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chromosomal abnormalities in human development

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https://www.readbyqxmd.com/read/29769340/the-htlv-1-basic-leucine-zipper-factor-hbz-attenuates-repair-of-double-stranded-dna-breaks-via-non-homologous-end-joining-nhej
#1
A W Rushing, K Hoang, N Polakowski, I Lemasson
Adult T-cell leukemia (ATL) is a fatal malignancy of CD4+ T-cells infected with human T-cell leukemia virus type I (HTLV-1). ATL cells often exhibit random gross chromosomal rearrangements that are associated with the induction and improper repair of double-stranded DNA breaks (DSBs). The viral oncoprotein Tax has been reported to impair DSB repair, but is not shown to be consistently expressed throughout all phases of infection. The viral oncoprotein HTLV-1 basic leucine zipper factor (HBZ) is consistently expressed prior to and throughout disease progression, but it is unclear whether it also influences DSB repair...
May 16, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29763708/pcdh19-regulation-of-neural-progenitor-cell-differentiation-suggests-asynchrony-of-neurogenesis-as-a-mechanism-contributing-to-pcdh19-girls-clustering-epilepsy
#2
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark Corbett, Ernst Wolvetang, Paul Thomas, Lachlan A Jolly, Jozef Gecz
PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. PCDH19-GCE is caused by heterozygous loss-of-function mutations in the X-chromosome gene, Protocadherin 19 (PCDH19) encoding a cell-cell adhesion molecule. Intriguingly, hemizygous males are generally unaffected. As PCDH19 is subjected to random X-inactivation, heterozygous females are comprised of a mosaic of cells expressing either the normal or mutant allele, which is thought to drive pathology...
May 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29749457/downregulation-of-microrna%C3%A2-198-suppresses-cell-proliferation-and-invasion-in-retinoblastoma-by-directly-targeting-pten
#3
Dongdong Wei, Yingbin Miao, Lianxia Yu, Degong Wang, Yingli Wang
A number of studies have highlighted that aberrantly expressed microRNAs (miRNAs/miRs) serve crucial roles in the tumorigenesis and tumor development of retinoblastoma (RB). Hence, a full investigation of the biological roles and regulatory mechanisms of miRNAs in RB may provide novel therapeutic targets for patients with this malignancy. miR‑198 is frequently abnormally expressed in various types of human cancers. However, the expression level, biological roles and underlying mechanisms of miR‑198 in RB remain to be elucidated...
May 7, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29716957/lifespan-analysis-of-brain-development-gene-expression-and-behavioral-phenotypes-in-the-ts1cje-ts65dn-and-dp-16-1-yey-mouse-models-of-down-syndrome
#4
Nadine M Aziz, Faycal Guedj, Jeroen L A Pennings, Jose Luis Olmos-Serrano, Ashley Siegel, Tarik F Haydar, Diana W Bianchi
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in achieving developmental milestones. To determine whether different mouse models of DS recapitulate the human prenatal and postnatal phenotypes, here we directly compared brain histogenesis, gene expression, and behavior over the lifespan of three cytogenetically distinct mouse models of DS: Ts1Cje, Ts65Dn and Dp(16)1/Yey...
April 30, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29707994/high-expression-of-aurora-b-is-correlated-with-poor-prognosis-and-drug-resistance-in-non-small-cell-lung-cancer
#5
JingJing Yu, Jing Zhou, Fei Xu, Wei Bai, Wei Zhang
OBJECTIVE: Aurora kinase B (Aurora-B) is a crucial regulator of accurate mitosis. Abnormal Aurora-B expression is associated with aneuploidy and has been implicated in the pathogenesis and drug resistance in a variety of human cancers. However, little evidence is available regarding the role of Aurora-B in regulating drug response in non-small cell lung cancer (NSCLC), which is the most common type of lung cancer, and is characterized with poor prognosis and high mortality. METHOD: In the current study, we investigated the association of Aurora-B with the prognosis of NSCLC patients, and we also used the latest CRISPR/Cas9 system to explore the regulatory role of Aurora-B in NSCLC cells developing resistance to cisplatin (CDDP) and paclitaxel...
April 1, 2018: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29665256/bcr-abl-enhances-the-prolyl-isomerase-activity-of-pin-1-by-interacting-with-dapk1-in-ph-all
#6
Wen-Bin Cao, Jian-Feng Yao, Si-Zhou Feng, Yi He, Er-Lie Jiang, Rong-Li Zhang, Dong-Lin Yang, Ming Gong, Xiao-Hui Zheng, Shu-Lian Chen, Jia-Li Sun, Lu-Kun Zhou, Ming-Zhe Han
Philadelphia chromosome (Ph)/BCR-ABL-positive (ph+ ) ALL is the most common genetic abnormality associated with ALL and has been shown to confer the worst prognosis to both children and adults. Increasing evidence has revealed that the dysregulation of prolyl isomerase Pin 1 contributes to multicancer development and progression, including ALL, although the underlying molecular mechanisms remain unclear. Here, we report that the expression of Pin 1 was enhanced in ph+ ALL patient samples and was associated positively with the expression of BCR-ABL...
April 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29663734/new-biological-research-and-understanding-of-papanicolaou-s-test
#7
REVIEW
Elizabeth R Smith, Sophia H George, Erin Kobetz, Xiang-Xi Xu
The development of the Papanicolaou smear test by Dr. George Nicholas Papanicolaou (1883-1962) is one of the most significant achievements in screening for disease and cancer prevention in history. The Papanicolaou smear has been used for screening of cervical cancer since the 1950s. The test is technically straightforward and practical and based on a simple scientific observation: malignant cells have an aberrant nuclear morphology that can be distinguished from benign cells. Here, we review the scientific understanding that has been achieved and continues to be made on the causes and consequences of abnormal nuclear morphology, the basis of Dr...
April 16, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29628935/neurodevelopmental-genetic-diseases-associated-with-microdeletions-and-microduplications-of-chromosome-17p13-3
#8
REVIEW
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
https://www.readbyqxmd.com/read/29568894/overexpression-of-satellite-alpha-transcripts-leads-to-chromosomal-instability-via-segregation-errors-at-specific-chromosomes
#9
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
https://www.readbyqxmd.com/read/29564832/time-lapse-imaging-for-the-detection-of-chromosomal-abnormalities-in-primate-preimplantation-embryos
#10
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
https://www.readbyqxmd.com/read/29564816/potential-role-of-chromothripsis-in-the-genesis-of-complex-chromosomal-rearrangements-in-human-gametes-and-preimplantation-embryo
#11
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
https://www.readbyqxmd.com/read/29552152/effects-of-tin2-on-telomeres-and-chromosomes-in-the-human-gastric-epithelial-cell-line-ges-1
#12
Fan Fu, Hua Hu, Shuai Yang, Xiaoqiu Liang
TERF1-interacting nuclear factor 2 (TIN2) is a key member of the protein complexes that protect telomeres. TIN2 contributes an important role in biological processes. In a previous study by the present authors, an association was reported between high TIN2 protein expression and gastric cancer. Therefore, it was hypothesized that abnormal TIN2 expression may cause the development of malignancies, including, gastric carcinomas. To investigate this hypothesis, the present study employed peptide nucleic acid fluorescence in situ hybridization technology to analyze the human gastric epithelial GES-1 cells with high TIN2 expression or inhibited TIN2 expression...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29533680/copy-number-variation-in-fetal-alcohol-spectrum-disorder
#13
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
April 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29529337/copper-supplementation-in-premature-infants-with-parenteral-nutrition-associated-cholestasis
#14
Kunal Gupta, Hongyue Wang, Sanjiv B Amin
The aim of this study was to evaluate the effect of intermittent parenteral copper supplementation (IPC) on serum copper status and biochemical and hematological measures of copper toxicity and deficiency in premature infants with parenteral nutrition (PN)-associated cholestasis (PNAC). We performed a prospective nested observational study in premature infants with PNAC who received IPC after the development of PNAC. Infants with chromosomal disorders, TORCH (toxoplasmosis, parvovirus, syphilis, rubella, cytomegalovirus, herpes, human immunodeficiency virus) infection, metabolic disorder, and/or surgical abnormality of the hepatobiliary system were excluded...
March 12, 2018: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/29470501/tissue-specific-and-mosaic-imprinting-defects-underlie-opposite-congenital-growth-disorders-in-mice
#15
Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome...
February 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29409347/fryl-deficiency-is-associated-with-defective-kidney-development-and-function-in-mice
#16
Yong-Sub Byun, Eun-Kyoung Kim, Kimi Araki, Ken-Ichi Yamamura, Kihoon Lee, Won-Kee Yoon, Young-Suk Won, Hyoung-Chin Kim, Kyung-Chul Choi, Ki-Hoan Nam
FRY like transcription coactivator ( Fryl) gene located on chromosome 5 is a paralog of FRY microtubule binding protein ( Fry) in vertebrates. It encodes a protein with unknown functions. Fryl gene is conserved in various species ranging from eukaryotes to human. Although there are several reports on functions of Fry gene, functions of Fryl gene remain unclear. A mouse line containing null mutation in Fryl gene by gene trapping was produced in this study for the first time. The survival and growth of Fryl-/- mice were observed...
March 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29396392/upregulation-of-kinesin-family-member-4a-enhanced-cell-proliferation-via-activation-of-akt-signaling-and-predicted-a-poor-prognosis-in-hepatocellular-carcinoma
#17
Yanlin Huang, Hongbo Wang, Yifan Lian, Xiaojuan Wu, Liang Zhou, Jialiang Wang, Meihai Deng, Yuehua Huang
Hepatocellular carcinoma (HCC) is the third most frequent cause of cancer-related death worldwide, and the molecular pathogenesis and development of HCC are largely unknown. In the present study, we found that KIF4A expression was upregulated in HCC (678 samples, P = 2.03E-8) based on a meta-analysis of Oncomine database. We further confirmed that both KIF4A mRNA and protein expressions were overexpressed in human HCC tumour tissues as well as cancer cell lines. Higher KIF4A expression was correlated with poorer overall survival (P < 0...
February 2, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29378289/pnma-family-protein-interaction-network-and-cell-signalling-pathways-implicated-in-cancer-and-apoptosis
#18
REVIEW
Siew Wai Pang, Chandrajit Lahiri, Chit Laa Poh, Kuan Onn Tan
Paraneoplastic Ma Family (PNMA) comprises a growing number of family members which share relatively conserved protein sequences encoded by the human genome and is localized to several human chromosomes, including the X-chromosome. Based on sequence analysis, PNMA family members share sequence homology to the Gag protein of LTR retrotransposon, and several family members with aberrant protein expressions have been reported to be closely associated with the human Paraneoplastic Disorder (PND). In addition, gene mutations of specific members of PNMA family are known to be associated with human mental retardation or 3-M syndrome consisting of restrictive post-natal growth or dwarfism, and development of skeletal abnormalities...
May 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29364376/-maxillary-lateral-incisor-partial-anodontia-sequence-a-clinical-entity-with-epigenetic-origin
#19
Alberto Consolaro, Maurício Almeida Cardoso, Renata Bianco Consolaro
The relationship between maxillary lateral incisor anodontia and the palatal displacement of unerupted maxillary canines cannot be considered as a multiple tooth abnormality with defined genetic etiology in order to be regarded as a "syndrome". Neither were the involved genes identified and located in the human genome, nor was it presumed on which chromosome the responsible gene would be located. The palatal maxillary canine displacement in cases of partial anodontia of the maxillary lateral incisor is potentially associated with environmental changes caused by its absence in its place of formation and eruption, which would characterize an epigenetic etiology...
November 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/29357025/a-higher-incidence-of-cleavage-failure-in-oocytes-containing-smooth-endoplasmic-reticulum-clusters
#20
Junko Otsuki, T Iwasaki, Y Katada, Y Tsutsumi, Y Tsuji, K Furuhashi, S Kokeguchi, M Shiotani
PURPOSE: In human oocytes, sERCs are one of the dysmorphic phenotypes that have been reported. Significantly reduced pregnancy rates and a comparatively higher number of abnormities in live births appear to be associated with the presence of sERCs in oocytes. However, some reports have shown that healthy babies can be born, without any reduced pregnancy rates, from oocytes observed to contain sERCs. Thus, the clinical and scientific significance of oocytes that harbor sERCs remains controversial...
January 22, 2018: Journal of Assisted Reproduction and Genetics
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