Abstract：
:Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy, severe neuromotor and developmental delay, dystonic tetraparexia, axonal motor affectation, and hyper-excitability of unknown origin. The WES study detected within the patient a de novo heterozygous in-frame duplication of thirty-six nucleotides within exon 7 of the human KCNQ2 gene. This insertion duplicates the first twelve amino acids of the calmodulin binding site I. Molecular dynamics simulations of this KCNQ2 peptide duplication, modelled on the 3D structure of the KCNQ2 protein, suggest that the duplication may lead to the dysregulation of calcium inhibition of this protein function.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Lazo PA,García JL,Gómez-Puertas P,Marcos-Alcalde Í,Arjona C,Villarroel A,González-Sarmiento R,Fons Cdoi
10.3390/ijms21124447subject
Has Abstractpub_date
2020-06-23 00:00:00issue
12issn
1422-0067pii
ijms21124447journal_volume
21pub_type
abstract：:Ammonium trichloro[1,2-ethanediolato-O,O']-tellurate (AS101) is the most important synthetic Te compound from the standpoint of its biological activity. It is a potent immunomodulator with a variety of potential therapeutic applications and antitumoral action in several preclinical and clinical studies. An experimenta...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms15023287
更新日期：2014-02-21 00:00:00
abstract：:Lipopolysaccharides (LPS, endotoxin) are complex and indispensable components of the outer membrane of most Gram-negative bacteria. They represent stimuli for many biological effects with pathophysiological character. Recombinant therapeutic proteins that are manufactured using biotechnological processes are prone to ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18122737
更新日期：2017-12-16 00:00:00
abstract：:Endonuclease IV (EndoIV) is a DNA damage-specific endonuclease that mainly hydrolyzes the phosphodiester bond located at 5' of an apurinic/apyrimidinic (AP) site in DNA. EndoIV also possesses 3'-exonuclease activity for removing 3'-blocking groups and normal nucleotides. Here, we report that Thermococcus eurythermalis...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20010069
更新日期：2018-12-24 00:00:00
abstract：:Promising targeted therapy and personalized medicine are making molecular profiling of tumours a priority. For colorectal cancer (CRC) patients, international guidelines made RAS (KRAS and NRAS) status a prerequisite for the use of anti-epidermal growth factor receptor agents (anti-EGFR). Daily, new data emerge on the...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17122117
更新日期：2016-12-16 00:00:00
abstract：:Tuberculosis (TB) is a global epidemic caused by the infection of human macrophages with the world's most deadly single bacterial pathogen, Mycobacterium tuberculosis (M.tb). M.tb resides in a phagosomal niche within macrophages, where trace element concentrations impact the immune response, bacterial metal metabolism...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18112375
更新日期：2017-11-09 00:00:00
abstract：:Recent comparative studies have indicated distinct expression profiles of short, non-coding microRNAs (miRNAs) in various types of cancer, including oral squamous cell carcinoma (OSCC). In this study, we employed a hybrid approach using Drosophila melanogaster as well as OSCC cell lines to validate putative targets of...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21197232
更新日期：2020-09-30 00:00:00
abstract：:The series of reactive biological events that we identify as inflammation has been investigated in recent years and unveiled as an important mechanism for regeneration. The study of the underlying complexity has been boosted by new technological innovation in research and allowed the identification of inflammatory res...
journal_title：International journal of molecular sciences
pub_type： 社论
doi：10.3390/ijms20163879
更新日期：2019-08-09 00:00:00
abstract：:The largest group of deubiquitinases-ubiquitin-specific proteases (UBPs)-perform extensive and significant roles in plants, including the regulation of development and stress responses. A comprehensive analysis of UBP genes has been performed in Arabidopsis thaliana, but no systematic study has been conducted in moso ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20174309
更新日期：2019-09-03 00:00:00
abstract：:Acidic environments, such as in inflamed tissues, favor the charged form of local anesthetics (LA). Hence, these drugs show less cell permeation and diminished potency. Since the analgesic capsaicin (CAP) triggers opening of the TRPV1 receptor pore, its combination with LAs could result in better uptake and improved a...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21165741
更新日期：2020-08-10 00:00:00
abstract：:Diabetes and respiratory diseases are frequently comorbid conditions. However, the mechanistic links between hyperglycemia and lung dysfunction are not entirely understood. This study examined the effects of high sucrose intake on lung mechanics and alveolar septal composition and tested voluntary activity as an inter...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20102438
更新日期：2019-05-17 00:00:00
abstract：:Human induced pluripotent stem cells (iPSCs) hold enormous promise for regenerative medicine. The major safety concern is the tumorigenicity of transplanted cells derived from iPSCs. A potential solution would be to introduce a suicide gene into iPSCs as a safety switch. The herpes simplex virus type 1 thymidine kinas...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20040810
更新日期：2019-02-14 00:00:00
abstract：:Nutritional immunity is a form of innate immunity widespread in both vertebrates and invertebrates. The term refers to a rich repertoire of mechanisms set up by the host to inhibit bacterial proliferation by sequestering trace minerals (mainly iron, but also zinc and manganese). This strategy, selected by evolution, r...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21062145
更新日期：2020-03-20 00:00:00
abstract：:NLRP3 (NOD-like receptor family, pyrin domain-containing protein 3) activation has been linked to several chronic pathologies, including atherosclerosis, type-II diabetes, fibrosis, rheumatoid arthritis, and Alzheimer's disease. Therefore, NLRP3 represents an appealing target for the development of innovative therapeu...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20204974
更新日期：2019-10-09 00:00:00
abstract：:The genetic diversity and population genetic structure of 252 accessions from 21 Prunus sibirica L. populations were investigated using 10 ISSR, SSR, and SRAP markers. The results suggest that the entire population has a relatively high level of genetic diversity, with populations HR and MY showing very high diversity...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms15010377
更新日期：2013-12-31 00:00:00
abstract：:Wounds are a largely unrecognized, spiraling epidemic that affect millions of people world-wide [...]. ...
journal_title：International journal of molecular sciences
pub_type： 社论
doi：10.3390/ijms20071724
更新日期：2019-04-08 00:00:00
abstract：:Cholangiocarcinoma (CCA) is the second most common type of liver cancer, and is highly aggressive with very poor prognosis. CCA is classified into intrahepatic cholangiocarcinoma (iCCA) and extra-hepatic cholangiocarcinoma (eCCA), which is further stratified into perihilar (pCCA) and distal (dCCA). Cancer stem cells (...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20174154
更新日期：2019-08-25 00:00:00
abstract：:Sarcopenia is a condition of muscle dysfunction, commonly associated with chronic liver disease (CLD), characterized by a decline in muscle strength, the activation of the ubiquitin-proteasome system (UPS), and oxidative stress. We recently described a murine model of CLD-induced sarcopenia by intake of hepatotoxin 3,...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21217922
更新日期：2020-10-25 00:00:00
abstract：:Natural autoantibodies to the IGF1 receptor (IGF1R-aAb) have been described in relation to Graves' ophthalmopathy. Other physiological roles of natural IGF1R-aAb are not known. We hypothesized that IGF1R-aAb may be related to muscle development. Serum samples (n = 408) from young overweight subjects (n = 143) were col...
journal_title：International journal of molecular sciences
pub_type： 临床试验,杂志文章
doi：10.3390/ijms21020463
更新日期：2020-01-11 00:00:00
abstract：:Alfalfa is an autotetraploid, allogamous and heterozygous forage legume, whose varieties are synthetic populations. Due to the complex nature of the species, information about genetic diversity of germplasm used in any alfalfa breeding program is most beneficial. The genetic diversity of five alfalfa varieties, involv...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms12085449
更新日期：2011-01-01 00:00:00
abstract：:The protective effect of sesamin (SES) from sesame meal on NIT-1 pancreatic β-cells damaged by streptozotocin (STZ) in vitro was investigated. The cell viability, insulin secretion, the activity of superoxide dismutase(SOD), glutathione peroxidase (GSHpx) and the content of reduced glutathione (GSH) increased signific...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms131216961
更新日期：2012-12-11 00:00:00
abstract：:Growing importance has been attributed to interactions between tumors, the stromal microenvironment and adult mesenchymal stem cells. Adipose-derived stem cells (ASCs) are routinely employed in regenerative medicine and in autologous fat transfer procedures. To date, clinical trials have failed to demonstrate the pote...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20133296
更新日期：2019-07-04 00:00:00
abstract：:The stem cells of neurogenesis and carcinogenesis share many properties, including proliferative rate, an extensive replicative potential, the potential to generate different cell types of a given tissue, and an ability to independently migrate to a damaged area. This is also evidenced by the common molecular principl...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21051691
更新日期：2020-03-01 00:00:00
abstract：:Parkinson's disease (PD) is characterized by distinct motor and non-motor symptoms. Sleep disorders are the most frequent and challenging non-motor symptoms in PD patients, and there is growing evidence that they are a consequence of disruptions within the circadian system. PD is characterized by a progressive degener...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19061651
更新日期：2018-06-03 00:00:00
abstract：:Synovial sarcoma is a rare but highly malignant and metastatic disease. Despite its relative sensitivity to chemotherapies, the high recurrence and low 5-year survival rate for this disease suggest that new effective therapeutic agents are urgently needed. Marine antimicrobial peptide epinecidin-1 (epi-1), which was i...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21062109
更新日期：2020-03-19 00:00:00
abstract：:The cell membrane is a complex and highly regulated system that is composed of lipid bilayer and proteins. One of the main functions of the cell membrane is the regulation of cell entry. Cell-penetrating peptides (CPPs) are defined as peptides that can cross the plasma membrane and deliver their cargo inside the cell....
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21134719
更新日期：2020-07-02 00:00:00
abstract：:A simple and reliable method of ultra-performance liquid chromatography with photodiode array detector (UPLC-PDA) was developed to control the quality of Radix Isatidis (dried root of Isatis indigotica) for chemical fingerprint analysis and quantitative analysis of eight bioactive constituents, including R,S-goitrin, ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms13079035
更新日期：2012-01-01 00:00:00
abstract：:Members of the mitochondrial carrier (MC) protein family transport various molecules across the mitochondrial inner membrane to interlink steps of metabolic pathways and biochemical processes that take place in different compartments; i.e., are localized partly inside and outside the mitochondrial matrix. MC substrate...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20184456
更新日期：2019-09-10 00:00:00
abstract：:Immunomodulation is increasingly being recognised as a part of mental diseases. Here, we examined whether levels of immunological protein markers changed with depression, age, or the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). An analysis of plasma samples from patients with a major depressive episode ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20246172
更新日期：2019-12-06 00:00:00
abstract：:Understanding how cell organelles and compartments communicate with each other has always been an important field of knowledge widely explored by many researchers. However, despite years of investigations, one point-and perhaps the only point that many agree on-is that our knowledge about cellular-signaling pathways s...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21176173
更新日期：2020-08-26 00:00:00
abstract：:The improvement of the embryo culture media is of high relevance due to its influence on successful implantation rates, pregnancy, neonatal outcomes, and potential effects in adult life. The ideal conditions for embryo development are those naturally occurring in the female reproductive tract, i.e., the oviductal and ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20215305
更新日期：2019-10-24 00:00:00
