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human cytogenetics

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https://www.readbyqxmd.com/read/29034888/generation-of-two-men1-knockout-lines-from-a-human-embryonic-stem-cell-line
#1
Yanli Liu, Aynisahan Ruzi, Dongsheng Guo, Feima Wu, Haikun Liu, Han Wu, Yuhang Wu, Fang Yuan, Yuanqi Zhuang, Fan Yang, Keyu Lai, Liangxue Lai, Yin-Xiong Li
The MEN1 gene is cytogenetically located at 11q13.1 and encodes the nuclear protein menin, which is involved in cell proliferation, apoptosis, differentiation, and metabolism. Here, we generated two MEN1 knockout human embryonic stem cell lines, WAe001-A-4 and WAe001-A-5, by targeting exon-2 and exon-9 of MEN1 using the CRISPR/Cas9 technique. These cell lines maintained their pluripotency, in vitro differentiation potential, normal morphology, and karyotype. These human MEN1-mutated cell lines not only enlarge the pool of lab resources but also provide ideal models to dissect the detailed physio-pathological roles of the menin protein...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034882/generation-of-human-induced-pluripotent-stem-cell-lines-from-human-dermal-fibroblasts-using-a-modified-rna-system
#2
Kyung-Ok Uhm, Gue Youn Go, So-Jung Kim, Eun Hee Jo, Hye Young Choi, Young Sam Im, Hye-Yeong Ha, Jung-Hyun Kim, Soo Kyung Koo
We generated human induced pluripotent stem cells (KSCBi002-B and KSCBi002-B-1) from the dermal fibroblasts of a donor using a modified RNA-based gene delivery method. According to GTG-banding analysis, the generated KSCBi002-B line has a cytogenetic abnormality (46,XY, t(1;4)(q21;q25)) that is distinct from that of the donor, whereas KSCBi002-B-1 has a normal karyotype (46,XY). These cell lines can be useful as a model for characterizing the hiPSCs generated by a non-viral and non-integrative system, or as a chromosomal balanced translocation model...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29032147/high-bone-marrow-mir-19b-level-predicts-poor-prognosis-and-disease-recurrence-in-de-novo-acute-myeloid-leukemia
#3
Ting-Juan Zhang, Jiang Lin, Jing-Dong Zhou, Xi-Xi Li, Wei Zhang, Hong Guo, Zi-Jun Xu, Yang Yan, Ji-Chun Ma, Jun Qian
Oncogenic role of miR-19 family has been identified in human cancers especially in lymphoid malignancies. However, to date, little studies investigated the role of miR-19 family in myeloid malignancies. Herein, we examined miR-19a/b expression and explored its clinical significance in de novo acute myeloid leukemia (AML). The detection of miR-19a/b expression was performed by real-time quantitative PCR in bone marrow mononuclear cells of 113 patients and 42 healthy donors. Both miR-19a/b levels were significantly increased in AML patients in contrast to controls...
October 12, 2017: Gene
https://www.readbyqxmd.com/read/29030084/characterization-and-use-of-the-novel-human-multiple-myeloma-cell-line-mc-b11-14-to-study-biological-consequences-of-crispr-mediated-loss-of-immunoglobulin-a-heavy-chain
#4
Denise K Walters, Bonnie K Arendt, Renee C Tschumper, Xiaosheng Wu, Diane F Jelinek
The genetic abnormalities underlying multiple myeloma (MM) are notoriously complex and intraclonal heterogeneity is a common disease feature. In the current study, we describe the establishment of a monoclonal IgA kappa (κ) MM cell line, designated MC-B11/14. Cytogenetic and FISH analyses of the original and relapse patient samples revealed the MM clone was non-hyperdiploid and possessed an 11;14 chromosomal translocation. The MC-B11/14 cell line, established from the relapse sample, is tetraploid and houses the t(11;14) abnormality...
October 10, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/29029405/sox7-promotes-the-maintenance-and-proliferation-of-b-cell-precursor-acute-lymphoblastic-cells
#5
Sara Cuvertino, Genny Filiciotto, Ashish Masurekar, Vaskar Saha, Georges Lacaud, Valerie Kouskoff
B cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most frequent type of cancer in children. Despite progresses in curative treatment, intensive chemotherapy regimens still cause life threatening complications. A better understanding of the molecular mechanisms underlying the emergence and maintenance of BCP-ALL is fundamental for the development of novel therapies. Here, we establish that SOX7 is frequently and specifically expressed in BCP-ALL and that the expression of this transcription factor does not correlate with any specific cytogenetic abnormalities...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28992336/molecular-and-cytogenetic-effects-of-thai-royal-jelly-modulation-through-c-myc-h-tert-nrf2-ho-1-bcl2-bax-and-cyclins-in-human-lymphocytes-in-vitro
#6
Wantha Jenkhetkan, Sumon Thitiorul, Chalerm Jansom, Treetip Ratanavalachai
Royal jelly (RJ) is widely used as a food supplement for anti-aging and beauty. However, its use has been linked to asthma and hemorrhagic colitis. Since its mechanisms of toxicity have not been fully identified, we conducted an investigation to elucidate its molecular and cytogenetic effects. Using human lymphocytes in vitro, treatments with RJ (0.0005-5 mg/ml) for 3 h did not induce sister chromatid exchanges until 5 mg/ml was used. Treatments for 24 h showed a dose-dependent reduction in BCL2/BAX, c-MYC/BAX and HO-1/BAX ratios...
September 15, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28971166/somatic-hla-mutations-expose-the-role-of-class-i-mediated-autoimmunity-in-aplastic-anemia-and-its-clonal-complications
#7
Daria V Babushok, Jamie L Duke, Hongbo M Xie, Natasha Stanley, Jamie Atienza, Nieves Perdigones, Peter Nicholas, Deborah Ferriola, Yimei Li, Hugh Huang, Wenda Ye, Jennifer J D Morrissette, Jane Kearns, David L Porter, Gregory M Podsakoff, Laurence C Eisenlohr, Jaclyn A Biegel, Stella T Chou, Dimitrios S Monos, Monica Bessler, Timothy S Olson
Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two aAA patients with somatic mutations in HLA class I genes...
October 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#8
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
September 26, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28949401/kronisk-myeloisk-leukemi-f%C3%A3-rebild-f%C3%A3-r-m%C3%A3-lstyrd-terapi-revolutionerande-%C3%A3-verlevnadsvinster-med-definitiv-bot-i-sikte-och-kraftigt-f%C3%A3-rb%C3%A3-ttrad-h%C3%A3-lsoekonomi
#9
Johan Richter, Leif Stenke
Chronic myeloid leukemia - a model disease for targeted therapy Chronic myeloid leukemia (CML) pioneered as the first human malignancy linked to a specific cytogenetic aberration (the Philadelphia chromosome), which led the way to specific targeted therapies with imatinib (Glivec) and later tyrosine kinase inhibitors (TKI). Continuous TKI administration, blocking the oncogenic fusion protein Bcr-Abl, has revolutionized the outcome of CML, transforming an almost uniformly deadly disease into a chronic disorder with a near to normal life expectancy for many patients...
September 21, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28943391/cytogenetic-effects-of-jacareubin-from-calophyllum-brasiliense-on-human-peripheral-blood-mononucleated-cells-in-vitro-and-on-mouse-polychromatic-erythrocytes-in-vivo
#10
W R García-Niño, E Estrada-Muñiz, M Valverde, R Reyes-Chilpa, L Vega
Jacareubin is a xanthone isolated from the heartwood of Calophyllum brasiliense with antibacterial and gastroprotective properties and the intention for clinical use as an anti-cancer treatment (due to the similar chemical structure to other anti-neoplastic drugs) requires an investigation of whether this compound can generate adverse effects on non-transformed cells. Jacareubin (0.5-1000μM in DMSO) was more cytotoxic on phytohemagglutinin (PHA)-stimulated normal human peripheral blood mononuclear cells (PBMCs; IC50 at 72h by MTT: 85...
September 22, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28934716/automatic-detection-of-micronuclei-by-cell-microscopic-image-processing
#11
Mohammad Taghi Bahreyni Toossi, Hosein Azimian, Omid Sarrafzadeh, Shokoufeh Mohebbi, Shokouhozaman Soleymanifard
With the development and applications of ionizing radiation in medicine, the radiation effects on human health get more and more attention. Ionizing radiation can lead to various forms of cytogenetic damage, including increased frequencies of micronuclei (MNi) and chromosome abnormalities. The cytokinesis block micronucleus (CBMN) assay is widely used method for measuring MNi to determine chromosome mutations or genome instability in cultured human lymphocytes. The visual scoring of MNi is time-consuming and scorer fatigue can lead to inconsistency...
August 12, 2017: Mutation Research
https://www.readbyqxmd.com/read/28934678/establishment-of-cell-line-with-nk-nkt-phenotype-from-myeloid-nk-cell-acute-leukemia
#12
A Darji, N Desai, R Modi, B Khamar, S Rajkumar
Acute Myeloid Leukemia (AML) is the most common malignancy in adults with a 5-year survival rate of 27% of the total affected population. For effective treatment and new drug discovery, cell lines are considered as a very important tool. Here we report an establishment of a continuous human cell line AML-004 with a hypo-diploid chromosome 44 and presence of both NK/NKT phenotypes. The cell line was isolated from the blood sample of myeloid NK cell acute leukemia patients and extensively characterized by flow cytometery, morphology, and cytogentic analysis...
September 13, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#13
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28927528/adaptation-of-the-human-population-to-the-environment-current-knowledge-clues-from-czech-cytogenetic-and-omics-biomonitoring-studies-and-possible-mechanisms
#14
REVIEW
Andrea Rossnerova, Michaela Pokorna, Vlasta Svecova, Radim J Sram, Jan Topinka, Friedo Zölzer, Pavel Rossner
The human population is continually exposed to numerous harmful environmental stressors, causing negative health effects and/or deregulation of biomarker levels. However, studies reporting no or even positive impacts of some stressors on humans are also sometimes published. The main aim of this review is to provide a comprehensive overview of the last decade of Czech biomonitoring research, concerning the effect of various levels of air pollution (benzo[a]pyrene) and radiation (uranium, X-ray examination and natural radon background), on the differently exposed population groups...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28924290/a-case-report-of-acute-myelogenous-leukemia-with-turner-syndrome
#15
Nadir Siddiqui, Mirza Faris Ali Baig, Bilal Ahmed Khan
Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28902524/molecular-cytogenetic-characterization-identified-the-murine-b-cell-lymphoma-cell-line-a-20-as-a-model-for-sporadic-burkitt-s-lymphoma
#16
Karolina Guja, Thomas Liehr, Martina Rincic, Nadezda Kosyakova, Shaymaa S Hussein Azawi
Here, we report the first molecular cytogenetic characterization of the BALB/cAnN mouse derived B-cell non-Hodgkin lymphoma (B-cell NHL) cell lines A-20. Even though previously used as a model for testing of, for example, dexametason, up to present, no data in the genetic properties of A-20 were available. The present study closed this gap and provides evidence that A-20 is a model for B-cell NHL subgroup sporadic Burkitt's lymphoma. C-myc oncogene is involved in a translocation and copy number alterations as gain of murine 14q material could be observed...
September 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#17
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900090/-method-for-the-molecular-cytogenetic-visualization-of-fragile-site-fraxa
#18
T S Bobokova, N A Lemskaya, I S Kolesnikova, D V Yudkin
Fragile X syndrome is one of the most common reasons for human hereditary mental retardation. It is associated with the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene, which results in the suppression of its expression and the development of the disease. At present, methods based on PCR and Southern blot analysis are used for diagnostics of the fragile X syndrome. The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. We developed a method of visualizing this site in cell cultures obtained from patients using the fluorescent in situ hybridization (FISH) and the combination of two probes...
July 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28877741/morphometric-variability-among-the-species-of-the-sordida-subcomplex-hemiptera-reduviidae-triatominae-evidence-for-differentiation-across-the-distribution-range-of-triatoma-sordida
#19
Julieta Nattero, Romina Valeria Piccinali, Catarina Macedo Lopes, María Laura Hernández, Luciana Abrahan, Patricia Alejandra Lobbia, Claudia Susana Rodríguez, Ana Laura Carbajal de la Fuente
BACKGROUND: The Sordida subcomplex (Triatominae) comprises four species, Triatoma garciabesi, T. guasayana, T. patagonica and T. sordida, which differ in epidemiological importance and adaptations to human environments. Some morphological similarities among species make taxonomic identification, population differentiation and species delimitation controversial. Triatoma garciabesi and T. sordida are the most similar species, having been considered alternatively two and a single species until T...
September 6, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28832804/complex-karyotype-including-ring-chromosome-11-in-a-patient-with-acute-myeloid-leukemia-case-report
#20
Maria Helena Faria Ornellas, Maria Christina Paixão Maioli, Stella Beatriz Sampaio Gonçalves de Lucena, Elenice Ferreira Bastos, Tatiana Silva Chaves, Karina Vieira de Melo, Marilza de Moura Ribeiro-Carvalho, Thomas Liehr, Gilda Alves
CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnosis. Classical and molecular cytogenetic analyses, using GTG banding and FISH (fluorescence in situ hybridization), revealed the presence of complex structural rearrangement involving r(11), add(12)(p13), der(5) and der(13)...
August 21, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
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