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chromosomal abnormalities development

Mélanie A Cron, Solène Maillard, Fabien Delisle, Nolwenn Samson, Frédérique Truffault, Maria Foti, Elie Fadel, Julien Guihaire, Sonia Berrih-Aknin, Rozen Le Panse
In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. miRNAs by acting as post-transcriptional regulators are involved in autoimmunity. To investigate the implication of miRNAs in thymic changes associated with early-onset MG, we performed a miRnome study and data were analyzed with different approaches. miRNAs of interest were further investigated by RT-PCR and transfection experiments for functional tests...
April 12, 2018: Autoimmunity Reviews
Hagop M Kantarjian, Courtney D DiNardo, Graciela M Nogueras-Gonzalez, Tapan M Kadia, Elias Jabbour, Carlos E Bueso-Ramos, Susan M O'Brien, Marina Konopleva, Nitin B Jain, Naval G Daver, Elizabeth J Shpall, Richard E Champlin, Aron Simkins, Guillermo Garcia-Manero, Michael J Keating, Xuelin Huang, Jorge E Cortes, Sherry A Pierce, Farhad Ravandi, Emil J Freireich
BACKGROUND: The prognosis is poor for patients who have relapsed-refractory acute myelogenous leukemia (AML). Most published reports analyzed results from therapies in first-salvage AML or in studies that were conducted before 2000. Several novel agents and strategies are being tested for potential approval as treatment for patients with relapsed-refractory AML in second salvage. Therefore, it is important to establish the historic results of anti-AML therapies in this setting in the modern era...
April 12, 2018: Cancer
Banu Ahtam, Naira Link, Erikson Hoff, P Ellen Grant, Kiho Im
Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum disorders, epilepsy, schizophrenia, and language and articulation disorders. Here, we provide detailed findings on the disrupted structural brain connectivity in 16p11.2 deletion syndrome (patients: N = 21, age range: 8-16 years; typically developing (TD) controls: 18, 9-16 years) using structural and diffusion MRI. We performed global short-, middle-, long-range, and interhemispheric connectivity analysis in the whole brain using gyral topology-based cortical parcellation...
April 9, 2018: Brain Imaging and Behavior
Sara M Blazejewski, Sarah A Bennison, Trevor H Smith, Kazuhito Toyo-Oka
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However, patients with MDS have larger deletions than patients with ILS, resulting in additional symptoms such as poor muscle tone, congenital anomalies, abnormal spasticity, and craniofacial dysmorphisms...
2018: Frontiers in Genetics
Estephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, Juan F Gomez, Harry Pachajoa
Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome...
2018: Frontiers in Genetics
Yu Uemura, Hirotaka Sakai, Yusuke Saiki, Akiko Uchida, Kazuyuki Sato, Yuka Tsuruoka, Satoshi Yokoi, Yuji Nishio, Manabu Matsunawa, Yoshinori Suzuki, Yasushi Isobe, Masayuki Kato, Naoto Tomita, Yasuyuki Inoue, Ikuo Miura
A 73-year-old man with left parotid gland swelling over 2 months was referred to our hospital in March 201X. Purpura on the lower legs had been recurrent for >20 years. Biopsy of the parotid gland demonstrated diffuse infiltration of abnormal lymphocytes that were negative for CD10 and positive for CD19, CD20, and κ-chain. The Ki-67 positivity was <10%; lymphoepithelial lesions were observed. The patient was diagnosed with extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Janaki D Vakharia, Kristal Matlock, Helena O Taylor, Philippe F Backeljauw, Lisa Swartz Topor
Craniosynostosis is the premature closure of cranial sutures. Primary, or congenital, craniosynostosis is often sporadic but may be associated with genetic or chromosomal abnormalities. Secondary craniosynostosis presents after gestation, and can occur in metabolic bone diseases, including rickets. We describe the first reported cases of primary craniosynostosis in 2 unrelated, term infants with X-linked hypophosphatemic rickets (XLH). The diagnosis of XLH in both patients was confirmed by genetic testing. At the time craniosynostosis was detected, the patient in the first case did not have any other clinical features of XLH...
April 2018: Pediatrics
Erlyana K Clarke, Katherine A Rivera Gomez, Zaki Mustachi, Mikaela C Murph, Mara Schvarzstein
Mechanisms that involve whole genome polyploidy play important roles in development and evolution; also, an abnormal generation of tetraploid cells has been associated with both the progression of cancer and the development of drug resistance. Until now, it has not been feasible to easily manipulate the ploidy of a multicellular animal without generating mostly sterile progeny. Presented here is a simple and rapid protocol for generating tetraploid Caenorhabditis elegans animals from any diploid strain. This method allows the user to create a bias in chromosome segregation during meiosis, ultimately increasing ploidy in C...
March 15, 2018: Journal of Visualized Experiments: JoVE
Nadine Schuler, Jan Palm, Sabine Schmitz, Yvonne Lorat, Claudia E Rübe
Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder characterized by germline mutations of the p53 tumor-suppressor gene. In response to DNA damage, p53 stimulates protective cellular processes including cell-cycle arrest and apoptosis to prevent aberrant cell proliferation. Current cancer therapies involve agents that damage DNA, which also affect non-cancerous hematopoietic stem/progenitor cells. Here, we report on a child with LFS who developed genomic instability during craniospinal irradiation for metastatic choroid plexus carcinoma (CPC)...
December 2017: Clinical and Translational Radiation Oncology
Muhammad A Shahid, Marc S Marenda, Philip F Markham, Amir H Noormohammadi
The temperature-sensitive (ts+) Mycoplasma synoviae vaccine strain MS-H harbors a non-synonymous mutation which results in Glycine to Arginine substitution at position 123 in the highly conserved glycine-rich motif of Obg-fold in the GTP-binding protein Obg. In-silico analysis of the wild-type and mutant Obgs of M. synoviae has indicated that this amino acid substitution affects structure of the protein, potentially leading to abrogation of Obg function in vivo. Present study was conducted to develop the first expression vector for M...
2018: PloS One
Dilberto Ribeiro Arashiro, George Shigueki Yasui, Leonardo Luiz Calado, Nivaldo Ferreira do Nascimento, Matheus Pereira Dos Santos, Silvio Carlos Alves do Santos, Nycolas Levy-Pereira, Paulo Sérgio Monzani, Diógenes Henrique Siqueira-Silva, José Augusto Senhorini
SummaryThe aim of this study was to describe the effect of temperature on the fertilization, early developmental stages, and survival rate of two Neotropical catfishes Pimelodus maculatus and Pseudopimelodus mangurus. After fertilization, the eggs were incubated at 22°C, 26°C, and 30°C, which resulted in fertilization rates of 96.95 ± 1.79%, 98.74 ± 0.76%, and 98.44 ± 0.19% for P. maculatus and 96.10 ± 1.58%, 98.00 ± 0.63%, and 94.60 ± 2.09% for P. mangurus, respectively. For P. maculatus, hatching occurred after 22 h 30 min post-fertilization at 22°C, 16 h 30 min at 26°C, and 11 h 20 min at 30°C, and the hatching rates were 43...
March 28, 2018: Zygote: the Biology of Gametes and Early Embryos
Stefan Nagel, Claudia Pommerenke, Corinna Meyer, Maren Kaufmann, Roderick A F MacLeod, Hans G Drexler
NKL homeobox genes are basic regulators of cell and tissue differentiation, many acting as oncogenes in T-cell leukemia. Recently, we described an hematopoietic NKL-code comprising six particular NKL homeobox genes expressed in hematopoietic stem cells and lymphoid progenitors, unmasking their physiological roles in the development of these cell types. Hodgkin lymphoma (HL) is a B-cell malignancy showing aberrant activity of several developmental genes resulting in disturbed B-cell differentiation. To examine potential concordances in abnormal lymphoid differentiation of T- and B-cell malignancies we analyzed the expression of the hematopoietic NKL-code associated genes in HL, comprising HHEX, HLX, MSX1, NKX2-3, NKX3-1 and NKX6-3...
March 6, 2018: Oncotarget
Ramesh Babu, Daniel L Van Dyke, Saurabh Bhattacharya, Vaithilingam G Dev, Mingya Liu, Minjae Kwon, Guangyu Gu, Prasad Koduru, Nagesh Rao, Cynthia Williamson, Ernesto Fuentes, Sarah Fuentes, Stephen Papa, Srikanthi Kopuri, Vandana Lal
BACKGROUND: Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations with the current approaches of obtaining a karyotype using traditional cytogenetics, fluorescence in situ hybridization with a limited number of probes, and chromosomal microarray...
March 24, 2018: Molecular Genetics & Genomic Medicine
Kosuke Ichida, Koichi Suzuki, Taro Fukui, Yuji Takayama, Nao Kakizawa, Fumiaki Watanabe, Hideki Ishikawa, Yuta Muto, Takaharu Kato, Masaaki Saito, Kazushige Futsuhara, Yasuyuki Miyakura, Hiroshi Noda, Tsukasa Ohmori, Fumio Konishi, Toshiki Rikiyama
The impairment of the stability of the chromosomal structure facilitates the abnormal segregation of chromosomes, thus increasing the risk of carcinogenesis. Chromosomal stability during segregation is managed by appropriate methylation at the centromere of chromosomes. Insufficient methylation, or hypomethylation, results in chromosomal instability. The centromere consists of satellite alpha repetitive sequences, which are ideal targets for DNA hypomethylation, resulting in the overexpression of satellite alpha transcript (SAT)...
March 16, 2018: International Journal of Oncology
Camilla Lykke, Ola Ekholm, Kjeld Schmiegelow, Marianne Olsen, Per Sjøgren
AIM: Specialised paediatric palliative care has not previously been a priority in Denmark. The aim of this study was to support its development and organisation, by examining why and where children died using official national data for 1994-2014. METHODS: We obtained data on 9,462 children who died before the age of 18 from the Danish Register of Causes of Death. The causes of deaths were listed according to the codes in the International Classification of Diseases...
March 22, 2018: Acta Paediatrica
Chen-Yu Lee, Hui-Jun Lin, Kotapati Kasi Viswanath, Chih-Peng Lin, Bill Chia-Han Chang, Pei-Hsun Chiu, Chan-Tai Chiu, Ren-Huang Wang, Shih-Wen Chin, Fure-Chyi Chen
Carica papaya L. is an important economic crop worldwide and is used as a model plant for sex-determination research. To study the different flower sex types, we screened sex-related genes using alternative splicing sequences (AS-seqs) from a transcriptome database of the three flower sex types, i.e., males, females, and hermaphrodites, established at 28 days before flowering using 15 bacterial artificial chromosomes (BACs) of C. papaya L. After screening, the cDNA regions of the three sex-related loci, including short vegetative phase-like (CpSVPL), the chromatin assembly factor 1 subunit A-like (CpCAF1AL), and the somatic embryogenesis receptor kinase (CpSERK), which contained eight sex-related single-nucleotide polymorphisms (SNPs) from the different sex types of C...
2018: PloS One
Brittany L Daughtry, Shawn L Chavez
The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human preimplantation development was first introduced to the in vitro fertilization (IVF) community several decades ago, it was not until relatively recently that TLM systems were commercialized for clinical embryology purposes. Traditionally, human IVF embryos are assessed by successful progression and morphology under a stereomicroscope at distinct time points prior to selection for transfer...
2018: Methods in Molecular Biology
Franck Pellestor, Vincent Gatinois
The discovery of a new class of massive chromosomal rearrangement, baptized chromothripsis, in different cancers and congenital disorders has deeply modified our understanding on the genesis of complex genomic rearrangements. Several mechanisms, involving abortive apoptosis, telomere erosion, mitotic errors, micronuclei formation, and p53 inactivation, might cause chromothripsis. The remarkable point is that all these plausible mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and chromosomal abnormality genesis...
2018: Methods in Molecular Biology
Toshiyuki Harumoto, Takema Fukatsu, Bruno Lemaitre
Male killing is a selfish reproductive manipulation caused by symbiotic bacteria, where male offspring of infected hosts are selectively killed. The underlying mechanisms and the process of their evolution are of great interest not only in terms of fundamental biology, but also their potential applications. The two bacterial Drosophila symbionts, Wolbachia and Spiroplasma , have independently evolved male-killing ability. This raises the question whether the underlying mechanisms share some similarities or are specific to each bacterial species...
March 28, 2018: Proceedings. Biological Sciences
Simeon U Springer, Chung-Hsin Chen, Maria Del Carmen Rodriguez Pena, Lu Li, Christopher Douville, Yuxuan Wang, Joshua David Cohen, Diana Taheri, Natalie Silliman, Joy Schaefer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Bahman Afsari, Aline C Tregnago, Stephania M Bezerra, Christopher VandenBussche, Kazutoshi Fujita, Dilek Ertoy, Isabela W Cunha, Lijia Yu, Trinity J Bivalacqua, Arthur P Grollman, Luis A Diaz, Rachel Karchin, Ludmila Danilova, Chao-Yuan Huang, Chia-Tung Shun, Robert J Turesky, Byeong Hwa Yun, Thomas A Rosenquist, Yeong-Shiau Pu, Ralph H Hruban, Cristian Tomasetti, Nickolas Papadopoulos, Ken W Kinzler, Bert Vogelstein, Kathleen G Dickman, George J Netto
Current non-invasive approaches for detection of urothelial cancers are suboptimal. We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine. UroSEEK incorporates massive parallel sequencing assays for mutations in 11 genes and copy number changes on 39 chromosome arms. In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC. Combined with cytology, UroSEEK detected 95% of patients who developed BC. Of 56 patients with upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors...
March 20, 2018: ELife
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