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Genetic Characterisation of Pantothenate Kinase Associated Neurodegeneration (PKAN) in a Consanguineous Family from Jammu and Kashmir India 印度查谟和克什米尔一个近亲家族泛酸激酶相关神经变性(PKAN)的遗传特征
IF 0.1 4区 生物学 Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.828
Swarkar Sharma
Pantothenate kinase-associated neurodegeneration (PKAN), a rare neurological disorder occurs by variation(s) in the PANK2 (Pantothenate kinase 2) gene and is linked to iron accumulation in the basal ganglia. The researchers have carried out targeted gene sequencing of all exons of PANK2 in a patient with suspected phenotype of PKAN. A missense variant in exon 6 of PANK2 gene (NM_153638.3:c.1583C>T,NP_705902.2:p.Thr528Met) has been identified in the patient. Further, sequencing of the exon in extended consanguineous family showed autosomal recessive mode of inheritance in the family. It is emphasised that inclusion of molecular diagnostics in clinical evaluation procedures of potential genetic or uncharacterised abnormalities is critical especially if the family has known history of high consanguinity. It is anticipated to provide effectively, such families with access to a variety of genetic counselling programmes, thus reducing illness burden in the affected family.
泛酸激酶相关神经变性(PKAN)是一种罕见的神经系统疾病,由PANK2(泛酸激酶2)基因变异引起,与基底节区铁积累有关。研究人员对一名疑似PKAN表型患者的PANK2的所有外显子进行了靶向基因测序。在患者中发现了PANK2基因外显子6的错义变异(NM_153638.3:c.1583C>T,NP_705902.2:p.Thr528Met)。此外,外显子测序在扩大的近亲家庭显示常染色体隐性遗传模式的家庭。需要强调的是,在潜在遗传或非特征性异常的临床评估程序中纳入分子诊断是至关重要的,特别是如果家族有已知的高血缘史。预期将有效地为这些家庭提供各种遗传咨询方案,从而减轻受影响家庭的疾病负担。
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引用次数: 0
Roles of Long Non-coding Ribonucleic Acid X Inactive Specific Transcript/microRNA-29a/phosphatase and Tensin Homolog Deleted on Chromosome Ten Pathway in Osteogenic Differentiation of Bone Marrow Mesenchymal Stem Cells and Postmenopausal Osteoporosis 长非编码核糖核酸X无活性特异性转录物/microRNA-29a/磷酸酶和10号染色体通路上张力素同源物缺失在骨髓间充质干细胞成骨分化和绝经后骨质疏松中的作用
IF 0.1 4区 生物学 Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.803
Jian Liu
The researchers aimed to inquire into the roles of long non-coding ribonucleic acid X inactive specific transcript/microRNA-29a/phosphatase and tensin homolog deleted on chromosome ten (lncRNA-XIST/miR-29a/ PTEN) pathway in the osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) and postmenopausal osteoporosis (PMOP). In the miR-29a + Lenti-NC group, ALP activity, concentration of alizarin red, and mRNA and protein expressions of Runx2, OPN and OCN significantly increased, whereas the mRNA and protein expressions of LPL, AP-2 and leptin decreased (P<0.05). In contrast with the miR-29a + Lenti-NC group, miR-29a + Lenti-XIST and miR-29a + Lenti-PTEN groups had decreased ALP activity, concentration of alizarin red, and mRNA and protein expressions of Runx2, OPN and OCN, but increased mRNA and protein expressions of LPL, AP-2 and leptin (P<0.05). BMSCs have incremental expressions of lncRNA-XIST and PTEN and a declined expression of miR-29a. LncRNAXIST suppresses the osteogenic differentiation of BMSCs by feat of the miR-29a/PTEN pathway.
研究人员旨在探讨长链非编码核糖核酸X失活特异性转录物/microRNA-29a/磷酸酶和10号染色体上缺失的紧张素同源物(lncRNA-XIST/miR-29a/ PTEN)通路在骨髓间质干细胞(BMSCs)成骨分化和绝经后骨质疏松症(PMOP)中的作用。miR-29a + lentic - nc组ALP活性、茜素红浓度及Runx2、OPN、OCN mRNA和蛋白表达量显著升高,LPL、AP-2、leptin mRNA和蛋白表达量显著降低(P<0.05)。与miR-29a + lentii - nc组相比,miR-29a + lentii - xist、miR-29a + lentii - pten组ALP活性、茜素红浓度、Runx2、OPN、OCN mRNA及蛋白表达均降低,LPL、AP-2、leptin mRNA及蛋白表达升高(P<0.05)。骨髓间质干细胞lncRNA-XIST和PTEN的表达增加,miR-29a的表达下降。LncRNAXIST通过miR-29a/PTEN途径抑制BMSCs的成骨分化。
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引用次数: 0
1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) Induces Cell Apoptosis of Human Mesangial Cells 1,25-二羟基维生素D3(1,25-(OH)2D3)诱导人系膜细胞凋亡
IF 0.1 4区 生物学 Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.821
Chunjian Zhang
In China, primary glomerulonephritis is the leading cause of end-stage renal disease (ESRD), and patients who require kidney transplantation often with ESRD. Glomerulonephritis primary’s most prevalent subtype is Mesangial proliferative glomerulonephritis (MsPGN). Although the cell apoptosis of human mesangial cells (HMCs) may be harmful in MsPGN, it plays a major role in the elimination of excessive HMCs and reparative glomerular remodelling after inflammation. A powerful mitogen for growing mesangial cells is epidermal growth factor (EGF). Therefore, it is possible to induce the proliferation of HMCs by incubating with EGF in vitro. 1,25(OH)2D3(VD3) may cause cell death in HMCs via activating AKT, caspase-3, caspase-9, JNK, and ERK, as well as elevating Bax and Bad levels.
在中国,原发性肾小球肾炎是终末期肾病(ESRD)的主要原因,需要肾移植的患者往往伴有ESRD。原发性肾小球肾炎最常见的亚型是系膜增生性肾小球肾炎(MsPGN)。虽然人系膜细胞(HMCs)的细胞凋亡在MsPGN中可能是有害的,但它在消除过量的HMCs和炎症后的修复性肾小球重塑中起着重要作用。一个强大的分裂原生长系膜细胞是表皮生长因子(EGF)。因此,体外培养EGF诱导hmc增殖是可能的。1,25(OH)2D3(VD3)可能通过激活AKT、caspase-3、caspase-9、JNK和ERK,以及升高Bax和Bad水平而导致hmc细胞死亡。
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引用次数: 0
MicroRNA-584-5p Restrains the Viability of Lung Cancer Cells through Targeting DPY30 Directly MicroRNA-584-5p通过直接靶向DPY30抑制肺癌细胞活力
IF 0.1 4区 生物学 Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.818
Jing Su
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引用次数: 0
Pluripotent Stem Cells – Potential Uses in the Pharmaceutical Field 多能干细胞-在制药领域的潜在用途
IF 0.1 4区 生物学 Pub Date : 2022-06-15 DOI: 10.31901/24566330.2022/22.03.820
A. I. Femeela
The cells can divide and differentiate into several types of cells in an organism. It is not able to differentiate as the extraembryonic tissues, which are termed as the ‘pluripotent cells’. The transcription factors such as, SOX-2, C-MYC, OCT-4 and KLF-4 are involved in the maintenance of pluripotency. Pluripotent stem cells (PSCs) can self-renewal cells, which may be either induced pluripotent stem cells (iPSCs) or embryonic stem cells (ESCs). Pluripotent cells can be used in the treatment of diseases like cancer, cosmetics and the healing of skin burns. The current review majorly focuses on the PHCs along with their history, their molecular markers and major transcription factors in a brief manner. The techniques including sensors and assays used for the assessment of pluripotency have also been discussed.
在生物体中,细胞可以分裂并分化为几种类型的细胞。它不能像胚胎外组织那样分化,胚胎外组织被称为“多能干细胞”。转录因子如SOX-2、C-MYC、OCT-4和KLF-4参与多能性的维持。多能干细胞(PSC)可以是自我更新的细胞,其可以是诱导多能干细胞或胚胎干细胞。多能细胞可用于治疗癌症、化妆品和皮肤烧伤等疾病。目前的综述主要集中在PHC及其历史、分子标记物和主要转录因子方面。还讨论了用于评估多能性的技术,包括传感器和测定。
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引用次数: 0
Hyperoside Facilitates Gastric Cancer (GC) Cell Apoptosis and Inhibits Viability via NF-κB/PTEN/JAK2 Pathway 金丝桃苷通过NF-κB/PTEN/JAK2通路促进胃癌细胞凋亡及抑制细胞活力
IF 0.1 4区 生物学 Pub Date : 2022-06-15 DOI: 10.31901/24566330.2022/22.03.819
Bo Shu
This study investigated impacts of hyperoside on viabilities and apoptosis of gastric cancer (GC) cells. CCK-8 and flow cytometry were applied for examining HGC-27 cell viabilities and apoptosis, indicating that hyperoside treatment suppressed cell viabilities but facilitated cell apoptosis. Additionally, RT-qPCR results revealed that mRNA expressions of Bcl-2 in HGC-27 cells were downregulated while Bax and caspase-3 were elevated with hyperoside treatment. Furthermore, ELISA examined changes about protein concentrations of NF-κB/PTEN/JAK signalling pathway in HGC-27 cells after being treated by hyperoside. Results showed that protein concentrations of phosphorylated NF-κB/ p65 were reduced with hyperoside treatment while PTEN and JAK2 protein concentrations were promoted.
本研究探讨金丝桃苷对胃癌细胞活力和凋亡的影响。采用CCK-8和流式细胞术检测HGC-27细胞活力和凋亡,结果表明金丝桃苷处理抑制了细胞活力,但促进了细胞凋亡。RT-qPCR结果显示,金丝桃苷处理后,HGC-27细胞中Bcl-2 mRNA表达下调,Bax和caspase-3 mRNA表达升高。此外,ELISA检测了金丝桃苷处理后HGC-27细胞NF-κB/PTEN/JAK信号通路蛋白浓度的变化。结果表明,金丝桃苷处理可降低磷酸化NF-κB/ p65蛋白浓度,提高PTEN和JAK2蛋白浓度。
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引用次数: 0
Research on Diagnosis and Prognosis of Cervical Cancer in FOXD1 宫颈癌FOXD1基因的诊断与预后研究
IF 0.1 4区 生物学 Pub Date : 2022-04-25 DOI: 10.31901/24566330.2022/22.03.810
Fang Liu
The aim of the present study was to investigate the diagnostic and prognostic value of FOXD1 in cervical carcinoma. 24 patients with cervical carcinoma were the sample for this study. Human cervical carcinoma cell lines (AV3, Hela229, CaSki and Hela cells) and cervical normal cell line (UVECs) were used in this study for vitro model. FOXD1 mRNA expression level was up-regulated in the tissue of cervical cancer, compared with paracancerous tissue group. FOXD1 mRNA expression level in I-II patients with cervical cancer was lower than those of III-IV patients with cervical cancer. Overall survival (OS) and disease-free survival (DFS) of FOXD1 high expression were lower than those of FOXD1 low expression. FOXD1 mRNA expression level was induced in cervical cancer cell lines, compared with UVECs cell. In conclusion, serum FOXD1 expression was the diagnostic and prognostic value for cervical carcinoma, and promotes cell growth and metastasis via Warburg effect by CTGF.
本研究的目的是探讨FOXD1在宫颈癌中的诊断和预后价值。24例宫颈癌患者为本研究的样本。本研究使用人宫颈癌细胞系(AV3、Hela229、CaSki和Hela细胞)和宫颈正常细胞系(UVEC)作为体外模型。与癌旁组织相比,宫颈癌症组织中FOXD1mRNA表达水平上调。癌症Ⅰ-Ⅱ期患者FOXD1mRNA表达水平低于癌症Ⅲ-Ⅳ期患者。FOXD1高表达组的总生存率(OS)和无病生存率(DFS)低于FOXD1低表达组。与UVECs细胞相比,FOXD1mRNA在宫颈癌症细胞系中的表达水平被诱导。总之,血清FOXD1的表达对宫颈癌具有诊断和预后价值,并通过CTGF的Warburg效应促进细胞生长和转移。
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引用次数: 0
CD200 as a Valuable Marker for Differentiating between CLL and Other B-cell Lymph Proliferative Disorders CD200作为区分CLL和其他B细胞淋巴增生性疾病的有价值标志物
IF 0.1 4区 生物学 Pub Date : 2022-04-25 DOI: 10.31901/24566330.2022/22.02.812
Noha Elnagdy
Chronic lymphocytic leukaemia (CLL) being the commonest subtype of mature B-cell lymphoid neoplasms need to be differentiated correctly from other B-chronic lymphoproliferative disorders (BCLPD). CD200 is being an essential marker for prognosis and diagnosis of CLL. Sixty patients diagnosed with BCLPD were evaluated for CD200 expression with eight-colour flow cytometry. An integration of modified Matutes score and CD200 were applied for CLL diagnosis. The overall immunophenotype of CLL patients in this study showed significant, frequent expression of CD5, CD22, CD23, CD43 and CD200. Atypical versus typical CLL patients’ phenotype comparison revealed significant lower expression of CD5 and CD43 with higher expression of CD79b in atypical CLL patients. CD200 was expressed significantly higher in CLL patients (typical and atypical) than in MCL patients who showed dim CD200 expression in only twenty-five percent of patients. The inclusion of CD200 within the diagnostic markers can empower the modified Matutes score accuracy for CLL.
慢性淋巴细胞白血病(CLL)是成熟B细胞淋巴肿瘤最常见的亚型,需要与其他B慢性淋巴增生性疾病(BCLPD)正确区分。CD200是CLL预后和诊断的重要标志物。用八色流式细胞术评估60例诊断为BCLPD的患者的CD200表达。将改良Matutes评分和CD200积分应用于CLL诊断。本研究中CLL患者的总体免疫表型显示CD5、CD22、CD23、CD43和CD200的显著、频繁表达。非典型和典型CLL患者的表型比较显示,非典型CLL患者CD5和CD43的表达显著较低,CD79b的表达较高。CD200在CLL患者(典型和非典型)中的表达显著高于MCL患者,后者仅在25%的患者中表现出微弱的CD200表达。CD200在诊断标记物中的包含可以增强CLL的改良Matutes评分准确性。
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引用次数: 0
MTHFR C677T Polymorphism and Risk of Acute Lymphoblastic Leukaemia in Mexican Population MTHFR C677T多态性与墨西哥人群急性淋巴细胞白血病的风险
IF 0.1 4区 生物学 Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.03.815
J. P. Meza-Espinoza
The C677T polymorphism of the MTHFR gene has been frequently associated with acute lymphoblastic leukaemia (ALL) around the world. Therefore, the objective of this study was to determine whether the MTHFR C677T polymorphism is associated with ALL in Mexican children and adults. A case-control study was conducted on 243 patients with ALL (136 children and 107 adults) and 379 healthy controls. Genotyping of the C677T polymorphism was performed by the polymerase chain reaction-restriction fragment length polymorphism method. The frequency of the T allele was forty-three percent, fifty-two percent, and forty-six percent in children, adults, and controls, respectively. No risk of ALL was found for T allele carriers in children [OR=0.81 (0.52-1.25), P=0.33], but an increased risk was detected in adults [OR=4.98 (2.24-11.10), P<0.001]. The findings in children agree with most of the studies but are discordant with those reported in adults. These differences could be due to ethnicity, genetic background, sampling, and methodology.
MTHFR基因的C677T多态性在世界各地经常与急性淋巴细胞白血病(ALL)相关。因此,本研究的目的是确定MTHFR C677T多态性是否与墨西哥儿童和成人的ALL相关。对243名ALL患者(136名儿童和107名成人)和379名健康对照进行了病例对照研究。用聚合酶链式反应-限制性片段长度多态性方法对C677T多态性进行基因分型。在儿童、成人和对照组中,T等位基因的频率分别为43%、52%和46%。儿童T等位基因携带者未发现ALL风险[OR=0.81(0.52-1.25),P=0.33],但成人的风险增加[OR=4.98(2.24-11.10),P<0.001]。儿童的研究结果与大多数研究一致,但与成人的研究结果不一致。这些差异可能是由于种族、遗传背景、抽样和方法造成的。
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引用次数: 0
Circular RNA TOP2A Promotes Apoptosis and Suppresses Cell Viability of Ox-LDL-induced HAEC Cells via Sponging MicroRNA-27a-3p 环状RNA TOP2A通过海绵MicroRNA-27a-3p促进ox - ldl诱导的HAEC细胞凋亡并抑制细胞活力
IF 0.1 4区 生物学 Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.03.816
Yi He
This study explored impacts of circular RNA TOP2A and miR-27a-3p on HAECs after ox-LDL treatment. RNA expressions of circRNA TOP2A and miR-27a-3p were assessed by RT-qPCR in normal and ox-LDL-treated HAECs, showing circRNA TOP2A was inhibited and miR-27a-3p was upregulated after ox-LDL treatment. HAECs viabilities were promoted by ox-LDL treatment but overexpressed circRNA TOP2A suppressed the cell viability. Moreover, Ki-67 protein expression was downregulated while cleaved caspase-3 was inhibited. MiR-27a-3p was then confirmed to be sponged and suppressed by circRNA TOP2A while miR-27a-3p mimics promoted its expression. Additionally, decreased cell viability caused by overexpressed circRNA TOP2A was also reversed by miR-27a-3p overexpression. Furthermore, downregulated Ki-67 and increased cleaved caspase-3 protein expressions caused by circRNA TOP2A upregulation were also restored by overexpressed miR-27a-3p, resulting in promoted Ki-67 and decreased cleaved caspase-3.
本研究探讨了ox-LDL处理后环状RNA TOP2A和miR-27a-3p对haec的影响。通过RT-qPCR检测正常和ox-LDL处理的haec中circRNA TOP2A和miR-27a-3p的RNA表达,结果显示ox-LDL处理后circRNA TOP2A被抑制,miR-27a-3p上调。ox-LDL处理可促进haec的活力,但过表达的circRNA TOP2A抑制了细胞活力。Ki-67蛋白表达下调,caspase-3被抑制。然后证实MiR-27a-3p被circRNA TOP2A海绵和抑制,而MiR-27a-3p模拟物促进其表达。此外,miR-27a-3p过表达也能逆转circRNA TOP2A过表达引起的细胞活力下降。此外,过表达miR-27a-3p也恢复了circRNA TOP2A上调引起的Ki-67下调和cleaved - caspase-3蛋白表达升高,导致Ki-67上调和cleaved - caspase-3降低。
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引用次数: 0
期刊
International Journal of Human Genetics
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