Abstract:
:The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal. Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about 40% of patients. Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. The latter are of particular concern in terms of genetic counselling and clinical management, as the effect of the sequence variants in E-cadherin function is not predictable. If a deleterious variant is identified, prophylactic surgery could be recommended. Therefore, over the last few years, intensive research has focused on evaluating the functional consequences of CDH1 missense variants and in assessing E-cadherin pathogenicity. In that context, our group has contributed to better characterize CDH1 germline missense variants and is now considered a worldwide reference centre. In this review, we highlight the state of the art methodologies to categorize CDH1 variants, as neutral or deleterious. This information is subsequently integrated with clinical data for genetic counseling and management of CDH1 variant carriers.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Melo S,Figueiredo J,Fernandes MS,Gonçalves M,Morais-de-Sá E,Sanches JM,Seruca Rdoi
10.3390/ijms18122687subject
Has Abstractpub_date
2017-12-12 00:00:00issue
12issn
1422-0067pii
ijms18122687journal_volume
18pub_type
杂志文章,评审abstract::Thrombospondin-1 (TSP-1) is a potent endogenous inhibitor of both physiological and pathological angiogenesis, widely studied as a target in drug development for treating cancer. Several studies performed in the cardiovascular field on TSP-1 are contradictory, the role of TSP-1 in the physiopathology of cardiovascular...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms18020348
更新日期:2017-02-07 00:00:00
abstract::Diabetic retinopathy (DR), a sight-threatening neurovasculopathy, is the leading cause of irreversible blindness in the developed world. DR arises as the result of prolonged hyperglycemia and is characterized by leaky retinal vasculature, retinal ischemia, retinal inflammation, angiogenesis, and neovascularization. Th...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms20194755
更新日期:2019-09-25 00:00:00
abstract::In mammals, leptin is a peripheral satiety factor that inhibits feeding by regulating a variety of appetite-related hormones in the brain. However, most of the previous studies examining leptin in fish feeding were performed with mammalian leptins, which share very low sequence homologies with fish leptins. To elucida...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms17060783
更新日期:2016-05-30 00:00:00
abstract::Myostatin is a negative regulator of muscle cell growth and proliferation. Furthermore, myostatin directly affects the expression of 14q32 microRNAs by binding the 14q32 locus. Direct inhibition of 14q32 microRNA miR-495-3p decreased postinterventional restenosis via inhibition of both vascular smooth muscle cell (VSM...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21103508
更新日期:2020-05-15 00:00:00
abstract::Working memory deficit is the core neurocognitive disorder in schizophrenia patients. To identify the factors underlying working memory deficit in schizophrenia patients and to explore the implication of possible genes in the working memory using genome-wide association study (GWAS) of schizophrenia, computerized dela...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms16012145
更新日期:2015-01-20 00:00:00
abstract::Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by symmetric polyarthritis with swelling and pain at synovial joints. In RA patients, delayed neutrophil apoptosis amplifies the inflammatory response and massively released neutrophil extracellular traps (NETs) induce tissue damage and provide ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20205035
更新日期:2019-10-11 00:00:00
abstract::Trichoderma reesei is a biotechnologically important filamentous fungus with the remarkable ability to secrete large amounts of enzymes, whose production is strongly affected by both the carbon and nitrogen sources. While the carbon metabolism regulators are extensively studied, the regulation of enzyme production by ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20174100
更新日期:2019-08-22 00:00:00
abstract::Studies conducted on Zebrafish embryos in our laboratory have allowed for the identification of precise moments of organogenesis in which a lot of genes are switched on and off, a sign that the genome is undergoing substantial changes in gene expression. Stem cell growth and differentiation stage-factors present in di...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21144914
更新日期:2020-07-12 00:00:00
abstract::The phototoxic effect of hypericin can be utilized for Photodynamic Therapy (PDT) of cancer. After intravenous application and systemic distribution of the drug in the patient's body, the tumor site is exposed to light. Subsequently, toxic reactive oxygen species (ROS) are generated, inducing tumor cell death. To prev...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms18071388
更新日期:2017-06-29 00:00:00
abstract::Claudin-1 (CLDN1), a tight junctional protein, is highly expressed in lung cancer cells and may contribute to chemoresistance. A drug which decreases CLDN1 expression could be a chemosensitizer for enhancing the efficacy of anticancer drugs, but there is no such drug known. We found that PMTPV, a short peptide, which ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21165909
更新日期:2020-08-17 00:00:00
abstract::The aim of the study was to investigate the effect of using direct electric current (DC) of 0, 200, and 400 mA for five minutes on the physiochemical properties, cytotoxicity, antibacterial, and antioxidant activity of sodium alginate hydrosols with different sodium chloride concentrations. The pH, oxidation-reduction...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms18030678
更新日期:2017-03-22 00:00:00
abstract::NAC (NAM/ATAF/CUC) transcription factors comprise a large plant-specific gene family that contains more than 149 members in rice. Extensive studies have revealed that NAC transcription factors not only play important roles in plant growth and development, but also have functions in regulation of responses to biotic an...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms16024306
更新日期:2015-02-17 00:00:00
abstract::Several studies indicate that bisphenol A (BPA) and phthalates may have a role in the development of metabolic diseases using different molecular pathways, including epigenetic regulatory mechanisms. However, it is unclear whether exposure to these chemicals modifies serum levels of miRNAs associated with gestational ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20133343
更新日期:2019-07-07 00:00:00
abstract::In the two decades since its discovery, a large body of evidence has amassed to highlight the potential of 3-iodothyronamine (T1AM) as an antiobesity drug, whose pleiotropic signaling actions profoundly impact energy metabolism. In the present review, we recapitulate the most relevant properties of T1AM, including its...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21062005
更新日期:2020-03-15 00:00:00
abstract::Neonatal hypoxia-ischemia (HI) is a major cause of death and disability in neonates. HI leads to a dramatic rise in intracellular calcium levels, which was originally thought to be detrimental to the brain. However, it has been increasingly recognized that this calcium signaling may also play an important protective r...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20092063
更新日期:2019-04-26 00:00:00
abstract::In a previous phylogenetic study of the family of pyruvate kinase, we found one cluster with Glu117 and another with Lys117. Those sequences with Glu117 have Thr113 and are K+-dependent, whereas those with Lys117 have Leu113 and are K+-independent. The carbonyl oxygen of Thr113 is one of the residues that coordinate K...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms151222214
更新日期:2014-12-02 00:00:00
abstract::Saturated aqueous solutions of various common salts were examined for their effect on aqueous aldol reactions catalysted by a highly active C(2)-symmetric diprolinamide organocatalyst developed in our laboratory. With respect to the aldol reaction between cyclohexanone and 4-nitrobenzaldehyde, deionised water was alwa...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms12129083
更新日期:2011-01-01 00:00:00
abstract::Even though advancement in medicine has contributed to the control of many diseases to date, cancer therapy continues to pose several challenges. Hepatocellular carcinoma (HCC) etiology is multifactorial. Recently, non-alcoholic fatty liver disease (NAFLD) has been considered as an important risk factor of HCC. NAFLD ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21175999
更新日期:2020-08-20 00:00:00
abstract::For the post-surgical treatment of oral wounds and mucosal defects beyond a certain size, the gold standard is still an autologous skin or mucosal graft in combination with complex suturing techniques. A variety of techniques and biomaterials has been developed for sutureless wound closure including different tissue g...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21197104
更新日期:2020-09-26 00:00:00
abstract::Mitogen-activated protein kinases (MAPKs) are key mediators of signaling in fungi, participating in the response to diverse stresses and in developmental processes. Since the precise regulation of MAPKs is fundamental for cell physiology, fungi bear dual specificity phosphatases (DUSPs) that act as MAP kinase phosphat...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms20071709
更新日期:2019-04-05 00:00:00
abstract::Development of stimuli-responsive supramolecular micelles that enable high levels of well-controlled drug release in cancer cells remains a grand challenge. Here, we encapsulated the antitumor drug doxorubicin (DOX) and pro-photosensitizer 5-aminolevulinic acid (5-ALA) within adenine-functionalized supramolecular mice...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms22010154
更新日期:2020-12-25 00:00:00
abstract::The micronutrients iron (Fe) and zinc (Zn) are not only essential for plant survival and proliferation but are crucial for human health. Increasing Fe and Zn levels in edible parts of plants, known as biofortification, is seen a sustainable approach to alleviate micronutrient deficiency in humans. Wheat, as one of the...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21239280
更新日期:2020-12-05 00:00:00
abstract::The aim of the present study was to determine whether preoperative three-dimensional (3D) fast spin-echo (FSE) T1-weighted magnetic resonance (MR) plaque imaging for severely stenotic cervical carotid arteries could accurately predict the development of artery-to-artery emboli during exposure of the carotid arteries i...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms17111791
更新日期:2016-10-27 00:00:00
abstract::The dimension of the plants largest organelle-the vacuole-plays a major role in defining cellular elongation rates. The morphology of the vacuole is controlled by the actin cytoskeleton, but molecular players remain largely unknown. Recently, the Networked (NET) family of membrane-associated, actin-binding proteins ha...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20194752
更新日期:2019-09-25 00:00:00
abstract::Mast cells (MC) are resident tissue cells found primarily at the interphase between tissues and the environment. These evolutionary old cells store large amounts of proteases within cytoplasmic granules, and one of the most abundant of these proteases is tryptase. To look deeper into the question of their in vivo targ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20205147
更新日期:2019-10-17 00:00:00
abstract::Extramammary Paget's disease (EMPD) is a rare skin cancer arising in the anogenital area. Most EMPD tumors remain dormant as in situ lesions, but the outcomes of patients with metastatic EMPD are poor because of the lack of effective systemic therapies. Nectin cell adhesion molecule 4 (NECTIN4) has attracted attention...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21165891
更新日期:2020-08-16 00:00:00
abstract::Hybrid magnetorheological elastomers (hMREs) were manufactured based on silicone rubber, silicone oil, carbonyl iron microparticles, graphene nanoparticles and cotton fabric. Using the hMREs, flat capacitors (FCs) were made. Using the installation described in this paper, the electrical capacitance and the coefficient...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20174201
更新日期:2019-08-27 00:00:00
abstract::Sleep-wake disorders are highly prevalent disorders, which can lead to negative effects on cognitive, emotional and interpersonal functioning, and can cause maladaptive metabolic changes. Recent studies support the notion that metabolic processes correlate with sleep. The study of metabolite biomarkers (metabolomics) ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21197244
更新日期:2020-09-30 00:00:00
abstract::For many years, it was of interest to identify the sequences encoding the two melatonin receptors (MT₁ and MT₂) from various species. After publishing the basic molecular characterization of the human, rat, mouse, sheep, and platypus MT₁, MT₂, or Mel1c receptors, we began cloning the genes from other animals, such as ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms19071957
更新日期:2018-07-04 00:00:00
abstract::Drought is one of the major environmental factors limiting biomass and seed yield production in agriculture. In this research, we focused on plants from the Fabaceae family, which has a unique ability for the establishment of symbiosis with nitrogen-fixing bacteria, and are relatively susceptible to water limitation. ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20051204
更新日期:2019-03-09 00:00:00