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小额外标记染色体与不育的研究进展（英文）

中华男科学杂志 2014年第9期20卷 771-780页

作者： thomas liehr Jena University Hospital Institute of Human Genetics

不育受年龄、激素水平、病毒感染、免疫、遗传、手术创伤以及配子异常等因素影响。回顾文献发现,染色体畸变与不育密切相关。不育患者小额外标记染色体(sSMC)的携带率约是正常人群的3倍。根据sSMC数据库(http://***/***)收录,已有225个... 详细信息

不育受年龄、激素水平、病毒感染、免疫、遗传、手术创伤以及配子异常等因素影响。回顾文献发现,染色体畸变与不育密切相关。不育患者小额外标记染色体(sSMC)的携带率约是正常人群的3倍。根据sSMC数据库(http://***/***)收录,已有225个病例研究发现sSMC主要来源于15号或14号染色体。不育患者的sSMC中,53%是通过遗传获得,且更倾向于来自母亲。同时,sSMC的遗传有一定的性别差异,携带有sSMC的母亲更倾向于遗传给儿子,反之,携带有sSMC父亲更倾向于遗传给女儿。少弱畸精子症患者携带的sSMC多数来源于近端着丝粒染色体,而反复自然流产夫妇携带的sSMC大多来自非近端着丝粒染色体。本文全面综述目前sSMC与不育相关性研究,有助于理解遗传异常在不育发生过程中的作用。

关键词：小额外标记染色体不育分子细胞遗传学家族遗传新发生常染色体变异

Partial Trisomy 1q21-qter and Partial Monosomy 7q21-qter Due to a Derivative Chromosome 7 in Myelodysplastic Syndrome Associated with Squamous Cell Carcinoma: Case Report

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Case Reports in Clinical Medicine 2016年第12期5卷 518-527页

作者： Abdulsamad Wafa Faten Moassass thomas liehr Abdulmunim Aljapawe Walid Al Achkar Chromosomes Laboratory Human Genetics Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Flow-Cytometry Unit Mammalians Biology Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria

Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monosomy of chromosomes 5 and 7, partial deletion of 20q and 12p, trisomy 8, and 11q23 aberrations. A few primary and/or secondary MDS cases combined with other cancer have been reported. Case Presentation: We report here an adult MDS associated with squamous cell carcinoma (SCC). G-banding and array-proven multicolor banding (aMCB) revealed an unbalanced translocation der(7)t(1;7)(q21;q21), which led to 1q partial trisomy and 7q partial monosomy. Immunophenotype of this case was consistent with refractory anemia with excess of blasts (RAEB-2) according to World Health Organization (WHO) classification. Conclusions: As far as we know, this is the first adult MDS case associated with SCC and an unbalanced translocation t(1;7). Our patient received first cycle of azacitidine treatment and he showed bilateral pleural effusion as a secondary event. This toxicity is not limited to the first cycle as in previous MDS cases;our case is the first one to shown this toxicity as a secondary event of azacitidine treatment. As less than 10 cytogenetcially comparable cases without SCC were reported before in male MDS, we carefully conclude that this cytogenetic aberration may be a hint on a new gender associated MDS subgroup.

关键词： Myelodysplastic Syndrome (MDS) Cytogenetics Fluorescence in Situ Hybridization (FISH) Squamous Cell Carcinoma (SCC) Prognostic Factors

染色体异常致反复和后代5p12-15.3三体:一对叙利亚夫妇报道及文献复习（英文）

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中华男科学杂志 2015年第3期21卷 219-224页

作者： Walid AL-ACHKAR Faten Moassass Ayman Al-Ablog thomas liehr Xiaobo Fan Abdulsamad Wafa Department of Molecular Biology and Biotechnology Human Genetics DivisionAtomic Energy Commission Jena University Hospital Institute of Human Genetics

在本研究中,我们介绍一叙利亚夫妻发生孕早期反复流产、胎儿畸形和/或新生儿死亡。经检查,父亲表型正常,有一个平衡的染色体易位t(5;15),在无精子症因子(AZF)b座位s Y125基因发生了微缺失而且其伴有MTHFRC677T纯合子基因多态性。值得注... 详细信息

在本研究中,我们介绍一叙利亚夫妻发生孕早期反复流产、胎儿畸形和/或新生儿死亡。经检查,父亲表型正常,有一个平衡的染色体易位t(5;15),在无精子症因子(AZF)b座位s Y125基因发生了微缺失而且其伴有MTHFRC677T纯合子基因多态性。值得注意的是,他的妻子则伴有MTHFRA1298C纯合子基因多态性。这对夫妻经历了两次流产,有2个夭折的孩子均为严重畸形,为5号染色体短臂部分三体。夫妻结婚10年后没有任何存活后代。

关键词：反复流产染色体异常胎儿畸形死胎 5p三体 Y染色体缺失荧光原位杂交亚甲基四氢叶酸还原酶

C-type lectins and human epithelial membrane protein1:Are they new proteins in keratin disorders?

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Open Journal of Genetics 2013年第4期3卷 262-269页

作者： Nilufer Karadeniz thomas liehr Kristin Mrasek Ibrahim Asik Zuleyha Asik Nadezda Kosyakova Hasmik Mkrtchyan Medical Genetics of Zubeyde Hanim Maternity Hospital AnkaraTurkey Jena University Hospital Institute of Human GeneticsKollegiengasseJenaGermany Department of Anaesthesiology and Intensive Care Faculty of MedicineUniversity of AnkaraAnkaraTurkey Dermatology of Dr Sami Ulus Children’s Hospital AnkaraTurkey

Here we report a family with a clinical spectrum of Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of chromosomal translocations on gene expression through involved breakpoints and structural gene abnormalities detected by array CGH. We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of PCT through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1). Better understanding of the molecular basis of keratin disorders is the foundation for improved diagnosis, genetic counseling and novel therapeutic approaches to overcome the current treatment limitations related to this disease.

关键词： Keratins Palmoplantar Keratoderma Pachyonychia Congenital Tarda Lectins Epithelial Membrane Protein1 Gene Expression and Chromosome Translocation

A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case

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Case Reports in Clinical Medicine 2013年第9期2卷 517-520页

作者： Walid Al Achkar Abdulsamad Wafa Abdulmunim Aljapawe Moneeb Abdullah Kassem Othman thomas liehr Human Genetics Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Mammalians Biology Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria

The so-calledPhiladelphia(Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 and the 3' part of the ABL1 gene on chromosome 9. An additional acquired monosomy 7 or deletion of 7q is associated with poor prognosis in a variety of myeloid disorders. Here we report a novel Ph chromosome positive CML case with a ring chromosome 7 [r(7)]. Immunophenotyping was compatible with CML, although 4.5% of total leucocytes appeared like acute myelogeneous leukemia (AML) subtype M2. The r(7) was characterized in detail by array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail. Underlying mechanisms and prognostic are discussed, as ring chromosomes are rare cytogenetic abnormalities in hematopoietic malignancies.

关键词： Chronic Myeloid Leukemia (CML) Ring Chromosome 7 Del(7p) Fluorescence in Situ Hybridization (FISH) Reverse Transcription Polymerase Chain Reaction (RT-PCR) Array-Proven Multicolor Banding (aMCB)

Piwi like RNA-mediated gene silencing 1 gene as a possible major player in gastric cancer

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World Journal of Gastroenterology 2018年第47期24卷 5338-5350页

作者： Taíssa Araújo Andre Khayat Luciana Quintana Danielle Calcagno Ronald Mourao Antonio Modesto Juliana Paiva Adhara Lima Fabiano Moreira Edivaldo Oliveira Michel Souza Moneeb Othman thomas liehr Eliana Abdelhay Renata Gomes Sidney Santos Paulo Assumpcao Núcleo de Pesquisas em Oncologia Universidade Federal do ParáBelém 66073-000Brazil Laboratório de Cultura de Tecidos e Citogenética Instituto Evandro ChagasBelém 66087-082Brazil Institute of Human Genetics Universitatsklinikum JenaJena 07747Germany Laboratório de Célula Tronco Centro de Transplante de Medula OsseaInstituto Nacional de Cancer Jose Alencar Gomes da SilvaRio de Janeiro 20230-130Brazil

AIM To establish a permanent piwi like RNA-mediated genesilencing 1(PIWIL1) gene knockout in AGP01 gastric cancer cell line using CRISPR-Cas9 system and analyze phenotypic modifications as well as gene expression *** CRISPR-Cas9 system used was purchased from Dharmacon GE Life Sciences(Lafayette, CO, United States) and permanent knockout was performed according to manufacturer's recommendations. Woundhealing assay was performed to investigate the effect of PIWIL1 knockout on migration capability of cells and Boyden chamber invasion assay was performed to investigate the effect on invasion capability. For the gene expression analysis, a one-color microarray-based gene expression analysis kit(Agilent Technologies, Santa Clara, CA, United States) was used according to the protocol provided by the manufacturer. RESULTS PIWIL1 gene knockout caused a significant decrease in AGP01 migration capacity as well as a significant decrease in cell invasiveness. Moreover, functional analysis based on grouping of all differentially expressed m RNAs identified a total of 35 genes(5 up-regulated and 30 down-regulated) encoding proteins involved in cellular invasion and migration. According to current literature, 9 of these 35 genes(DOCK2, ZNF503, PDE4 D, ABL1, ABL2, LPAR1, SMAD2, WASF3 and DACH1) are possibly related to the mechanisms used by PIWIL1 to promote carcinogenic effects related to migration and invasion, since their functions are consistent with the changes observed(being up-or down-regulated after knockout). CONCLUSION Taken together, these data reinforce the idea that PIWIL1 plays a crucial role in the signaling pathway of gastric cancer, regulating several genes involved in migration and invasion processes; therefore, its use as a therapeutic target may generate promising results in the treatment of gastric cancer.

关键词： Gastric cancer Piwi like RNA-mediated gene silencing 1 CRISPR-Cas9 Migration Invasion

Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma

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Journal of Cancer Metastasis and Treatment 2018年第1期4卷 597-605页

作者： Moneeb A.K Othman Beate Grygalewicz Agnieszka Kołkowska-Lesniak Joana B.Melo Isabel M.Carreira thomas liehr Jena University Hospital Friedrich Schiller UniversityInstitute of Human GeneticsJena D-07740Germany Cytogenetic Laboratory Maria Sklodowska-Curie Memorial Cancer Centre and InstituteWarsaw 02-781Poland Department of Lymphatic Diseases Institute of Hematology and TransfusionWarsaw 02-776Poland Laboratory of Cytogenetics and Genomics Faculty of MedicineUniversity of CoimbraCoimbra 3000-354Portugal Centro de Investigac̃ao em Meio Ambiente Genetica e Oncobiologia(CIMAGO)Coimbra 3001-301Portugal

T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular ***,complex karyotypes were already related to this group of malignancy and associated with poor ***,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-***,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic *** addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were ***,NUP214-ABL1 fusion gene replicated autonomously in this case as ***,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase *** episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.

关键词： T-cell lymphoblastic lymphoma NUP214-ABL1 fusion complex karyotype episomes intra-tumor genetic heterogeneity molecular cytogenetics array comparative genomic hybridization