwa...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms150916351
更新日期：2014-09-16 00:00:00
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journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20174318
更新日期：2019-09-03 00:00:00
abstract：:The Wnt/β-catenin pathway plays an essential role in the tumorigenesis of colorectal cancer. T-cell factor-4 (TCF4) is a member of the TCF/LEF (lymphoid enhancer factor) family of transcription factors, and dysregulation of β-catenin is decisive for the initiation and progression of colorectal cancer. However, the rol...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms160510411
更新日期：2015-05-07 00:00:00
abstract：:Fragile X syndrome (FXS) is a leading genetic disorder of intellectual disability caused by the loss of the functional fragile X mental retardation protein (FMRP). To date, there is no efficacious mechanism-based medication for FXS. With regard to potential disease mechanisms in FXS, it is widely accepted that the lac...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21239327
更新日期：2020-12-07 00:00:00
abstract：:Human endogenous retroviruses (HERVs) are genetic parasites, in-between genetics and environment. Few HERVs retain some coding capability. Sometimes, the host has the advantage of some HERV genes; conversely, HERVs may contribute to pathogenesis. The expression of HERVs depends on several factors, and is regulated epi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20153706
更新日期：2019-07-29 00:00:00
abstract：:The olfactory system, composed of the olfactory organs and the olfactory bulb, allows organisms to interact with their environment and through the detection of odor signals. Olfaction mediates behaviors pivotal for survival, such as feeding, mating, social behavior, and danger assessment. The olfactory organs are dire...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20071639
更新日期：2019-04-02 00:00:00
abstract：:In the scenario of personalized medicine, targeted therapies are currently the focus of cancer drug development. These drugs can block the growth and spread of tumor cells by interfering with key molecules involved in malignancy, such as receptor tyrosine kinases (RTKs). MET and Recepteur d'Origine Nantais (RON), whic...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21030722
更新日期：2020-01-22 00:00:00
abstract：:Ketamine, a multimodal anesthetic drug, has become increasingly popular in the treatment of pain following traumatic injury as well as treatment-resistant major depressive disorders. However, the psychological impact of this dissociative medication on the development of stress-related disorders such as post-traumatic ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21197173
更新日期：2020-09-28 00:00:00
abstract：:Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for α thalassaemia screening from 2007 to 2010 were retrieved. The aims of this r...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms140918599
更新日期：2013-09-10 00:00:00
abstract：:Glyphodes pyloalis Walker (Lepidoptera: Pyralididae) is a serious pest in the sericulture industry, which has caused damage and losses in recent years. With the widespread use of insecticides, the insecticide resistance of G. pyloalis has becomes increasingly apparent. In order to find other effective methods to contr...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21051904
更新日期：2020-03-10 00:00:00
