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https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#1
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29040498/genome-stability-of-bovine-in-vivo-conceived-cleavage-stage-embryos-is-higher-compared-to-invitro-produced-embryos
#2
Olga Tšuiko, Maaike Catteeuw, Masoud Zamani Esteki, Aspasia Destouni, Osvaldo Bogado Pascottini, Urban Besenfelder, Vitezslav Havlicek, Katrien Smits, Ants Kurg, Andres Salumets, Thomas D'Hooghe, Thierry Voet, Ann Van Soom, Joris Robert Vermeesch
STUDY QUESTION: Is the rate and nature of chromosome instability (CIN) similar between bovine in vivo-derived and in vitro-cultured cleavage-stage embryos? SUMMARY ANSWER: There is a major difference regarding chromosome stability of in vivo-derived and in vitro-cultured embryos, as CIN is significantly lower in in vivo-derived cleavage-stage embryos compared to in vitro-cultured embryos. WHAT IS KNOWN ALREADY: CIN is common during in vitro embryogenesis and is associated with early embryonic loss in humans, but the stability of in vivo-conceived cleavage-stage embryos remains largely unknown...
September 23, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#3
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29034209/bridge-induced-translocation-between-nup145-and-top2-yeast-genes-models-the-genetic-fusion-between-the-human-orthologs-associated-with-acute-myeloid-leukemia
#4
Valentina Tosato, Nicole West, Jan Zrimec, Dmitri V Nikitin, Giannino Del Sal, Roberto Marano, Michael Breitenbach, Carlo V Bruschi
In mammalian organisms liquid tumors such as acute myeloid leukemia (AML) are related to spontaneous chromosomal translocations ensuing in gene fusions. We previously developed a system named bridge-induced translocation (BIT) that allows linking together two different chromosomes exploiting the strong endogenous homologous recombination system of the yeast Saccharomyces cerevisiae. The BIT system generates a heterogeneous population of cells with different aneuploidies and severe aberrant phenotypes reminiscent of a cancerogenic transformation...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29029550/b-lymphoblastic-leukemia-lymphoma-new-insights-into-genetics-molecular-aberrations-subclassification-and-targeted-therapy
#5
REVIEW
Xiaohui Zhang, Prerna Rastogi, Bijal Shah, Ling Zhang
B lymphoblastic leukemia/lymphoma (B-ALL) is a clonal hematopoietic stem cell neoplasm derived from B-cell progenitors, which mostly occurs in children and adolescents and is regarded as one of top leading causes of death related to malignancies in this population. Despite the majority of patients with B-ALL have fairly good response to conventional chemotherapeutic interventions followed by hematopoietic stem cell transplant for the last decades, a subpopulation of patients show chemo-resistance and a high relapse rate...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29025057/nqo2-inhibition-relieves-ros-effects-on-mouse-oocyte-meiotic-maturation-and-embryo-development
#6
Dandan Chen, Xin Li, Xiaoyun Liu, Xiaoyu Liu, Xiuying Jiang, Juan Du, Qian Wang, Yuanjing Liang, Wei Ma
NRH: quinone oxidoreductase 2 (NQO2) is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone to hydroquinones. Herein, we assessed the protein expression, subcellular localization and possible functions of NQO2 in mouse oocyte meiotic maturation and embryo development. Western blot analysis detected high and stable protein expression of NQO2 in mouse oocytes during meiotic progression. Immunofluorescence illustrated NQO2 distribution on nuclear membrane, chromosomes and meiotic spindles...
September 4, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29023247/mir-449a-a-potential-therapeutic-agent-for-cancer
#7
He Yong-Ming, Ji Ai-Jun, Xu Xiao-Yue, Lu Jian-Wei, Yu Chen, Chen Ye
MicroRNAs (miRNAs) have been reported to be associated with cancer progression and carcinogenesis. They are small, highly conserved, noncoding RNA molecules consisting of 19-25 nucleotides. By binding to complementary binding sites within the 3'-untranslated region of target mRNAs, miRNAs inhibit the translation of mRNAs or promote their degradation. miRNAs play critical roles in cancer initiation and development by functioning either as oncogenes or as tumor suppressors. Similarly, several studies have shown that miRNAs are involved in regulating various biological processes, including apoptosis, proliferation, cellular differentiation, signal transduction, and carcinogenesis...
November 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29021797/the-rice-aaa-atpase-osfignl1-is-essential-for-male-meiosis
#8
Peipei Zhang, Yingxin Zhang, Lianping Sun, Sittipun Sinumporn, Zhengfu Yang, Bin Sun, Dandan Xuan, Zihe Li, Ping Yu, Weixun Wu, Kejian Wang, Liyong Cao, Shihua Cheng
Meiosis is crucial in reproduction of plants and ensuring genetic diversity. Although several genes involved in homologous recombination and DNA repair have been reported, their functions in rice (Oryza sativa) male meiosis remain poorly understood. Here, we isolated and characterized the rice OsFIGNL1 (OsFidgetin-like 1) gene, encoding a conserved AAA-ATPase, and explored its function and importance in male meiosis and pollen formation. The rice Osfignl1 mutant exhibited normal vegetative growth, but failed to produce seeds and displayed pollen abortion phenotype...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#9
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28993849/identification-of-novel-congenital-heart-disease-candidate-genes-using-chromosome-microarray
#10
Enas Shanshen, Janine Rosenberg, Andrew H Van Bergen
While the majority of patients have isolated heart disease, congenital heart disease (CHD) may be associated with other congenital anomalies or syndromes. Our institution utilizes chromosomal microarray (CMA) to identify chromosomal abnormalities, specifically copy number variations (CNVs). While CNVs have been associated with CHD, their direct impact on cardiac development remains unclear. This study sought to identify potential novel CHD candidate genes by comparing CNVs present in our institution's CHD population with those already recognized in the literature...
October 9, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28990460/amplification-of-specific-chromosomal-regions-assessed-by-fluorescent-in-situ-hybridization-on-pap-smears-to-be-added-as-screening-tool-for-identifying-women-at-risk-of-progressing-to-cervical-cancer
#11
Pavani Upendram, Shubhi Sahni, Khaliq Mohiuddin, Subhadra Poornima, Bhanumathy Gourishankar, Kiran Kumar Vattam, Pavani Boddala, E Jayashankar, Shakera Mohiuddin, Vasundhara Kamineni, Vasavi Mohan, Jane Houldsworth, Qurratulain Hasan
Cervical carcinoma is a frequent malignancy in developing countries despite being a preventable disease. For the first time, four screening tests were used simultaneously for identifying women with a risk of developing cervical cancer, to help clinicians and policy makers to implement the best strategy for reducing the burden of this disease. Women visiting a hospital in India were enrolled after institutional ethics clearance and informed consent. Visual inspection using acetic acid and Pap smear tests were performed on 2683 women, and 104 had abnormal cytology: atypical squamous cells of undetermined significance (n = 29), low-grade squamous intraepithelial lesion (n = 41), high-grade squamous intraepithelial lesion (n = 17), and squamous cell carcinoma (n = 17)...
October 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28990258/baseline-connectome-modular-abnormalities-in-the-childhood-phase-of-a-longitudinal-study-on-individuals-with-chromosome-22q11-2-deletion-syndrome
#12
Liang Zhan, Lisanne M Jenkins, Aifeng Zhang, Giorgio Conte, Angus Forbes, Danielle Harvey, Kathleen Angkustsiri, Naomi J Goodrich-Hunsaker, Courtney Durdle, Aaron Lee, Cyndi Schumann, Owen Carmichael, Kristopher Kalish, Alex D Leow, Tony J Simon
Occurring in at least 1 in 3,000 live births, chromosome 22q11.2 deletion syndrome (22q11DS) produces a complex phenotype that includes a constellation of medical complications such as congenital cardiac defects, immune deficiency, velopharyngeal dysfunction, and characteristic facial dysmorphic features. There is also an increased incidence of psychiatric diagnosis, especially intellectual disability and ADHD in childhood, lifelong anxiety, and a strikingly high rate of schizophrenia spectrum disorders, which occur in around 30% of adults with 22q11DS...
October 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28981371/interphase-chromosome-profiling-a-method-for-conventional-banded-chromosome-analysis-using-interphase-nuclei
#13
Ramesh Babu, Daniel L Van Dyke, Vaithilingam G Dev, Prasad Koduru, Nagesh Rao, Navnit S Mitter, Mingya Liu, Ernesto Fuentes, Sarah Fuentes, Stephen Papa
CONTEXT: - Chromosome analysis on bone marrow or peripheral blood samples fails in a small proportion of attempts. A method that is more reliable, with similar or better resolution, would be a welcome addition to the armamentarium of the cytogenetics laboratory. OBJECTIVE: - To develop a method similar to banded metaphase chromosome analysis that relies only on interphase nuclei. DESIGN: - To label multiple targets in an equidistant fashion along the entire length of each chromosome, including landmark subtelomere and centromere regions...
October 5, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28980227/sex-determining-mechanism-in-avians
#14
Asato Kuroiwa
The sex of birds is determined by inheritance of sex chromosomes at fertilization. The embryo with two Z chromosomes (ZZ) develops into a male; by contrast, the embryo with Z and W chromosomes (ZW) becomes female. Two theories are hypothesized for the mechanisms of avian sex determination that explain how genes carried on sex chromosomes control gonadal differentiation and development during embryogenesis. One proposes that the dosage of genes on the Z chromosome determines the sexual differentiation of undifferentiated gonads, and the other proposes that W-linked genes dominantly determine ovary differentiation or inhibit testis differentiation...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28978838/chronic-lymphocytic-leukemia-biology-disease-progression-and-current-treatment-strategies
#15
Takahiro Yano
Chronic lymphocytic leukemia (CLL) is characterized by clonal proliferation and accumulation of mature CD5-positive, CD10-negative, CD20 weakly positive, and CD23-positive B-cells within blood, bone marrow, lymph nodes, and spleen. In proliferation centers, the survival and growth of CLL cells requires a permissive microenvironment comprising T-cells, macrophages, and stromal cells. FISH analysis has revealed that almost 80% of CLL cases carry chromosomal abnormalities including the most frequent del (13q14) and the strongest poor prognostic factor del (17p), both related to TP53 mutations...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28977983/techniques-for-detecting-chromosomal-aberrations-in-myelodysplastic-syndromes
#16
REVIEW
Qibin Song, Min Peng, Yuxin Chu, Shiang Huang
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28976606/the-significance-of-placental-cord-insertion-site-in-twin-pregnancy
#17
Erkan Kalafat, Basky Thilaganathan, Aris Papageorghiou, Amar Bhide, Asma Khalil
OBJECTIVE: The aim of this study was to investigate the association between abnormal cord insertion and the development of the twin-specific complications, including birthweight discordance, selective fetal growth restriction (sFGR) and twin-to-twin transfusion syndrome (TTTS). METHODS: A single-center cohort study of twin pregnancies. Abnormal cord insertion was defined as either marginal (cord attachment site less than 2cm to the nearest margin of the placental disc) or velamentous (when the umbilical cord was attached to the membrane before reaching the placental disc with clear evidence of vessels traversing the membranes to connect with the placental disc), as described in placental pathology reports...
October 4, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28969278/expressional-analysis-of-msx1-human-revealed-its-role-in-sagittal-jaw-relationship
#18
Prateek Gupta, Thakur Prasad Chaturvedi, Vipul Sharma
INTRODUCTION: Abnormal skeletal jaw relationships is an important factor causing difficulty in speech, mastication, sleep and social interaction, thus affect the overall well being of an individual. AIM: The present study was an attempt to decipher the role of human MSX1 in terms of sagittal jaw relationship by employing Polymerase Chain Reaction (PCR) based analysis. MATERIALS AND METHODS: Ninety-eight case subjects belonging to North India with skeletal Class II and Class III jaw relationships were selected...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28967604/-neonatal-presentation-of-prader-willi-syndrome-a-report-of-five-cases
#19
B Richard-De Ceaurriz, C Leymarie, A Godefroy, P Collignon, S Sigaudy, P Truc
Prader-Willi syndrome (PWS) is a fingerprint disease caused by the loss of paternally inherited chromosome 15q11.2-q13. In several populations studied, prevalence is estimated to be from 1/10,000 to 1/25,000 births. The disease initially manifests by neonatal hypotonia associated with orality disorders. Secondly, hyperphagia appears with significant obesity and hypogonadism. Motor milestones and language development are delayed, and all individuals have variable degrees of cognitive disability during childhood...
September 26, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28965243/prediction-of-a-rare-chromosomal-aberration-simultaneously-with-next-generation-sequencing-based-comprehensive-chromosome-screening-in-human-preimplantation-embryos-for-recurrent-pregnancy-loss
#20
Yi-Xuan Lee, Chien-Wen Chen, Yi-Hui Lin, Chii-Ruey Tzeng, Chi-Huang Chen
Preimplantation genetic testing has been used widely in recent years as a part of assisted reproductive technology (ART) owing to the breakthrough development of deoxyribonucleic acid (DNA) sequencing. With the advancement of technology and increased resolution of next generation sequencing (NGS), extensive comprehensive chromosome screening along with small clinically significant deletions and duplications can possibly be performed simultaneously. Here, we present a case of rare chromosomal aberrations: 46,XY,dup(15)(q11...
September 30, 2017: Journal of Assisted Reproduction and Genetics
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