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Rasmus Rydbirk, Jonas Folke, Kristian Winge, Susana Aznar, Bente Pakkenberg, Tomasz Brudek
Evaluation of gene expression levels by reverse transcription quantitative real-time PCR (RT-qPCR) has for many years been the favourite approach for discovering disease-associated alterations. Normalization of results to stably expressed reference genes (RGs) is pivotal to obtain reliable results. This is especially important in relation to neurodegenerative diseases where disease-related structural changes may affect the most commonly used RGs. We analysed 15 candidate RGs in 98 brain samples from two brain regions from Alzheimer's disease (AD), Parkinson's disease (PD), Multiple System Atrophy, and Progressive Supranuclear Palsy patients...
November 17, 2016: Scientific Reports
Porcelli Stefano, Crisafulli Concetta, Donato Luigi, Calabrò Marco, Politis Antonis, Liappas Ioannis, Albani Diego, Atti Anna Rita, Salfi Raffaele, Raimondi Ilaria, Forloni Gianluigi, Papadimitriou George N, De Ronchi Diana, Serretti Alessandro
INTRODUCTION: With the increase of the population's average age, Alzheimer's disease (AD) is becoming one of the most disabling diseases worldwide. Recently, neurodevelopment processes have been involved in the AD etiopathogenesis. Genetic studies in this field could contribute to our knowledge and suggest new molecular targets for possible treatments. METHODS: Our primary aim was to investigate the associations among single nucleotide polymorphisms (SNPs) within neurodevelopment related genes (BDNF, ST8SIA2, C15orf32, NCAPG2, ESYT2, WDR60, LOC154822, VIPR2, GSK3B, NR1I2, ZNF804A, SP4) and AD...
November 15, 2016: Journal of the Neurological Sciences
J Y Wang, Y Xia, C C Yang, Z Wang
Objective: To analysis the important genes and functions of cochlear hair cells with oxidative stress injury, by the construction of gene regulatory network which based on different miRNA in cochlear hair cells in vitro with oxidative stress injury, and to explore the molecular mechanisms of deafness based on oxidative stress injury. Method: The oxidative stress damage cochlear hair cell model was induced by 200 μmol/L t-BHP exposure in vitro. Small RNA deep sequencing analyzed the difference expression of miRNA and contructed gene regulatory network by 6 most significant difference miRNA...
October 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Björn Häupl, Christian H Ihling, Andrea Sinz
We investigated the interaction network of human PKD2 in the cytosol and in Golgi-enriched subcellular protein fractions by an affinity enrichment strategy combined with chemical cross-linking/mass spectrometry (MS). Analysis of the subproteomes revealed the presence of distinct proteins in the cytosolic and Golgi fractions. The covalent fixation of transient or weak interactors by chemical cross-linking allowed capturing interaction partners that might otherwise disappear during conventional pull-down experiments...
October 7, 2016: Journal of Proteome Research
Suad AlFadhli, Alaa A M Al-Zufairi, Rasheeba Nizam, Huda A AlSaffar, Nawaf Al-Mutairi
The purpose of our study was to identify the currently lacking molecular mechanism that accounts for the co-occurrence of two seemingly disparate diseases: psoriasis and type II diabetes. We aimed to investigate a panel of 84 genes related to the diabetic regulatory network in psoriasis (Ps), psoriasis type II diabetes (Ps-T2D), type II diabetes (T2D) and healthy control (HC). We hypothesize that such attempts would provide novel diagnostic markers and/or insights into pathogenesis of the disease. A quantitative Real Time-PCR Human Diabetes RT(2) Profiler PCR Array was chosen to explore the expression profile 84 diabetic genes in study subjects...
November 15, 2016: Gene
William Q Gillis, Arif Kirmizitas, Yasuno Iwasaki, Dong-Hyuk Ki, Jonathan M Wyrick, Gerald H Thomsen
BACKGROUND: Canonical Wnt signals, transduced by stabilized β-catenin, play similar roles across animals in maintaining stem cell pluripotency, regulating cell differentiation, and instructing normal embryonic development. Dysregulated Wnt/β-catenin signaling causes diseases and birth defects, and a variety of regulatory processes control this pathway to ensure its proper function and integration with other signaling systems. We previously identified GTP-binding protein 2 (Gtpbp2) as a novel regulator of BMP signaling, however further exploration revealed that Gtpbp2 can also affect Wnt signaling, which is a novel finding reported here...
2016: Cell Communication and Signaling: CCS
Hai-Jiang Qiu, Xiao-He Lu, Sha-Sha Yang, Chen-Yin Weng, E-Keng Zhang, Fang-Chao Chen
MicroRNAs (miRNAs) are short, non-coding RNAs with post-transcriptional regulatory function, playing crucial roles in cancer development and progression of human melanoma. Previous studies have indicated that miR-769 was implicated in diverse biological processes. However, the underlying mechanism of miR-769 in human melanoma has not been intensively investigated. In this present study, we aimed to investigate the role of miR-769 and its target genes in human melanoma. We found that miR-769 expression was strongly increased in human melanoma cells and clinical tissues compared with their corresponding controls...
August 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Q Ling, H Xie, J Li, J Liu, J Cao, F Yang, C Wang, Q Hu, X Xu, S Zheng
New-onset diabetes after liver transplantation (NODALT) is a frequent complication with an unfavorable outcome. We previously demonstrated a crucial link between donor graft genetics and the risk of NODALT. We selected 15 matched pairs of NODALT and non-NODALT liver recipients using propensity score matching analysis. The donor liver tissues were tested for the expression of 10 microRNAs (miRNAs) regulating human hepatic glucose homeostasis. The biological functions of potential target genes were predicted using gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis...
July 26, 2016: American Journal of Transplantation
Isabelle Plo, Christine Bellanné-Chantelot, William Vainchenker
We have recently identified a 700-kb tandem duplication at locus 14q32.13-q32.2 involving 2 genes, autophagy-related protein 2 homolog B (ATG2B) and GSK3B interacting protein (GSKIP), that increases the predisposition to myeloid malignancies. Here, we discuss the clinical relevance of these findings.
March 2016: Molecular & Cellular Oncology
Ashok Palaniappan, Karthick Ramar, Satish Ramalingam
It is well-known that the conversion of normal colon epithelium to adenoma and then to carcinoma stems from acquired molecular changes in the genome. The genetic basis of colorectal cancer has been elucidated to a certain extent, and much remains to be known about the identity of specific cancer genes that are associated with the advancement of colorectal cancer from one stage to the next. Here in this study we attempted to identify novel cancer genes that could underlie the stage-specific progression and metastasis of colorectal cancer...
2016: PloS One
Monika Karczewska-Kupczewska, Magdalena Stefanowicz, Natalia Matulewicz, Agnieszka Nikołajuk, Marek Strączkowski
CONTEXT: The β-catenin-dependent Wnt signaling plays a role in adipogenesis, myogenesis, and glucose homeostasis. OBJECTIVE: The aim of this study was to assess adipose tissue and skeletal muscle expression of Wnt/β-catenin signaling genes in a young healthy population according to insulin sensitivity and its regulation by hyperinsulinemia and free fatty acids. DESIGN: We examined 117 male volunteers. The participants were divided into subgroups of high-insulin sensitivity (IS) and low-IS on the basis of a 2-hour euglycemic clamp...
August 2016: Journal of Clinical Endocrinology and Metabolism
Danchen Wu, C Conover Talbot, Qun Liu, Zhi-Cheng Jing, Rachel L Damico, Rubin Tuder, Kathleen C Barnes, Paul M Hassoun, Li Gao
UNLABELLED: MicroRNAs (miRNAs) play important roles in the pathogenesis of pulmonary arterial hypertension (PAH). However, the pathways targeted by miRNAs in PAH have not been systematically investigated. We aim to identify dysregulated miRNAs for patients with idiopathic PAH (IPAH). miRNA profiling was performed on lung tissue total RNA from eight IPAH patients and eight control subjects. Real-time quantitative RT-PCR (qRT-PCR) was used for validation of miRNA and mRNA expression levels in 14 IPAH patients and 14 control subjects...
August 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Lakshmi-Surekha Krishnapati, Rohini Londhe, Vaishali Deoli, Apurva Barve, Saroj Ghaskadbi, Surendra Ghaskadbi
We have shown earlier that irradiation with UV induces duplication of foot in regenerating middle pieces of hydra. The present study was undertaken to elucidate the underlying mechanism(s) leading to this curious phenomenon. UV irradiation induced duplicated foot in about 30% of regenerating middle pieces. Metalloproteinases are important in foot formation, while Wnt pathway genes are important in head formation in hydra. The effect of UV irradiation on expression of these genes was studied by in situ hybridization and q-PCR...
2016: International Journal of Developmental Biology
Ghida Dairi, Qiunong Guan, Mani Roshan-Moniri, Colin C Collins, Christopher J Ong, Martin E Gleave, Christopher Y C Nguan, Caigan Du
Clusterin (CLU) is a chaperone-like protein and plays a protective role against renal ischemia-reperfusion injury (IRI); however, the molecular pathways for its functions in the kidney are not fully understood. This study was designed to investigate CLU-mediating pathways in kidney cells by using bioinformatics analysis. CLU null renal tubular epithelial cells (TECs) expressing human CLU cDNA (TEC-CLU(hCLU) ) or empty vector (TEC-CLU(-/-) ) were exposed to normoxia or hypoxia (1% O2 ). Transcriptome profiling with a significant twofold change was performed using SurePrint G3 Mouse Gene Expression 8 × 60 K microarray, and the signaling pathways was ranked by using Ingenuity pathway analysis...
December 2016: Journal of Cellular Physiology
Ghada A Abdel-Aleem, Eman F Khaleel, Dalia G Mostafa, Lydia K Elberier
In the current study, we aimed to investigate the mechanistic role of DJ-1/PI3K/Akt survival pathway in ischemia/reperfusion (I/R) induced cerebral damage and to investigate if the resveratrol (RES) mediates its ischemic neuroptotection through this pathway. RES administration to Sham rats boosted glutathione level and superoxide dismutase activity and downregulated inducible nitric oxide synthase expression without affecting redox levels of DJ-1 forms or components of PI3K/Akt pathway including PTEN, p-Akt or p/p-GSK3b...
October 2016: Archives of Physiology and Biochemistry
Coline Haxaire, Eric Haÿ, Valérie Geoffroy
The transcription factor Runx2 and the Wnt/β-catenin pathway are major regulators of bone formation. Our aim was to assess the interactions between the Wnt/β-catenin pathway and Runx2 that contribute to bone resorption. Our results indicate that the activity of the canonical Wnt/β-catenin pathway depends on Runx2. Runx2 overexpression inhibited β-catenin levels and activity in vitro and in vivo. Inhibition of Gsk3b using lithium chloride in Runx2-overexpressing osteoporotic female mice rescued the Wnt/β-catenin signaling in vivo and completely restored trabecular bone volume by increasing bone formation and decreasing bone resorption...
June 2016: American Journal of Pathology
Jamila Daragmeh, Waseim Barriah, Bashar Saad, Hilal Zaid
Recent advances in genomics, proteomics, cell biology and biochemistry of tumors have revealed new pathways that are aberrantly activated in numerous cancer types. However, the enormous amount of data available in this field may mislead scientists in focused research. As cancer cell growth and progression is often dependent upon the phosphoinositide 3-kinase (PI3K)/AKT pathway, there has been extensive research into the proteins implicated in the PI3K pathway. Using data available in the Human Protein Atlas database, the current study investigated the expression of 25 key proteins that are known to be involved with PI3K pathway activation in a distinct group of 20 cancer types...
April 2016: Oncology Letters
Todd E Druley, Lihua Wang, Shiow J Lin, Joseph H Lee, Qunyuan Zhang, E Warwick Daw, Haley J Abel, Sara E Chasnoff, Enrique I Ramos, Benjamin T Levinson, Bharat Thyagarajan, Anne B Newman, Kaare Christensen, Richard Mayeux, Michael A Province
BACKGROUND: The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes. METHODS: We performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture...
2016: BMC Geriatrics
Mileidys Pérez-Alea, Ana Vivancos, Ginevra Caratú, Judit Matito, Berta Ferrer, Javier Hernandez-Losa, Javier Cortés, Eva Muñoz, Vicente Garcia-Patos, Juan A Recio
Melanomas arising in association with a common or cellular blue nevus (MABN) comprise a relatively rare and heterogeneous group of lethal melanomas. Although GNAQ is known to be frequently mutated in common blue nevus, cellular blue nevus (CBN) and MABN and these malignant lesions present gross chromosome alterations harboring BAP1 mutations, little is known about other mutations that contribute to the development and progression of these neoplasms. Thus, the genetic profile of these tumors is important to increase the number of intervention and treatment modalities...
May 10, 2016: Oncotarget
D F Levey, E M Niculescu, H Le-Niculescu, H L Dainton, P L Phalen, T B Ladd, H Weber, E Belanger, D L Graham, F N Khan, N P Vanipenta, E C Stage, A Ballew, M Yard, T Gelbart, A Shekhar, N J Schork, S M Kurian, G E Sandusky, D R Salomon, A B Niculescu
Women are under-represented in research on suicidality to date. Although women have a lower rate of suicide completion than men, due in part to the less-violent methods used, they have a higher rate of suicide attempts. Our group has previously identified genomic (blood gene expression biomarkers) and clinical information (apps) predictors for suicidality in men. We now describe pilot studies in women. We used a powerful within-participant discovery approach to identify genes that change in expression between no suicidal ideation (no SI) and high suicidal ideation (high SI) states (n=12 participants out of a cohort of 51 women psychiatric participants followed longitudinally, with diagnoses of bipolar disorder, depression, schizoaffective disorder and schizophrenia)...
June 2016: Molecular Psychiatry
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