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Integrative analysis of aberrant Wnt signaling in hepatitis B virus-related hepatocellular carcinoma

World Journal of Gastroenterology 2015年第20期21卷 6317-6328页

作者： Shan-Long Ding Zi-Wei Yang Jie Wang Xiao-Lei Zhang Xiang-Mei Chen Feng-Min Lu department of Microbiology and Infectious disease center School of Basic Medical SciencesPeking University Health Science Center

AIM: To comprehensively understand the underlying molecular events accounting for aberrant Wnt signaling activation in hepatocellular carcinoma(HCC).METHODS: This study was retrospective. The HCC tissue specimens used in this research were obtained from patients who underwent liver surgery. The Catalogue of Somatic Mutations in Cancer(COSMIC) database was searched for the mutation statuses of CTNNB1, TP53, and protein degradation regulator genes of CTNNB1. Dual-luciferase reporter assay was performed with TOP/FOP reporters to detect whether TP53 gain-of-function(GOF) mutations could enhance the transcriptional activity of Wnt signaling. Methylation sensitive restriction enzyme-quantitative PCR was used to explore the methylation status of Cp G islands located in the promoters of APC, SFRP1, and SFRP5 in HCCs with different risk factors. Finally, nestedreverse transcription PCR was performed to examine the integration of HBx in front of LINE1 element and the existence of HBx-LINE1 chimeric transcript in Hepatitis B virus-related HCC. All results in this article were analyzed with the software SPSS version 19.0 for Windows, and different groups were compared by χ2 test as ***: Based on the data from COSMIC database, compared with other solid tumors, mutation frequency of CTNNB1 was significantly higher in HCC(P rare in HCC, which indicates that TP53 GOF mutation is not a reason for the aberrant activation of Wnt signaling in HCC. APC and AXIN1 were mutated in HCC. By using methylation sensitive restriction enzym

关键词： β-catenin CTNNB1 Hepatitis B virus Hepatocellular carcinoma TP53 Wnt signaling

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Novel Y-chromosome Short Tandem Repeat Variants Detected Through the Use of Massively Parallel Sequencing

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Genomics, Proteomics & Bioinformatics 2015年第4期13卷 250-257页

作者： David H.Warshauer Jennifer D.Churchill Nicole Novroski Jonathan L.King Bruce Budowle Institute of Applied genetics Department of Molecular and Medical Genetics University of North Texas Health Science Center center of Excellence in Genomic Medicine Research (CEGMR) King Abdulaziz University

Massively parallel sequencing （MPS） technology is capable of determining the sizes of short tandem repeat （STR） alleles as well as their individual nueleotide sequences. Thus, single nucleotide polymorphisms （SNPs） within the repeat regions of STRs and variations in the pattern of repeat units in a given repeat motif can be used to differentiate alleles of the same length. In this study, MPS was used to sequence 28 forensically-relevant Y-chromosome STRs in a set of 41 DNA samples from the 3 major U.S. population groups （African Americans, Caucasians, and Hispanics）. The resulting sequence data, which were analyzed with STRait Razor v2.0, revealed 37 unique allele sequence variants that have not been previously reported. Of these, 19 sequences were variations of documented sequences resulting from the presence of intra-repeat SNPs or alternative repeat unit patterns. Despite a limited sampling, two of the most frequently-observed variants were found only in African American samples. The remaining 18 variants represented allele sequences for which there were no published data with which to compare. These findings illustrate the great potential of MPS with regard to increasing the resolving power of STR typing and emphasize the need for sample population characterization of STR alleles.

关键词： Y-STR Sequence polymorphism Allele variants Massively parallel sequencing Nextera STRait Razor

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RNAi screen in Drosophila yields a fat catch of Hedgehog

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Protein & Cell 2010年第3期1卷 205-206页

作者： Steven Y Cheng center for Regenerative Medicine and department of Developmental genetics Nanjing Medical UniversityNanjing 210029China

Obesity,the scrooge of technological advances of the human society,just had its genetic makings revealed once again.A large international team led by Josef *** and Harald Esterbauer from the Austrian Academy of Sciences and medical University of Vienna have conducted a systemic hunt for obesity genes in adult Drosophila using an ingenious design of RNAi-based screening strategy(Pospisilik et al.,2010).This study covered 78%of Drosophila genome,including 30%of genes that would otherwise cause embryonic lethality if inactivated by conventional *** findings included~500 obesity genes that have their functions linked to control of differentiation along neuronal,muscle,and oenocyte lineages,but components of the Hedgehog(Hh)signaling distinguished themselves as the top-scoring hits。

关键词： Hedgehog otherwise finding

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The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells

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Genomics, Proteomics & Bioinformatics 2020年第4期18卷 384-396页

作者： Monika Hiller Miriam Geissler George Janssen Peter van Veelen Annemieke Aartsma-Rus Pietro Spitali department of Human genetics Leiden University Medical CenterLeiden 2333 ZCthe Netherlands center for Proteomics and Metabolomics Leiden University Medical CenterLeiden 2333 ZCthe Netherlands

Muscle formation is a coordinated process driven by extensive gene expression changes where single cells fuse together to form multinucleated muscle fibers. Newly synthesized m RNAs are then regulated by RNA binding proteins(RBPs), affecting post-transcriptional transcript metabolism. Here, we determined how large-scale gene expression changes affect the catalog of RBPs by studying proliferating and differentiated muscle cells in healthy and dystrophic conditions. Transcriptomic analysis showed that the expression of more than 7000 genes was affected during myogenesis. We identified 769 RBPs, of which 294 were muscle-specific and 49 were uniquely shared with cardiomyocytes. A subset of 32 RBPs(half of which were muscle-specific) was found to be preferentially associated with target mRNAs in either myoblasts(MBs) or myotubes(MTs). A large proportion of catalytic proteins were bound to mRNAs even though they lack classical RNA binding domains. Finally, we showed how the identification of cell-specific RBPs enabled the identification of biomarkers that can separate healthy individuals from dystrophic patients. Our data show how interactome data can shed light on new basic RNA biology as well as provide cell-specific data that can be used for diagnostic purposes.

关键词： RNA binding protein Interactome Duchenne muscular dystrophy Proteomics Skeletal muscle

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Battle of the sexes: contrasting roles of testis-specific protein Y-encoded (TSPY) and TSPX in human oncogenesis

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Asian Journal of Andrology 2019年第3期21卷 260-269页

作者： Yun-Fai Chris Lau Yunmin Li Tatsuo Kido Division of Cell and Developmental genetics Department of Medicine VA Medical Center and Institute for Human Genetics University of California San Francisco CA 94121 USA

The Y-located testis-specific protein Y-encoded (TSPY) and its X-homologue TSPX originated from the same ancestral gene, but act as a proto-oncogene and a tumor suppressor gene, respectively. TSPY has specialized in male-specific functions, while TSPX has assumed the functions of the ancestral gene. Both TSPY and TSPX harbor a conserved SET/NAP domain, but are divergent at flanking structures. Specifically, TSPX contains a C-terminal acidic domain, absent in TSPY. They possess contrasting properties, in which TSPY and TSPX, respectively, accelerate and arrest cell proliferation, stimulate and inhibit cyclin B-CDK1 phosphorylation activities, have no effect and promote proteosomal degradation of the viral HBx oncoprotein, and exacerbate and repress androgen receptor (AR) and constitutively active AR variant, such as AR-V7, gene transactivation. The inhibitory domain has been mapped to the carboxyl acidic domain in TSPX, truncation of which results in an abbreviated TSPX exerting positive actions as TSPY. Transposition of the acidic domain to the C-terminus of TSPY results in an inhibitory protein as intact TSPX. Hence, genomic mutations/aberrant splicing events could generate TSPX proteins with truncated acidic domain and oncogenic properties as those for TSPY. Further, TSPY is upregulated by AR and AR-V7 in ligand-dependent and ligand-independent manners, respectively, suggesting the existence of a positive feedback loop between a Y-located proto-oncogene and male sex hormone/receptors, thereby amplifying the respective male oncogenic actions in human cancers and diseases. TSPX counteracts such positive feedback loop. Hence, TSPY and TSPX are homologues on the sex chromosomes that function at the two extremes of the human oncogenic spectrum.

关键词： androgen receptor AR-V7 cell cycle regulation cyclin B-CDK1 oncogene sex chromosomes sex differences TSPX TSPY tumor suppressor

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Frequent loss of heterozygosity at 8p22 chromosomal region in diffuse type of gastric cancer

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World Journal of Gastroenterology 2007年第24期13卷 3354-3358页

作者： Hedayat Allah Hosseini Ali Ahani Hamid Galehdari Ali Mohammad Froughmand Masoud Hosseini Abdolrahim Masjedizadeh Mohammad Reza Zali Biochemistry department Medical school Ahwaz JondishapoorUniversity of Medical Science Ahwaz Iran Biology department Shahid Beheshti University Tehran Iran. genetics department Shahid Chamran University Ahwaz Iran Research center of Gastroenterology and Liver disease Shahid Beheshti University of Medical Science Tehran Iran

AIM: To study the loss of heterozygosity (LOH) at 8p21-23 locus in diffuse gastric ***: To evaluate the involvement of this region in gastric cancer, we used eight microsatellite markers covering two Mb of mentioned region, to perform a high-resolution analysis of allele loss in 42 cases of late diffuse gastric ***: Six of these STS makers: D8S1149, D8S1645, D8S1643, D8S1508, D8S1591, and D8S1145 showed 36%, 28%, 37%, 41%, 44% and 53% LOH, ***: A critical region of loss, close to the NAT2 locus and relatively far from FEZ1 gene currently postulated as tumor suppressor gene in this region.

关键词： loss of heterozygosity Tumor suppressor genes diffuse type of gastric cancer STS marker N-Acetyltransferase 2 Fez1

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Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

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Genes & diseases 2018年第4期5卷 331-334页

作者： Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad department of Basic medical Sciences Neyshabur University of Medical SciencesNeyshaburIran department of medical genetics School of MedicineGolestan University of Medical SciencesGorganIran medical genetics Counseling center NeyshaburIran department of medical genetics School of MedicineMashhad University of Medical SciencesMashhadIran

Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular *** pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and *** MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some ***,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower *** parents are second *** Motor Sensory Neuropathy as initial genetic diagnosis was ruled *** exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family *** and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.

关键词： Kyphoscoliosis peptidase gene Myofibrillar myopathy Next generation sequencing Novel mutation rare genetic neuromuscular disorders

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Carcinosarcoma of the breast:Facing the challenge of a rare nosologic entity

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World Journal of Clinical Cases 2025年第2期13卷 14-20页

作者： Aikaterini Mastoraki Maria Tsamopoulou Foivos-Konstantinos Stamatis Alexios Strimpakos Ero Mouchtouri Christiana Panagi Evgenia Mela Sotiria Mastoraki Aristotelis Kechagias Dimitrios Schizas department of Surgery National and Kapodistrian University of AthensLaikon General HospitalAthens 11527Greece department of Surgery National and Kapodistrian University of AthensAthens 11527Greece department of medical Oncology Hygeia HospitalAthens 15123Greece department of Radiology Henry Dunant Hospital CenterAthens 11526Greece department of Surgery Athens Metropolitan HospitalAthens 15562Greece

Carcinosarcoma(CS),also known as metaplastic breast carcinoma with mesenchymal differentiation,is one of the five distinct subtypes of metaplastic breast *** is considered as a mixed,biphasic neoplasm consisting of a carcinomatous component combined with a malignant nonepithelial element of mesenchymal origin without an intermediate transition *** cellular origin of this neoplasm remains controversial,most researchers declare that neoplastic cells derive from a cellular structure with potential biphasic *** recent research on the therapeutic strategies against CS neoplastic disorders,surgical resection appears the only potentially curative *** CS metastasize by the lymphatic route,axillary assessment with sentinel lymph node biopsy and/or axillary lymph node dissection is always ***,the tumor also presents a hematogenous metastatic pattern including pleural,pulmonary,liver,brain and less commonly bone ***,surgical removal of breast CS does not necessarily ensure patient’s long-term ***,alternative therapies,such as radio-and chemotherapy proved insufficient and 5-year survival rate is ***,there is evidence that following surgery,the combination of radio and chemotherapy is associated with a better prognosis than either treatment *** aim of this review is to evaluate the results of surgical treatment for breast CS with special reference to the extent of its histological *** features,histogenesis,morphological and immunochemical findings are discussed,while the role of current diagnostic and therapeutic management of this aggressive neoplasm is emphasized.

关键词： Carcinosarcoma Breast Diagnostic approach Therapeutic management Prognostic parameters

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Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

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World Journal of Gastroenterology 2015年第14期21卷 4136-4149页

作者： Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel department of Human genetics Radboud University Medical CenterRadboud Institute for Molecular Life Sciences department of Gastroenterology General Hospital of Beijing Military Region Third Military medical University Chongqing 400038China department of Human genetics and department of Pathology Radboud University Medical Center

AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC ***: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of *** DNA from blood was enriched for exome sequences using the Sure Select Human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 *** were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing ***: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger *** 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as *** remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating *** previously unreported variant identified in a conserved region of EIF2AK4(***738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes.

关键词： Colorectal cancer Cancer predisposition Early-onse

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Multivariable clinical-genetic model for predicting dyskinesia in early-onset Parkinson’s disease

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Translational Neurodegeneration 2021年第3期10卷 343-345页

作者： Yong-Ping Chen Ru-Wei Ou Xiao-Jing Gu Ling-Yu Zhang Bei Cao Yan-Bing Hou Kun-Cheng Liu Jun-Yu Lin Qian-Qian Wei Bi Zhao Ying Wu Hui-Fang Shang department of Neurology Laboratory of Neurodegenerative DisordersRare Disease CenterWest China HospitalSichuan UniversityChengdu 610041China

Main text The levodopa-induced dyskinesias(LIDs)in Parkinson’disease(PD)patients during levodopa treatment can lead to significant *** evidence has suggested that the younger the age of onset,the more likely the development of LIDs[1].Till now,most of the studies on clinical or genetic risk factors for LIDs were cross-sectional[2],or included limited sample size[3],or mainly included late-onset PD patients[4].Here,we investigated the incidence of LIDs in the early stage of early-onset PD(EOPD),including the first 5 years of duration and the first 5 years of dopamine replacement therapy(DRT),and established and validated clinicalgenetic models for LID *** methods are provided in Supplementary File 1.

关键词： clinical dopamine younger

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