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The effects of the encapsulation of Satureja bachtiarica essential oil with chitosan on the shelf life and quality of pomegranate seeds were studied in an experiment based on a completely randomized design with eight treatments, including different ratios of chitosan to S. bachtiarica essential oil (control, 1:1–0.3, 1:1–0.6, 1:2–0.3, 1:2–0.6, 1:3–0.3, 1:3–0.6) and three replications. The results showed that the highest fruit extract pH was observed in the control treatment before the storage period. The post-storage control treatment exhibited the highest total soluble solids (TSS). The highest organic acid was obtained from the extract treated with the chitosan: essential oil ratio of 0.6-1 and from the control plants before the storage period. The post-storage control treatment had the lowest organic acid content. During the storage period, anthocyanin content was decreased significantly relative to the control treatment before the storage period. The chitosan:essential oil ratios of 3-0.3 and 3-0.6 brought about the highest antioxidant capacity. During the storage period, the application of chitosan:essential oil ratio of 2-0.6 increased phenol content compared to the control before the storage period. The highest weight loss was observed in the treatment of chitosan:essential oil ratio of 3-0.6. Overall, coating pomegranate seeds and selecting an appropriate concentration of S. bachtiarica for incorporation into the chitosan coating can contribute to preserving the shelf life, marketability, and nutritional quality of pomegranate seeds.

The Safflower capsule fly (SCF), Acanthiophilus helianthi Rossi (Diptera: Tephritidae) is the most destructive insect pest attacking the Safflower Carthamus tinctorius L. plant which are cultivated as an oil crop. It is mainly controlled through application of broad-spectrum insecticides, which can adversely affect safflower farms ecosystem and consequently human health. Since a first step in setting up an integrated pest management program is to assess the biological control agents within the ecosystem. Therefore, in this research work the pupal parasitoids of Safflower capsule fly a main insect pest attacking Safflower plants were identified. The impact of these parasitoids against this pest was evaluated on the varying pest generations and within different locations in Kohgiluyeh province during 2008-2009 seasons. Pupal parasitoid adults of SCF were recorded from fieldreared pupae, which had been collected from heavily infested small flower heads of the first generation as well from large flower heads of the second and third generations. Rate of parasitism on A. helianthi pupae was estimated as the number of parasitoids over the total count of parasitoids and flies. Ten hymenopterous species belonging to different families parasitizing insect pupae were screened as follows: Bracon hebetor (Spinola, 1808) and Bracon luteator (Spinola, 1808) (Braconidae); Isocolus tinctorious (Melika and Gharaei, 2006) (Cynipidae); Pronotalia carlinarum (Szelenyi and Erdos, 1951) (Eulophidae); Eurytoma acroptilae (Zerova, 1986) (Eurytomidae); Ormyrus orientalis (Walker, 1871) (Ormyridae); Colotrechnus viridis (Masi, 1921) and Pteromalus sp. (Walker, 1976) (Pteromalidae); and Antistrophoplex conthurnatus (Zerova, 2000) and Microdontomenus annulatus (Masi, 1899) (Torymidae). The average parasitization rate was 23±1 as revealed through the present study. The highest parasitization rate occurred during the first generation in all localities tested, as well as in years. Statistical analysis revealed that there were significant differences between parasitization rates by pupal parasitoids within various host generations and localities.

The citrus leaf miner, Phyllocnistis citrella Stainton (Lep., Gracillariidae), is one of the most destructive pest of citrus and related Rutaceae and ornamental plants in Iran. Larvae damage leaves by creating serpentine feeding mines, which have been lead to reduce yield. Resistance and toxicity problems derived from synthetic insecticides have made it necessary to find more effective and healthier alternatives; therefore, bio-insecticides (i.e., Bacillus thuringiensis) are becoming an important component in plant protection. The aim of the present study was to evaluate the efficiency of B. thuringiensis against P. citrella. Eight B. thuringiensis concentrations were used against P. citrella L3 on orange and mortality was recorded at 1, 4, 7 and 10 days after spraying. The results showed that B. thuringiensis significantly affected mortality of P. citrella. After 1, 4, 7 and 10 days of spraying 108 concentration of B. thuringiensis had significantly caused the highest mortality to the pest with 59.8, 68.4, 73.6 and 77.0%, respectively. Then the mortality percent decreased until it reached 6.5, 9.5, 39.3 and 46.7% at 101 concentration, respectively. In conclusion, the study indicated that B. thuringiensis is effective in controlling P. citrella under laboratory conditions.

Oilseeds such as flax, canola, safflower, soybean and sunflower, which are annual plants, provide the world’s major source of vegetable oils, although the highest oil yield comes from oil-bearing tree fruits. One of the most popular oil seeds is safflower (Carthamus tinctorius L.), which belongs to the Asteraceae family. Due to the ability of this plant to grow in dry and semi-dry conditions, safflower oil has the potential to be a commercially profitable product in Iran. Seasonal populations of safflower capsule flies were studied in Kohgiluyeh safflower farms, Iran, from March to May in 2008 and 2009. Four yellow sticky traps were used to monitor populations of fruit flies in the safflower farms. Traps were checked once a week during the sampling period. The traps were emptied weekly into insect collection vials containing 70% ethanol. Data were analysed with a two-way ANOVA. The relation between abiotic factors and species abundance was analysed with multiple linear regression. The results emphasized that Acanthiophilus helianthi was the most serious pest of safflower under the ecological conditions found in Gachsaran, being present in the field throughout three months of the year (March to May). Chaetorellia carthami was present in safflower fields from March to May, but in significant numbers only during April and May. Terellia luteola was present in safflower fields from March to May and in significant numbers only in late April, it does not seem to be a serious pest in safflower farms under Gachsaran’s ecological conditions.

The present research conducted to see the biodiversity of insects in warm and cool areas from March to April in 2009 at the Gachsaran Agricultural Research Station. A total number of 4261 specimens, which were identified into 31 families and 92 species. Out of total 31 families collected, 10 families were pests, 2 families belongs to predators and beneficial insects and 7 families belongs to parasitoids and beneficial insects and finally, 12 families of insects are saprophage and polyphagous. There was no significant difference (P>0.05) in the number of insects collected between months. The mean number of insects collected in the month of March, April and May was 34.7, 30.7 and 36.2 respectively. The Basht area is most susceptible host for insects (37.9), while the Gachsaran and Lishter areas is less susceptible (33.5) and (28.4) so both sites not differ significantly in the population of insects. The family Coccinellidae had more population in the Gachsaran-safflower zone (98.3) than the Basht-safflower zone (54.6) and it was significantly similar to the family cicadellidae. Similarly, different families like Aphididae (98.0), Cicadellidae (74), Thripidae (50.0), Curculionidae (26.6), Noctuidae (25.0) and Torymidae (27.3) had higher population in the Gachsaran-safflower zone than in the Basht-safflower area with means of 92.3, 63.0, 42.6, 21.0, 21.6 and 19.3 respectively. Also the families like Nymphalide, Pieridae, Lygaeidae, Papilionidae, Miridae, Pentatomidae, Reduviidae, Geometridae, Gryllotalpidae, Mantidae, Acrididae, Saturnidae and Anthocoridae had mean population of 12.6, 7.4, 12.0, 4.1, 4.4, 8.6, 1.9, 0.5, 7.5, 2.4, 11.3, 3.3 and 8.9.

Alfalfa (Medicago sativa L.) is the oldest and the most important forage legume. It has been cultivated for forage longer than any other crop. Diversity indices provide information about community composition. Diversity indices are measured by species richness and species evenness therefore, it could give us more ecological information rather than a simple species list in the fields. During 2015-2016, aphids and ladybird beetle’s abundance and diversity were monitored in alfalfa fields of Yasouj. Samplings were conducted with 150 plants in the alfalfa fields from mid-May to mid-November. Species richness was measured using Shannon and Simpson indices. In this study, six aphids and five coccinellid species were collected and identified. Among the collected aphid species, Aphis fabae (Scopoli, 1763) and Therioaphis maculata (Buckton, 1899) were most abundant in the fields. For coccinellids, Coccinella septempunctata L. was the most abundant species. Highest aphid species diversity was observed on 17 May 2016.

The lentil weevil, Bruchus lentis Frӧlich, (Coleoptera: Chrysomelidae: Bruchinae) is the most serious pest of lentil in Iran. Economic losses due to this pest reach up to 40% of the lentil crop. Over a two-year study (2012 and 2013) in Agricultural Research Station of Gachsaran Region, best timing of chemical control of B. lentis was determined. A field experiment with cultivation of lentil Sina variety Lens culinaris Medik was conducted in a randomized complete block design with five treatments and three replications. The treatments consisted of spraying four times (respectively, during the early flowering, 10 days after the first spraying, 10 days after the second spraying; 10 days after the third spraying) and control (without spraying). For the spraying from Endosulfan insecticide EC50% at ratio one liter per hectare was used. Three samples were taken from the pods and totally 150 pods from each replicate for contaminations of seeds were investigated. After the determination of the percent of seeds contamination, results were statistically analysed. Based on the results obtained, first spray treatment, with the mean contamination of 15.45% and second spray treatment with the mean contamination of 12.25% had the highest impact on reducing contamination lentil seeds to B. lentis and between them there was no statistically significant difference and were in one group. Therefore, spraying one time during the early flowering until 15 days after it was the best time to control of B. lentis.

Antifeedant activity of plant extract from Mentha piperita was tested against the cowpea seed beetle, Callosobruchus maculatus. Dry ground plant was subjected to hydrodistillation using a Clevenger-type apparatus. The resulting oil contained menthone (28.9%), menthol (28.5%), and pulegone (6.9%) as the major compounds. LC50 of M. piperita essential oil was 25.70 μL/L air and mortality increased as the doses of essential oil increased. LT50 values were 3.29, 2.74 and 1.89 h at 100, 200 and 500 μL/L air, respectively. The results of persistence test of oil revealed that essential oil of M. piperita on C. maculatus adults was 5.44 days. It was clear from the repellency index that M. piperita essential oil has strong repellency at 90, 180 and 360 μL/L air concentration. The results showed that M. piperita essential oil has significantly affected the relative growth rate, relative consumption rate and feeding deterrence index of C. maculatus adults and it was concentration-dependent. The efficiency of conversion of ingested food has decreased while the concentrations are not statistically different at 5% level compared to the control group. It seems that essential oil can be used as low-risk insecticides.

Antifeedant activity of plant extracts from Mentha piperita L. and Mentha pulegium L. were tested against the Indian meal moth, Plodia interpunctella (Hübner). The nutritional indices: relative growth rate (RGR), relative consumption rate (RCR), efficiency of conversion of ingested food (ECI) and feeding deterrence index (FDI) were measured for first-instar larvae (15-d old). Treatments were evaluated using a flour disk bioassay in the dark, at 25±1°C and 60±5% R.H. Concentrations of 0, 0.1, 0.5, 0.75, 1, 1.5 and 2 mL/disk were prepared from each essential oil. After 72 h, nutritional indices were calculated. M. piperita oils were more effective than M. pulegium oils, by significantly decreasing the RGR, RCR and FDI. At the highest concentration tested (2 mL/disk), the ECI (9%) was significantly reduced.

Background and objectives: The Verbascum genus is the largest genus of Scrophulariaceae family which has extensive natural habitat in southwest of Iran. Phenolic acids are one of the most important chemical compounds that have different biological activities including anti-inflammatory, antibacterial, antiviral, anti-tumor and antioxidant. Therefore, this study was conducted with the aim of caffeic acid quantification of 4 species of Verbascum sp. ecotypes from southwest Iran. Methods: Nine ecotypes of the 4 species (V. macrophyllus, V. pseudo- digitalis, V. sinatum, V. songaricum) were collected from the southwest of Iran. Quantification of caffeic acid contentusing reversed-phase high-performance liquid chromatography (RP-HPLC) with UV PDA 2800 detector, a C18 column with dimensions of 250×4.6 mm was performed. Results: The results showed that Verbascum sp. contained caffeic acid compound and there was a difference among species and ecotypes. The results showed the highest and lowest content of caffeic acid obtained from the V. sinatum species and ecotype Sepidan (7.76 μg/mg extract) and V. songaricum species and ecotype Farokhshahr (0.54 μg/mg extract), respectively. Conclusion: The results revealed a high level of variation in caffeic acid among Verbascum sp. which was affected by habitat and climatic. The pattern of habitats of suitable ecotypes superior in terms of composition to should be selected and used for breeding and cropping mullein.

the aim of this study was to assess different surgical approaches of supracondylar fracture in 31 children.the surgical approches consisted of anteromedial (16 cases),posterior (13 cases) and anterolateral (2 cases). the rate of persistent complications was higher in the posterior approach.the most common complication eas soft tissue atrophy in posterior of elbow (69%) followed by limitation of the range of motion (47%). two cases of cubitus varus and a case of supination was also seen in the posterior approach.in 16 cases of anteromedial approach,14 cases (88%) had excellent results with no complications,however in one case there was a slight limitation of extension and cubitus varus was seen in another case.in the two cases which were operate through anterolateral approach no complication was observed.regarding the findings of this study,it seems that complications of posterior approach are higher than the other approaches studied in this report.therefore because of posteromedial displacement and the tearing of soft tissue,the anterolateral and anteromedial approaches are recommended.

Introduction: Hypertension is a chronic condition that requires active patient management and awareness of treatment strategies. This study aimed to evaluate the effectiveness of an intervention program grounded in the Transtheoretical Model (TTM) of behavior change for improving treatment adherence among hypertensive patients., Materials and Methods: This study conducted at the Nukan Comprehensive Rural Health Center in Kermanshah, Iran, 120 participants were selected according to specific inclusion criteria. Demographic data and responses to 20 hypertension-related behavior questions were collected via a questionnaire. Participants were categorized into non-adherence (pre-contemplation, contemplation, preparation stages) and adherence categories (action and maintenance stages) based on self-reported medication adherence, with 60 individuals in each group. Each group was then randomly divided into intervention and control subgroups. The educational intervention consisted of four 45 min sessions grounded in TTM constructs regarding to health-related behaviors including Physical activity, salt and oil intake, and fruit and vegetable consumption, and medication adherence. Three months post-intervention, a follow-up questionnaire evaluated the educational impact on treatment adherence. The McNemar test and Chi-square test were utilized to analyze effects across the intervention, control, and pre- and post-intervention groups., Results: The participants had a mean age of 58.09 years (SD = 11.85). Three months after the intervention, the non-adherence intervention group showed significant progress in transitioning to the action and maintenance stages across all physical activity behaviors, as well as in salt, oil, fruit and vegetable intake, and medication adherence ( P  < 0.005). In the adherence intervention group, after the intervention, the number of hypertensive patients who fell into the action and maintenance categories according to all lifestyle variables increased, but the change was not significant. Concerning blood pressure, the intervention group had a significant reduction in mean systolic blood pressure (142.88 ± 20.87 vs. 141.00 ± 18.52; p  = 0.015), but the decrease in mean diastolic blood pressure was not significant (88.17 ± 10.30 vs. 87.58 ± 9.70; p  = 0.154). No significant changes in systolic or diastolic blood pressure were observed in the control or in intervention groups within the adherence category., Conclusion: This research highlights the potential benefits of applying the TTM to tailor interventions for hypertensive patients with poor treatment adherence, suggesting that such an approach can enhance the efficacy of health education interventions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer AK declared a shared affiliation with the authors to the handling editor at the time of review., (© 2024 Saeidi, Ghavami, Shahsavari, Siabani and Rajati.)

Introduction: EAST/SeSAME syndrome is an ultra-rare disease characterized by seizures, epilepsy, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and arises due to deleterious variants disrupting the function of the KCNJ10 gene. In this study, we investigated the clinical symptoms and genetic cause of the disease in a 10-year-old Iranian girl who presented with neurological, hearing, and renal problems., Methods: Magnetic resonance imaging (MRI), electroencephalography (EEG), and laboratory tests were performed to evaluate the clinical characteristics of the proband. Distinctively, disease-causing variants were identified using whole-exome sequencing (WES). Subsequently, in-silico analysis was conducted to forecast the pathogenic potential of the identified variant. ClusPro 2.0 and GROMACS software were used for computational docking and molecular dynamic simulation (MDS), respectively. EEG findings revealed epileptic signs., Results: Brain MRI scan revealed no abnormalities. Through the application of WES, we detected a homozygous missense variant (NM&#95;002241.5, c.194G > A, p.R65H) in the KCNJ10 gene. Direct sequencing detected this variant in a heterozygous state in the proband's parents. Additionally, this variant was detected in the aborted fetus of the family in a homozygous state. Computational analysis predicted that this variant would cause disease. Protein-protein docking analysis revealed that the p.R65H mutation significantly affects the binding pattern between KCNJ10 and KCNJ16 proteins. MDS demonstrated that the p.R65H variant notably altered the KCNJ10 protein structure, flexibility, stability, and degree of compaction., Conclusion: The detection of this variant broadens the range of KCNJ10 gene mutations linked to EAST/SeSAME syndrome, emphasizing the critical role of genetic testing in diagnosing this condition., Competing Interests: Declarations. Ethical approval: Our investigation was carried out following the principles outlined in the Declaration of Helsinki, and we obtained permission from the Ethics Committee of Kerman Medical University (Ethics code: IR.KMU.REC.1397.376). Consent to participate: Consent documents were obtained from adult participants to participate in the study. We obtained written informed consent from parents/guardians/next of kin for all participants aged under 18. Consent for publication: Written informed consent was obtained from the parent/legal guardian of the patients for publication of the details of their medical care and any accompanying images presented in this manuscript. Conflict of interest: The authors declare that they have no financial and non-financial competing interests., (© 2024. Fondazione Società Italiana di Neurologia.)

The microalgal have an essential role in agriculture, where they are used as biofertilizers. This study aimed to determine the effect of C. vulgaris extract on the chemical composition and biological activities of the Essential Oil (EO) of Mentha spicata. The extract of C. vulgaris was prepared and applied at three different concentrations (50, 75, and 100 %). The EOs of M. spicata were analyzed by gas chromatography-mass spectrometry (GC-MS). The DPPH radical scavenging capability and Ferric Reducing Antioxidant Power (FRAP) techniques were used to assess the antioxidant activity of EOs. The antimicrobial activity of EO was evaluated using the microdilution method against Staphylococcus aureus . The results of GC-MS analysis of EOs identified 46 components, with Carvone (77.5-65.4 %), Limonene (10.31-6.9 %), β-elemene (1.56-0.98 %), and Caryophyllene (10.92-4.77 %) being the predominant constituents. From the highest concentration ranged from 100 % C. vulgaris extract to control respectively, yield and EO content ranged from 171.24 to 131.74 g/m2 and 0.34 to 0.18 %, respectively; Antioxidant activity by DPPH and FRAP methods varied from 1.56 to 4.45 mg/mL, and 405.63 to 68.68 μMFe2+/g, respectively; the Minimum Inhibitory Concentrations (MIC) ranged from 2.4 to 9.6 mg/mL in various treatments. The results indicated that the C. vulgaris extract significantly increased the yield, EO%, Carvone, Limonene, and antioxidant and antibacterial activities compared to the control. The extract of C. vulgaris showed promise as a biofertilizer to enhance the yield, chemical composition, and biological activities of M. spicata ., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Background: Nephronophthisis-4 (NPHP4) is an inherited renal ciliopathy described by renal fibrosis and progressive impairment of kidney function. This study aimed to investigate the genetic basis and clinical manifestations of NPHP4 in two Iranian siblings., Methods: The proband was a 27-year-old male with features of end-stage renal disease, including anemia, uremia, polyuria, and polydipsia. It is worth mentioning that he has a 22-year-old sister with a similar presentation. Clinical diagnosis procedures, such as renal biopsy, brain imaging, blood and urine tests, cardiac evaluation, ophthalmic inspection, and auditory function assessment, were carried out to evaluate organ involvement and potential comorbidities. Whole-exome sequencing (WES) and segregation analysis were performed to identify and confirm genetic variants associated with the condition. Computational variant analysis was conducted to evaluate the pathogenicity of the candidate variant. Furthermore, the SWISS-MODEL server was utilized for protein modeling., Results: The brain, cardiac, ocular, and auditory functions were normal. Renal biopsy of the proband showed chronic interstitial inflammation and fibrosis. We found a novel homozygous 7-base pair deletion (c.2999&#95;3005delTGTGTGT/ p.Asn1000SerfsTer4) in exon 21 of NPHP4 by WES. Segregation analysis confirmed homozygosity for the NPHP4 variant in affected individuals and heterozygous carrier status in parents, supporting autosomal recessive inheritance. 3D protein modeling indicated significant structural changes due to the variant., Conclusion: This study expands the genetic causes and phenotypic spectrum of nephronophthisis-4 and reveals the importance of genetic analysis in diagnosing and managing rare inherited kidney disorders, particularly those involving consanguinity., (© 2024 The Author(s). Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Background: Coronary artery disease (CAD) is a devastating illness and a leading cause of death worldwide, primarily caused by atherosclerosis resulting from a genetic-environmental interaction. This study aimed to investigate the relationship between the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) polymorphisms, lipid profile parameters, and CAD risk in a southeast Iranian population., Methods: A total of 400 subjects (200 CAD patients with hyperlipidemia and 200 healthy controls) were enrolled in this case-control study. Five selected polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique., Results: For all single nucleotide polymorphisms (SNPs), the population under study was in the Hardy-Weinberg equilibrium. The T-risk allele frequency of rs2228570 was associated with an increased risk of CAD. The TT and CT genotypes of rs2228570 had also been associated with the risk of CAD. Additionally, the TT genotype was associated with higher serum low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) levels. The GG genotype of the rs3736234 was associated with higher body mass index (BMI) and triglyceride (TG) levels, and the AA genotype of the rs708272 was associated with higher HDL-c levels. Based on these findings, we propose that the VDR (rs2228570) polymorphism was associated with serum HDL-c and LDL-c levels and may serve as potential risk factors for CAD within the Iranian population. Moreover, rs3736234 and rs708272 influence the concentrations of TG and HDL-c, respectively., Conclusion: These findings provided insights into the complex interplay between genetic variations, cardiovascular risk, and lipid metabolism., (© 2024 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Introduction: The apolipoprotein E ( APOE ) genotype has a heterogeneous distribution throughout the world. The present study aimed to characterize the APOE genotype ( rs429358 , rs7412 ) in healthy individuals compared with Alzheimer cases in Kerman, southeastern Iran, by two standard mutation scanning methods., Methods: In this case-control study, 90 Alzheimer patients as a case group and 90 healthy individuals as a control group were examined. APOE genotyping was carried out using high-resolution melting (HRM) analysis assay and multiplex tetra-primer amplification-refractory mutation system polymerase chain reaction (T-ARMS PCR) techniques., Results: In contrast to Multiplex T-ARMS PCR, HRM analysis was not efficient in rs7412 genotyping. The results of multiplex T-ARMS showed that ɛ2ɛ3 genotype (P=0.006, odd ratio [OR]=0.119) and ɛ2 allele (P=0.004, OR=0.129) were more prevalent in the control group compared with the case ones, whereas ɛ4 allele was associated with borderline risk of Alzheimer disease (P=0.099, OR=1.76)., Conclusion: We concluded that Multiplex T-ARMS PCR could be considered as a better option than HRM analysis for APOE genotyping in terms of speed, accuracy, simplicity, and cheapness in large-scale use. Also, the present study revealed that ɛ2 ɛ3 genotype and ɛ2 allele are protective against Alzheimer whereas the ɛ4 allele cannot be strongly considered as Alzheimer genetic risk factor in Kerman, Iran. The results may help to choose a better technique for APOE genotyping., (Copyright© 2024 Iranian Neuroscience Society.)

Background: Vitamin D is a neuroactive steroid that carries out its biological functions through the vitamin D receptor (VDR). The VDR gene interacts with certain long noncoding RNAs (lncRNAs). The present study is aimed at evaluating the expression levels of the VDR gene as well as those of HOTAIR, H19, MALAT1, and P21 lncRNAs in patients with relapsing-remitting multiple sclerosis (RRMS)., Methods: This research was conducted on 38 RRMS patients and 38 healthy individuals. The expression levels of VDR and selected lncRNAs in peripheral blood as well as those of vitamin D in the plasma were measured., Results: The results revealed a significant increase in the expression of lncRNA H19 in the RRMS group compared to the control group. The analysis of the receiver operating characteristic (ROC) curve for H19 gene expression demonstrated a diagnostic value of 0.699 (95% CI: 0.575-0.823). Positive correlations were detected between VDR and lncRNA HOTAIR (r = 0.446, p = 0.008), H19 (r = 0.351, p = 0.042), MALAT1 (r = 0.464, p = 0.006), and P21 (r = 0.512, p = 0.002) in MS patients., Conclusion: The findings of this study suggest that lncRNA H19 could serve as a potential biomarker for MS diagnosis (Tab. 4, Fig. 1, Ref. 34).

Background and Aims: Coronary artery disease (CAD) is a devastating illness and primary cause of death worldwide that arises from a combination of genetic and environmental factors. Several large-scale studies found that 9p21.3, superoxide dismutase 2 (SOD2), and paraoxonase 1 (PON1) polymorphisms increase type 2 diabetes mellitus (T2DM) and/or coronary artery disease (CAD) risk. Our research aimed to investigate whether the SNPs of the 9p21.3 locus (rs28911698), SOD2 (rs4880), and PON1 (rs662) genes were associated with the risk of T2DM and/or CAD in the Iranian population., Methods: In this case-control study four group subjects including patients with CAD non-T2DM, with CAD and T2DM, non-CAD with T2DM, and non-CAD non-T2DM were recruited to the study from 2019 to 2020. Molecular analysis was carried out by allele specific-polymerase chain reaction (AS-PCR) technique for rs4880, Taqman genotyping assay for rs2891168, and PCR followed by restriction fragment length polymorphism (PCR-RFLP) technique for rs662., Results: The rs2891168 polymorphism presented an elevated risk of CAD in non-T2DM with CAD and with T2DM CAD groups compared to the non-T2DM non-CAD group with GG genotype and dominant model after adjustment ( p  < 0.05). G-allele in PON1 rs662 polymorphism associated with increased risk of T2DM in T2DM non-CAD, and T2DM CAD groups compared to non-T2DM non-CAD group with dominant model, GG and AG genotypes ( p  < 0.05). However, SOD2 rs4880 polymorphism presented no significant association with the development of diabetes or CAD., Conclusion: These results provide a prime witness that rs2891168 and rs662 gene variants might have a possible increased risk of CAD and T2DM occurrence, respectively. To obtain more definitive and accurate results in this area, further research is required., Competing Interests: The authors declare no conflict of interest., (© 2023 The Authors. Health Science Reports published by Wiley Periodicals LLC.)

Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings. Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed in all subjects, and seizures and spastic quadriplegia in most. Common findings on brain imaging include cerebral atrophy, ex vacuo ventricular dilatation, brainstem volume loss, and symmetric under-opercularization. El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in microcephaly, developmental delay, spastic quadriplegia, and seizures. The phenotype appears to be more severe among individuals with loss-of-function variants whereas those with missense variants were less severely affected suggesting a potential genotype-phenotype correlation in this disorder. A brain imaging pattern emerges which is consistent among individuals with loss-of-function variants and could potentially alert the neuroradiologists or clinician to consider WDR45B-related El-Hattab-Alkuraya syndrome., (© 2022 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)

Recent genome-wide association studies reported the association of polymorphic alleles of PHACTR1 (rs9349379 (G)), CDDKN2B-AS1 (rs2891168 (G)), COL4A2 (rs11838776 (A)) and SOD2 (rs4880 (T)) with increased risk of coronary artery disease (CAD). The aim of our study was to assess the association of genetic variants with risk of CAD and its severity and in Southeast Iranian population. This study was examined in 250 CAD-suspected patients (mean age 53.49 ± 6.9 years) and 250 healthy individuals (mean age 52.96 ± 5.9 years). The Taqman SNP genotyping assay was used for genotyping of rs9349379 and rs2891168 variants. Tetra-primer Amplified refractory mutation system-PCR (Tetra-primer ARMS-PCR) was employed for rs11838776 and rs4880. Multivariate logistic regression analyses indicated that the G allele of rs9349379 and rs2891168 were associated with increased risk of CAD. The GG homozygous genotype of rs9349379 and rs2891168 had also been associated with risk of CAD. Additionally, the AG genotype of rs2891168 was associated with CAD. The significance of association of rs2891168 (G, GG, AG) increases with severity of CAD; but the rs9349379 (G, GG) have shown reverse association with severity of CAD. The genetic variants of COL4A2 (rs11838776) and SOD2 (rs4880) reflected no association with CAD in Southeast Iranian population. The findings of this study revealed that the PHACTR1 (rs9349379) and CDKN2B-AS1 (rs2891168) genetic variants might serve as genetic risk factor in CAD., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum. The variants include three homozygous missense variants (p.Pro852Ala, p.Arg244Trp, and p.Arg299Gly), three compound heterozygous single-nucleotide variants (p.Arg673Gln/p.Val488Val, p.Phe734Ser/p.Ala327Val, and p.Trp220Cys/p.Asp491Val), one homozygous frameshift variant (p.Cys553Leufs ∗ 16), and one homozygous stop-gain variant (p.Arg440Ter). To support the pathogenicity of the variants, we developed a novel CRISPR-Cas9-mediated tissue-specific knockout with cDNA rescue system for dOgdh, the Drosophila ortholog of human OGDHL. Pan-neuronal knockout of dOgdh led to developmental lethality as well as defects in Krebs cycle metabolism, which was fully rescued by expression of wild-type dOgdh. Studies using the Drosophila system indicate that p.Arg673Gln, p.Phe734Ser, and p.Arg299Gly are severe loss-of-function alleles, leading to developmental lethality, whereas p.Pro852Ala, p.Ala327Val, p.Trp220Cys, p.Asp491Val, and p.Arg244Trp are hypomorphic alleles, causing behavioral defects. Transcript analysis from fibroblasts obtained from the individual carrying the synonymous variant (c.1464T>C [p.Val488Val]) in family 2 showed that the synonymous variant affects splicing of exon 11 in OGDHL. Human neuronal cells with OGDHL knockout exhibited defects in mitochondrial respiration, indicating the essential role of OGDHL in mitochondrial metabolism in humans. Together, our data establish that the bi-allelic variants in OGDHL are pathogenic, leading to a Mendelian neurodevelopmental disease in humans., Competing Interests: Declaration of interests I.H. serves on the Scientific Advisory Board of Biogen. A.R. is an employee of GeneDx. The remaining authors declare no competing interests., (Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Cohen syndrome is caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2. The VPS13B protein is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Clinical manifestations of Cohen syndrome are mainly intellectual disability, developmental delay, facial abnormalities, and eye disorders. This study aimed to identify the causative variant in two unrelated families with Cohen syndrome. To this end, whole-exome sequencing (WES) was performed to identify the pathogenic variants. A homozygous nonsense variant (NM&#95;017890:c.10369C > T; NP&#95;060360.3: p.Q3457X) in the VPS13B gene was identified and co-segregated with all affected individuals in both families. In silico analysis highly suggested this variant as damaging for protein function. The present study increases the mutation spectrum of the VPS13B gene and could be useful in genetic diagnosis and genetic counseling in Cohen syndrome patients., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo., Methods: Through international collaboration, we identified 22 affected individuals from 16 unrelated families harboring biallelic likely pathogenic or pathogenic in KARS1 variants. Sequencing approaches ranged from disease-specific panels to genome sequencing. We generated loss-of-function alleles in zebrafish., Results: We identify ten new and four known biallelic missense variants in KARS1 presenting with a moderate-to-severe developmental delay, progressive neurological and neurosensory abnormalities, and variable white matter involvement. We describe novel KARS1-associated signs such as autism, hyperactive behavior, pontine hypoplasia, and cerebellar atrophy with prevalent vermian involvement. Loss of kars1 leads to upregulation of p53, tissue-specific apoptosis, and downregulation of neurodevelopmental related genes, recapitulating key tissue-specific disease phenotypes of patients. Inhibition of p53 rescued several defects of kars1 -/- knockouts., Conclusion: Our work delineates the clinical spectrum associated with KARS1 defects and provides a novel animal model for KARS1-related human diseases revealing p53 signaling components as potential therapeutic targets., (© 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.)

Aim: The present research was conducted to investigate the effect of plant growth-promoting rhizobacteria (PGPR) and deficit irrigation on quality and quantity of flax under field and pot conditions to determine bacterial efficiency and to decrease water deficit effects., Methods and Results: Initially, in vitro experiments were performed to determine the growth-promoting characteristics of bacteria. Then in the field, the effects of bacterial inoculation (control, Azotobacter chroococcum, Azospirillum lipoferum, Bacillus amyloliquefaciens, Bacillus sp. strain1 and Pseudomonas putida) on flax traits were evaluated at different irrigation levels (100, 75 and 50% crop water requirement). Bacterial treatments in the pot experiment were selected based on the field experiment results. The irrigation regimes in the pot and field experiments were the same and bacterial treatments included single, doublet and triplet applications of the bacteria. All the bacterial strains could solubilize phosphate, produce ammonia (except for Bacillus sp. strain1), indole acetic acid and siderophore (except P. putida). Field results indicated that the bacteria significantly mitigated the effects of water deficit. Compared with control plants, bacterial treatments increased the oil, linolenic acid, protein and sulphur content; the number of shoots and capsules; and the harvest index in the flax plants. Pot experimental results revealed that the combined inoculations were more effective than single inoculum treatments., Conclusions: Bacterial inoculation alleviates deficit irrigation effects in flax plants., Significance and Impact of the Study: The effectiveness of applying A. chroococcum, B. amyloliquefaciens and Bacillus sp. strain1 was confirmed, especially as a combination to protect flax against water deficit and to improve its nutritional quality and growth., (© 2020 The Society for Applied Microbiology.)

Background: Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50-60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance. Methods: In our study, we used our targeted custom MiamiOtoGenes panel of 180 HL-associated genes to screen 23 unrelated consanguineous Iranian families with at least two affected children to identify potential causal variants for HL. Results: We identified pathogenic variants in seven genes ( MYO7A, CDH23, GIPC3, USH1C , CAPB2, LOXHD1, and STRC ) in nine unrelated families with varying HL profiles. These include five reported and four novel mutations. Conclusion: For small consanguineous families that were unsuitable for conventional linkage analysis the employment of the MiamiOtoGenes panel helped identify the genetic cause of HL in a cost-effective and timely manner. This rapid methodology provides for diagnoses of a significant fraction of HL patients, and identifies those who will need more extensive genetic analyses such as whole exome/genome sequencing.

Background: β -thalassemia is characterized by reduced synthesis of the hemoglobin beta chain that results in microcytic hypochromic anemia and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. β -thalassemias are caused by mutations in the β -globin gene, inherited in an autosomal recessive manner. Determining molecular defects in couples carrying β -thalassemia is a prerequisite for prenatal diagnosis of the disease. In this regards, database of β -globin gene haplotypes facilitates mutation detection of the gene and helps genetic counselors to reach the goals of β -thalassemia prevention program., Methods: In this cross-sectional study, 255 couples attended genetic counseling between December 2017 and January 2019 in Afzalipour Hospital, Kerman University of Medical Scinces, Kerman, Iran as suspicious of β- thalassemia carriers. Furthermore, they were investigated using amplification refractory mutations system-polymerase chain reaction and restriction fragment length polymorphism methods for mutation screening and haplotype analysis of polymorphic sites in β -globin gene cluster, respectively., Results: We identified 20 different types of β -globin gene mutation in 449 β -thalassemia carriers. Analysis of the pattern of Hind III/Gγ, Hinf I/5' β , Hinc II/3'Ψ β , Rsa I/5' β , AvaII/ β and Hind III/Aγ polymorphic sites in 257 alleles of informative families revealed 17 different haplotypes. Haplotype 1 (77.24%) showed strong linkage with the most common mutation IVSI-5 while haplotype 5 (66.67%) was associated with the second frequent mutation IVSII-1., Conclusion: To our knowledge, these β -globin haplotypes are reported for the first time which are different with those found in other parts of Iran. The current haplotypes pattern data makes the counseling of β -thalassemia carriers more straightforward and the process of mutation screening faster and more accurate., Competing Interests: Conflict of interests The authors declare that there is no conflict of interests., (Copyright © Iranian Public Health Association & Tehran University of Medical Sciences.)

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs., Objective: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families., Results: We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly., Conclusion: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.)

MicroRNAs (miRNAs, miRs) are small regulatory non-coding RNAs that regulate gene expression by incomplete complementary attachment to the 3'UTR, 5'UTR, ORF and promoter regions of target mRNAs. We compared plasma levels of miR-210-3p and miR-517c-3p as cell-free microRNAs (cfmiRNAs) in preeclamptic (n = 20) and healthy women (n = 20). These miRs are responsible for cell growth and proliferation, placental hypoxia, immune response and apoptosis. We found higher expression levels of miR-210 and miR-517c in preeclamptic cases (+3.34 and +2.27 fold change, respectively). This is the first study that evaluates the plasma levels of miR-517c in preeclamptic cases by real time PCR (RT-PCR) technique. This study can lead to new opportunities for research about the roles of miRNAs in preeclampsia etiology or new biomarkers., (Copyright © 2019 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.)

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS) which predominantly affect young adults and undergo heavy socioeconomic burdens. Conventional therapeutic modalities for MS mostly downregulate aggressive immune responses and are almost insufficient for management of progressive course of the disease. Mesenchymal stem cells (MSCs), due to both immunomodulatory and neuroprotective properties have been known as practical cells for treatment of neurodegenerative diseases like MS. However, clinical translation of MSCs is associated with some limitations such as short-life engraftment duration, little in vivo trans-differentiation and restricted accessibility into damaged sites. Therefore, laboratory manipulation of MSCs can improve efficacy of MSCs transplantation in MS patients. In this review, we discuss several novel approaches, which can potentially enhance MSCs capabilities for treating MS., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Calmodulin-binding transcription activators (CAMTAs) are a family of transcription factors that play an important role in plants' response to the various biotic and abiotic stresses. The common bean ( Phaseolus vulgaris L.) is one of the most important crops in the world and plays a pivotal role in sustainable agriculture. To date, the composition of CAMTA genes in genomes of Phaseolus species and their role in resistance to drought stress are not known. In this study, five PhavuCAMTA genes were characterized in common bean genome through bioinformatics analysis, the morphological and biochemical response of 23 Ph.vulgaris genotypes to different levels of drought stress were evaluated and the expression patterns of PhCAMTA1 in the leaf tissues of sensitive and tolerant genotypes were analysed. Gene structure, protein domain organization and phylogenetic analyses showed that the CAMTAs of Phaseolus were structurally similar and clustered into three groups as other plant CAMTAs. Genotypes showeda differential response to drought stress. Thus, the plant height, number of nodes and flower, total chlorophyll and total protein content, and activity of antioxidant enzymes (ascorbate peroxidase and catalase) in plants significantly influenced by genotype and drought stress interaction. Moreover, the resistant and susceptible genotypes were identified according to three-dimensional plots and the expression patterns of PhavuCAMTA1 gene were studied using real-time quantitative polymerase chain reaction. The results of the present study serve as the basis for future functional studies on the Phaseolus CAMTA family.

Aims: Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of FUCA1 gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family from Iran, including two probands and nine family members., Methods: DNA sample of two probands were screened for gene defects using a next generation sequencing technique. The sequencing processes were performed on an Illumina Hiseq 4000 platform. Sequence reads were analysed using BWA-GATK., Results: Next generation sequencing revealed a frameshift mutation caused by 2 bp deletion (c.837&#95;838 delTG; p.Cys279) in the FUCA1 gene. The identified mutation was tested in all participants. Homozygous patients had almost all the complications associated with fucosidosis, while heterozygous carriers were unaffected., Conclusions: The variant c.837&#95;838 delTG; p.Cys279 has not been reported previously and is predicted to be pathogenic due to a premature stop codon., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Objectives: Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutation in the Ataxia telangiectasia mutated (ATM) gene. This disorder is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency and a predisposition to leukemia/lymphoma. In this study, we investigated a family with a new mutation in ATM, confirmed by molecular genetic test., Materials&methods: Four members of a family including a symptomatic AT patient, his parents and sibling were examined for ATM gene defects at Kerman University Hospital, Kerman, Iran in 2016. DNA was extracted from peripheral leukocytes and the coding regions and exon-intron boundaries of ATM gene were amplified by next-generation sequencing technique. The identified mutation was tested in all members of the family., Results: Molecular analyses identified a homozygous T to G substitution in c.7308-6 position resulting in a novel acceptor splice site in intron 49 of the ATM gene in the index patient. Parents and sibling of the proband were heterozygous for the same mutation., Conclusion: The variant c.7308-6T>G is predicted to be pathogenic due to impaired splice site causing exon skipping. This newly found frameshift mutation cosegregated as an autosomal recessive trait as expected for Ataxia telangiectasia syndrome., Competing Interests: The authors declare that there is no conflict of interest.

Stainless steel 316 L prepared by laser melting consisted of a hierarchical austenitic microstructure with micrometre-sized (10-25 µm) grains containing fine 1 µm subgrains with a cellular structure. At high-temperature thermal treatments (greater than or equal to 1100°C), merging and growth of the 1 µm subgrains into bigger subgrains restricted the rapid grain growth and microstructure coarsening. Partial phase transformation of austenite to ferrite at temperatures greater than or equal to 1100°C, in combination with gradual and steady growth of subgrains inside the micrometre-sized grains and nucleation of the sigma phase, has promoted the tensile strength of stainless steel 316 L to 300 MPa at 1100°C compared with that of conventionally made 316 L counterparts (approx. 40 MPa). The grain growth mechanism of the laser-melted microstructure can change the application criteria for 316 L and expand the application fields for 316 L., Competing Interests: We have no competing interests.

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A) . The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.

Iran supports a great share of exotic and/or endemic plant genera and species. The genus Fritillaria (Liliaceae) is a precious part of this botanical richness with 19 species, of which 10 are endemic to the country. However, signs are mounting that the country is truly at a crossroads when it comes to preservation of this national wealth. In this regard, an effective conservation strategy should thoroughly consider the classification of Fritillaria , as conservation practices are compromised by knowledge gaps in systematics and taxonomy. As published studies on Fritillaria in Iran have been sporadic and limited in scope, the aim of this review is to provide information necessary to help bridge these information gaps. Our objective is to facilitate increased understanding of the geographic, taxonomic, cytogenetic and phylogenetic status of Iranian Fritillaria , which is vital to meeting the goal of sustainable conservation of the genus in Iran and neighboring areas.

Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by increased production of mature blood cells. Philadelphia chromosome-negative MPNs (Ph-MPNs) consist of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). A number of stem cell derived mutations have been identified in the past 10 years. These findings showed that JAK2V617F, as a diagnostic marker involving JAK2 exon 14 with a high frequency, is the best molecular characterization of Ph-MPNs. Somatic mutations in an endoplasmic reticulum chaperone, named calreticulin (CALR), is the second most common mutation in patients with ET and PMF after JAK2 V617F mutation. Discovery of CALR mutations led to the increased molecular diagnostic of ET and PMF up to 90%. It has been shown that JAK2V617F is not the unique event in disease pathogenesis. Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc finger 1 (IKZF1), DNA methyltransferase 3A (DNMT3A), suppressor of cytokine signaling (SOCS), enhancer of zeste homolog 2 (EZH2), tumor protein p53 (TP53), runt-related transcription factor 1 (RUNX1) and high mobility group AT-hook 2 (HMGA2) have also identified to be involved in MPNs phenotypes. Here, current molecular biology and genetic mechanisms involved in MNPs with a focus on the aforementioned factors is presented., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)