Abstract：
:Among classical BCR-ABL-negative myeloproliferative neoplasms (MPN), primary myelofibrosis (PMF) is the most aggressive subtype from a clinical standpoint, posing a great challenge to clinicians. Whilst the biological consequences of the three MPN driver gene mutations (JAK2, CALR, and MPL) have been well described, recent data has shed light on the complex and dynamic structure of PMF, that involves competing disease subclones, sequentially acquired genomic events, mostly in genes that are recurrently mutated in several myeloid neoplasms and in clonal hematopoiesis, and biological interactions between clonal hematopoietic stem cells and abnormal bone marrow niches. These observations may contribute to explain the wide heterogeneity in patients' clinical presentation and prognosis, and support the recent effort to include molecular information in prognostic scoring systems used for therapeutic decision-making, leading to promising clinical translation. In this review, we aim to address the topic of PMF molecular genetics, focusing on four questions: (1) what is the role of mutations on disease pathogenesis? (2) what is their impact on patients' clinical phenotype? (3) how do we integrate gene mutations in the risk stratification process? (4) how do we take advantage of molecular genetics when it comes to treatment decisions?
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Rumi E,Trotti C,Vanni D,Casetti IC,Pietra D,Sant'Antonio Edoi
10.3390/ijms21238885subject
Has Abstractpub_date
2020-11-24 00:00:00issue
23issn
1422-0067pii
ijms21238885journal_volume
21pub_type
杂志文章,评审abstract：:Sericin is a major constituent of silk produced by silkworms. We previously found that the instillation of sericin enhanced the proliferation of corneal epithelial cells, and acted to promote corneal wound healing in both normal and diabetic model rats. However, the mechanisms by which sericin promotes the proliferati...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19041123
更新日期：2018-04-09 00:00:00
abstract：:A common feature of nuclear receptors (NRs) is the transformation of external cell signals into specific transcriptions of the signal molecule. Signal molecules function as ligands for NRs and, after their uptake, activated NRs form homo- or heterodimers at promoter recognition sequences of the specific genes in the n...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms150611100
更新日期：2014-06-19 00:00:00
abstract：OBJECTIVES:Data on pregnancy long-term effects on multiple sclerosis (MS) course are still controversial; whether experiencing more than one pregnancy exposes one to risk of the disability's accrual is still unknown. We investigated differences existing in terms of disability progression among women with MS (wwMS) who ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17020234
更新日期：2016-02-12 00:00:00
abstract：:Microtubules are the main components of mitotic spindles, and are the pillars of the cellular cytoskeleton. They perform most of their cellular functions by virtue of their unique dynamic instability processes which alternate between polymerization and depolymerization phases. This in turn is driven by a precise balan...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18102042
更新日期：2017-09-22 00:00:00
abstract：:Epigenetic alterations by promoter DNA hypermethylation and gene silencing in cancer have been reported over the past few decades. DNA hypermethylation has great potential to serve as a screening marker, a prognostic marker, and a therapeutic surveillance marker in cancer clinics. Some bodily fluids, such as stool or ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18040735
更新日期：2017-03-30 00:00:00
abstract：:To develop a biodegradable polymer possessing elasticity and flexibility, we synthesized MPEG-b-(PCL-co-PLA) copolymers (PC x L y A), which display specific rates of flexibility and elasticity. We synthesize the PC ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18030671
更新日期：2017-03-21 00:00:00
abstract：:Aging is associated with a dysregulation of the immune system, leading to a general pro-inflammatory state of the organism, a process that has been named inflamm-aging. Oxidative stress has an important role in aging and in the regulation of immune responses, probably playing a role in the development of age-related d...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18122612
更新日期：2017-12-05 00:00:00
abstract：:The small abalone, Haliotis diversicolor supertexta, of the family Haliotidae, is one of the most important species of marine shellfish in eastern Asia. Over the past few decades, this species has drastically declined in Korea. Thus, hatchery-bred seeds have been released into natural coastal areas to compensate for t...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms130910750
更新日期：2012-01-01 00:00:00
abstract：:Previously, we developed a novel microRNA (miRNA) delivery system based on bacteriophage MS2 virus-like particles (MS2 VLPs). In this current study, we used this system to transport miR-146a into human peripheral blood mononuclear cells (PBMCs), and demonstrated the inhibition of osteoclastogenesis in precursors. Two ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms16048337
更新日期：2015-04-14 00:00:00
abstract：:This paper presents the results obtained after studying the thermal stability and decomposition kinetics of perindopril erbumine as a pure active pharmaceutical ingredient as well as a solid pharmaceutical formulation containing the same active pharmaceutical ingredient (API). Since no data were found in the literatur...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18010164
更新日期：2017-01-15 00:00:00
abstract：:The kidney is innervated by afferent sensory and efferent sympathetic nerve fibers. Norepinephrine (NE) is the primary neurotransmitter for post-ganglionic sympathetic adrenergic nerves, and its signaling, regulated through adrenergic receptors (AR), modulates renal function and pathophysiology under disease condition...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21051647
更新日期：2020-02-28 00:00:00
abstract：:Operating at multiple levels of control, mesenchymal stem cells from adipose tissue (ADSCs) communicate with organ systems to adjust immune response, provide signals for differentiation, migration, enzymatic reactions, and to equilibrate the regenerative demands of balanced tissue homeostasis. The identification of th...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18010208
更新日期：2017-01-20 00:00:00
abstract：:Autoimmune diabetes is a complex multifactorial disease with genetic and environmental factors playing pivotal roles. While many genes associated with the risk of diabetes have been identified to date, the mechanisms by which external triggers contribute to the genetic predisposition remain unclear. Here, we derived e...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21165743
更新日期：2020-08-11 00:00:00
abstract：:Genomic DNA is constantly damaged by factors produced during natural metabolic processes as well as agents coming from the external environment. Considering such a wide array of damaging agents, eukaryotic cells have evolved a DNA damage response (DRR) that opposes the influence of deleterious factors. Despite the bro...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21113934
更新日期：2020-05-30 00:00:00
abstract：:Mammalian aquaporins (AQPs) are transmembrane channels expressed in a large variety of cells and tissues throughout the body. They are known as water channels, but they also facilitate the transport of small solutes, gasses, and monovalent cations. To date, 13 different AQPs, encoded by the genes AQP0-AQP12, have been...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20082039
更新日期：2019-04-25 00:00:00
abstract：:In this study, we systematically investigated the process of sex reversal induced by 17-methyltestosterone (MT) feeding and MT-feeding withdrawal at the ovary differentiation stage in orange-spotted groupers, Epinephelus coioides. Gonadal histology showed that MT feeding induced a precocious sex reversal from immature...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19092828
更新日期：2018-09-19 00:00:00
abstract：:In this paper, we investigated the activation energies of the aggregation−disaggregation self-oscillation induced by the Belousov-Zhabotinsky (BZ) reaction by utilizing the nonthermoresponsive polymer chain in a wide temperature range. This is because the conventional type self-oscillating polymer chain, with thermore...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms131216281
更新日期：2012-12-03 00:00:00
abstract：:In general, a drug candidate is evaluated using 2D-cultured cancer cells followed by an animal model. Despite successful preclinical testing, however, most drugs that enter human clinical trials fail. The high failure rates are mainly caused by incompatibility between the responses of the current models and humans. He...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18112348
更新日期：2017-11-07 00:00:00
abstract：:Mitochondrial transplantation therapy is an innovative strategy for the treatment of mitochondrial dysfunction. The approach has been reported to be useful in the treatment of cardiac ischemic reperfusion injuries in human clinical trials and has also been shown to be useful in animal studies as a method for treating ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21176365
更新日期：2020-09-02 00:00:00
abstract：:Late blight caused by Phytophthora infestans (Montagne, Bary) is a devastating disease of tomato worldwide. There are three known major genes, Ph-1, Ph-2, and Ph-3, conferring resistance to late blight. In addition to these three genes, it is also believed that there are additional factors or quantitative trait loci (...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18071589
更新日期：2017-07-22 00:00:00
abstract：:The DNA repair gene X-ray cross-complementary group 4 (XRCC4), an important caretaker of the overall genome stability, is thought to play a major role in human tumorigenesis. We investigated the association between an important polymorphic variant of this gene at codon 247 (rs373409) and diffusely infiltrating astrocy...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms15010250
更新日期：2013-12-27 00:00:00
abstract：:Two Cu(II) complexes, 1 and 2, with tridentate Schiff bases derived from 2-hydroxy-5-methylisophthalaldehyde and histamine HL1 or 2-(2-aminoethyl)pyridine HL2, respectively, were obtained and characterized by X-ray crystallography, spectroscopic (UV-vis, fluorescence, IR, and EPR), magnetic, and thermal methods. Despi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21134587
更新日期：2020-06-28 00:00:00
abstract：:Cationic polymeric nanoparticles (NPs) have the ability to overcome biological membranes, leading to improved efficacy of anticancer drugs. The modulation of the particle-cell interaction is desired to control this effect and avoid toxicity to normal cells. In this study, we explored the surface functionalization of c...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20092350
更新日期：2019-05-11 00:00:00
abstract：:We examined the effects of gut microbial catabolites of tryptophan on the aryl hydrocarbon receptor (AhR). Using a reporter gene assay, we show that all studied catabolites are low-potency agonists of human AhR. The efficacy of catabolites differed substantially, comprising agonists with no or low (i3-propionate, i3-a...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21072614
更新日期：2020-04-09 00:00:00
abstract：:Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic KMT2D deletio...
journal_title：International journal of molecular sciences
pub_type：
doi：10.3390/ijms19010082
更新日期：2017-12-28 00:00:00
abstract：:Polyphenolic compounds contained in cherry extract (CE) are well known for their antioxidant and anti-inflammatory properties. Unfortunately, most of these natural compounds have low oral bioavailability, reducing their widespread use. Here, different concentrations of polyphenol-rich CE from Tuscany (Italy), encapsul...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20071759
更新日期：2019-04-10 00:00:00
abstract：:Protein arginine deimination leading to the non-coded amino acid citrulline remains a key question in the field of post-translational modifications ever since its discovery by Rogers and Simmonds in 1958. Citrullination is catalyzed by a family of enzymes called peptidyl arginine deiminases (PADIs). Initially, increas...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21041351
更新日期：2020-02-17 00:00:00
abstract：:Since 2003, several loss-of-function mutations in the HCN4 gene, which encodes the HCN4 protein, have been associated with sinus node dysfunction. In human sinoatrial node (SAN), HCN4 is the most abundant of the four isoforms of the HCN family. Tetramers of HCN subunits constitute the ion channels that conduct the hyp...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms16023071
更新日期：2015-01-29 00:00:00
abstract：:Cell adhesion ability is one of the components to establish cell organization and shows a great contribution to human body construction consisting of various types of cells mixture to orchestrate tissue specific function. The cell adhesion molecule 1 (CADM1) is a molecule of cell adhesion with multiple functions and h...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21249732
更新日期：2020-12-20 00:00:00
abstract：:In mammals, the effects of estrogen are mainly mediated by two different estrogen receptors, ERα and ERβ. These proteins are members of the nuclear receptor family, characterized by distinct structural and functional domains, and participate in the regulation of different biological processes, including cell growth, s...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18071381
更新日期：2017-06-28 00:00:00
