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https://www.readbyqxmd.com/read/28227475/label-free-detection-of-sex-determining-region-y-sry-via-capacitive-biosensor
#1
Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Khaled Nabil Salama, Shilpa Sivashankar, Sumeyra Agambayev, Christos Sapsanis, Ulrich Buttner
In this work, we present for the first time, the use of a simple fractal capacitive biosensor for the quantification and detection of sex-determining region Y (SRY) genes. This section of genetic code, which is found on the Y chromosome, finds importance for study as it causes fetuses to develop characteristics of male sex-like gonads when a mutation occurs. It is also an important genetic code in men, and disorders involving the SRY gene can cause infertility and sexual malfunction that lead to a variety of gene mutational disorders...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226398/dysregulation-of-interleukin-5-expression-in-familial-eosinophilia
#2
Senbagavalli Prakash Babu, Yun-Yun K Chen, Sandra Bonne-Annee, Jun Yang, Irina Maric, Timothy G Myers, Thomas B Nutman, Amy D Klion
BACKGROUND: Familial eosinophilia (FE) is a rare autosomal dominant inherited disorder characterized by the presence of lifelong peripheral eosinophilia (>1500/μL). Mapped to chromosome 5q31-q33, the genetic cause of FE is unknown, and prior studies have failed to demonstrate a primary abnormality in the eosinophil lineage. OBJECTIVE: The aim of the present study was to identify the cells driving the eosinophilia in FE. METHODS: Microarray analysis and real-time PCR were used to examine transcriptional differences in peripheral blood mononuclear cells (PBMC), and in purified cell subsets from affected and unaffected family members belonging to a single large kindred...
February 22, 2017: Allergy
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#3
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28225863/radiation-exposure-and-thyroid-cancer-a-review
#4
Maria Laura Iglesias, Angelica Schmidt, Abir Al Ghuzlan, Ludovic Lacroix, Florent de Vathaire, Sylvie Chevillard, Martin Schlumberger
The association between radiation exposure and the occurrence of thyroid cancer has been well documented, and the two main risk factors for the development of a thyroid cancer are the radiation dose delivered to the thyroid gland and the age at exposure. The risk increases after exposure to a mean dose of more than 0.05-0.1 Gy (50-100mGy). The risk is more important during childhood and decreases with increased age at exposure, being low in adults. After exposure, the minimum latency period before the appearance of thyroid cancers is 5 to 10 years...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225168/correlations-between-epstein-barr-virus-and-acute-leukemia
#5
Hongzai Guan, Hongxia Miao, Na Ma, Wei Lu, Bing Luo
Infection with Epstein-Barr virus (EBV) may be correlated to the onset of acute leukemia (AL). Studies were performed to investigate the relationship between EBV infection and immunophenotyping of acute lymphoblastic leukemia (ALL) and chromosome aberrations. Additionally, the effects of EBV on clinical prognosis were described. Fluorescence quantitative polymerase chain reaction (FQ-PCR) was used to detect EBV-DNA copy numbers from bone marrow in 110 cases of patients with ALL, 75 cases of patients with myeloid leukemia (AML) and 37 cases of hematologically healthy control subjects...
February 22, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28225067/generation-of-gross-chromosomal-rearrangements-by-a-single-engineered-dna-double-strand-break
#6
Zhijun Qiu, Zhenhua Zhang, Anna Roschke, Tamas Varga, Peter D Aplan
Gross chromosomal rearrangements (GCRs), including translocations, inversions amplifications, and deletions, can be causal events leading to malignant transformation. GCRs are thought to be triggered by DNA double strand breaks (DSBs), which in turn can be spontaneous or induced by external agents (eg. cytotoxic chemotherapy, ionizing radiation). It has been shown that induction of DNA DSBs at two defined loci can produce stable balanced chromosomal translocations, however, a single engineered DNA DSB could not...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224765/dysregulation-of-telomere-lengths-and-telomerase-activity-in-myelodysplastic-syndrome
#7
Hee Sue Park, Jungeun Choi, Cha Ja See, Jung Ah Kim, Si Nae Park, Kyongok Im, Sung Min Kim, Dong Soon Lee, Sang Mee Hwang
BACKGROUND: Telomere shortening is thought to be involved in the pathophysiology of myeloid malignancies, but telomere lengths (TL) during interphase and metaphase in hematopoietic malignancies have not been analyzed. We aimed to assess the TLs of interphase and metaphase cells of MDS and telomerase activity (TA) and to find out prognostic significances of TL and TA. METHODS: The prognostic significance of TA by quantitative PCR and TL by quantitative fluorescence in situ hybridization (QFISH) of interphase nuclei and metaphase chromosome arms of bone marrow cells from patients with MDS were evaluated...
May 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28224759/genomic-variants-at-20p11-associated-with-body-fat-mass-in-the-european-population
#8
Yu-Fang Pei, Hai-Gang Ren, Lu Liu, Xiao Li, Chen Fang, Yun Huang, Wen-Zhu Hu, Wei-Wen Kong, An-Ping Feng, Xin-Yi You, Wen Zhao, Hui Shen, Qing Tian, Yong-Hong Zhang, Hong-Wen Deng, Lei Zhang
OBJECTIVE: Body fat mass (BFM) is more homogeneous and accurate than body total mass in measuring obesity but has rarely been studied. Aiming to uncover the genetic basis of fat-induced obesity, a genome-wide association meta-analysis of BFM, after adjustment by body lean mass, was performed in the European population. METHODS: Three samples of European ancestry were included in the meta-analysis: the Framingham Heart Study (N = 6,004), the Kansas City osteoporosis study (N = 2,207), and the Omaha osteoporosis study (N = 968)...
February 22, 2017: Obesity
https://www.readbyqxmd.com/read/28224649/sex-chromosomal-abnormalities-associated-with-equine-infertility-validation-of-a-simple-molecular-screening-tool-in-the-purebred-spanish-horse
#9
G Anaya, A Molina, M Valera, M Moreno-Millán, P Azor, P Peral-García, S Demyda-Peyrás
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool...
February 22, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28224300/nilotinib-first-line-therapy-in-patients-with-philadelphia-chromosome-negative-bcr-abl-positive-chronic-myeloid-leukemia-in-chronic-phase-enest1st-sub-analysis
#10
Andreas Hochhaus, Franҫois-Xavier Mahon, Philipp le Coutre, Ljubomir Petrov, Jeroen J W M Janssen, Nicholas C P Cross, Delphine Rea, Fausto Castagnetti, Andrzej Hellmann, Gianantonio Rosti, Norbert Gattermann, Maria Liz Paciello Coronel, Maria Asuncion Echeveste Gutierrez, Valentin Garcia-Gutierrez, Beatrice Vincenzi, Luca Dezzani, Francis J Giles
PURPOSE: The ENEST1st sub-analysis presents data based on Philadelphia chromosome (Ph) status, i.e., Ph+ and Ph-/BCR-ABL1 + chronic myeloid leukemia. METHODS: Patients received nilotinib 300 mg twice daily, up to 24 months. RESULTS: At screening, 983 patients were identified as Ph+ and 30 patients as Ph-/BCR-ABL + based on cytogenetic and RT-PCR assessment; 76 patients had unknown karyotype (excluded from this sub-analysis). In the Ph-/BCR-ABL1 + subgroup, no additional chromosomal aberrations were reported...
February 21, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28224202/germline-specific-dgcr8-knockout-in-zebrafish-using-a-back-approach
#11
Yun Liu, Zeyao Zhu, Idy H T Ho, Yujian Shi, Yuxin Xie, Jianzhen Li, Yong Zhang, Matthew T V Chan, Christopher H K Cheng
Zebrafish is an important model to study developmental biology and human diseases. However, an effective approach to achieve spatial and temporal gene knockout in zebrafish has not been well established. In this study, we have developed a new approach, namely bacterial artificial chromosome-rescue-based knockout (BACK), to achieve conditional gene knockout in zebrafish using the Cre/loxP system. We have successfully deleted the DiGeorge syndrome critical region gene 8 (dgcr8) in zebrafish germ line and demonstrated that the maternal-zygotic dgcr8 (MZdgcr8) embryos exhibit MZdicer-like phenotypes with morphological defects which could be rescued by miR-430, indicating that canonical microRNAs play critical role in early development...
February 21, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28224137/hmgb1-anti-hmgb1-antibodies-define-a-molecular-signature-of-early-stages-of-hiv-associated-neurocognitive-isorders-hand
#12
Marie-Lise Gougeon, Béatrice Poirier-Beaudouin, Jacques Durant, Christine Lebrun-Frenay, Héla Saïdi, Valérie Seffer, Michel Ticchioni, Stephane Chanalet, Helene Carsenti, Alexandra Harvey-Langton, Muriel Laffon, Jacqueline Cottalorda, Christian Pradier, Pierre Dellamonica, Matteo Vassallo
BACKGROUND: HIV-associated neurocognitive disorders (HAND) persist in the post-HAART era, characterized by asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorders (MND). High mobility group box 1 (HMGB1) is a non-histone chromosomal protein widely expressed in the nucleus of all eukaryotic cells, including brain cells, which acts as a potent proinflammatory cytokine when actively secreted from immune cells. Recent reports suggested that HMGB1 acts on microglial cells to promote neuroinflammation...
February 2017: Heliyon
https://www.readbyqxmd.com/read/28224092/language-and-cognitive-outcome-for-high-risk-neonates-at-the-age-of-2-3-years-experience-from-an-arab-country
#13
Tamer Abou-Elsaad, Hesham Abdel-Hady, Hemmat Baz, Doaa ElShabrawi
AIM: To investigate the effect of different neonatal risk factors on different language parameters as well as cognitive abilities among Arabic speaking Egyptian children at the age of two to three years of life and to find out which risk factor(s) had the greatest impact on language and cognitive abilities. METHODS: This retrospective cohort study was conducted on 103 children with age range of 2-3 years (median age 31 mo). They were 62 males and 41 females who were exposed to different high-risk factors in the perinatal period, with exclusion of metabolic disorders, sepsis/meningitis, congenital anomalies and chromosomal aberrations...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28223988/the-impact-of-genotyping-by-sequencing-pipelines-on-snp-discovery-and-identification-of-markers-associated-with-verticillium-wilt-resistance-in-autotetraploid-alfalfa-medicago-sativa-l
#14
Long-Xi Yu, Ping Zheng, Suresh Bhamidimarri, Xiang-Ping Liu, Dorie Main
Verticillium wilt (VW) of alfalfa is a soilborne disease causing severe yield loss in alfalfa. To identify molecular markers associated with VW resistance, we used an integrated framework of genome-wide association study (GWAS) with high-throughput genotyping by sequencing (GBS) to identify loci associated with VW resistance in an F1 full-sib alfalfa population. Phenotyping was performed using manual inoculation of the pathogen to cloned plants of each individual and disease severity was scored using a standard scale...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28223694/combination-of-ruthenium-ii-arene-complex-ru-%C3%AE-6-p-cymene-cl2-pta-rapta-c-and-the-epidermal-growth-factor-receptor-inhibitor-erlotinib-results-in-efficient-angiostatic-and-antitumor-activity
#15
Robert H Berndsen, Andrea Weiss, U Kulsoom Abdul, Tse J Wong, Patrick Meraldi, Arjan W Griffioen, Paul J Dyson, Patrycja Nowak-Sliwinska
Ruthenium-based compounds show strong potential as anti-cancer drugs and are being investigated as alternatives to other well-established metal-based chemotherapeutics. The organometallic compound [Ru(η(6)-p-cymene)Cl2(pta)], where pta = 1,3,5-triaza-7-phosphaadamantane (RAPTA-C) exhibits broad acting anti-tumor efficacy with intrinsic angiostatic activity. In the search for an optimal anti-angiogenesis drug combination, we identified synergistic potential between RAPTA-C and the epidermal growth factor receptor (EGFR) inhibitor, erlotinib...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28223544/hdac8-functions-in-spindle-assembly-during-mouse-oocyte-meiosis
#16
Kemei Zhang, Yajuan Lu, Chaohua Jiang, Wei Liu, Jing Shu, Xueqin Chen, Yingjiao Shi, Ensheng Wang, Li Wang, Qinbo Hu, Yibo Dai, Bo Xiong
HDAC8 is a class I histone deacetylase that functions in a variety of biological processes through its non-histone substrates. However, its roles during oocyte meiosis remain elusive. Here, we document that HDAC8 localizes at spindle poles and positively participates in the regulation of microtubule organization and spindle assembly in mouse oocytes. Depletion of HDAC8 by siRNA-based gene silencing results in various spindle defects and chromosome misalignment during oocyte meiotic maturation, accompanied by impaired kinetochore-microtubule attachments...
February 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28223527/ancient-x-chromosomes-reveal-contrasting-sex-bias-in-neolithic-and-bronze-age-eurasian-migrations
#17
Amy Goldberg, Torsten Günther, Noah A Rosenberg, Mattias Jakobsson
Dramatic events in human prehistory, such as the spread of agriculture to Europe from Anatolia and the late Neolithic/Bronze Age migration from the Pontic-Caspian Steppe, can be investigated using patterns of genetic variation among the people who lived in those times. In particular, studies of differing female and male demographic histories on the basis of ancient genomes can provide information about complexities of social structures and cultural interactions in prehistoric populations. We use a mechanistic admixture model to compare the sex-specifically-inherited X chromosome with the autosomes in 20 early Neolithic and 16 late Neolithic/Bronze Age human remains...
February 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28223454/dynamic-expansion-and-contraction-of-caga-copy-number-in-helicobacter-pylori-impact-development-of-gastric-disease
#18
Sungil Jang, Hanfu Su, Faith C Blum, Sarang Bae, Yun Hui Choi, Aeryun Kim, Youngmin A Hong, Jinmoon Kim, Ji-Hye Kim, Niluka Gunawardhana, Yeong-Eui Jeon, Yun-Jung Yoo, D Scott Merrell, Linhu Ge, Jeong-Heon Cha
Infection with Helicobacter pylori is a major risk factor for development of gastric disease, including gastric cancer. Patients infected with H. pylori strains that express CagA are at even greater risk of gastric carcinoma. Given the importance of CagA, this report describes a new molecular mechanism by which the cagA copy number dynamically expands and contracts in H. pylori Analysis of strain PMSS1 revealed a heterogeneous population in terms of numbers of cagA copies; strains carried from zero to four copies of cagA that were arranged as direct repeats within the chromosome...
February 21, 2017: MBio
https://www.readbyqxmd.com/read/28223406/sex-drives-dimorphic-immune-responses-to-viral-infections
#19
REVIEW
Soumitra Ghosh, Robyn S Klein
New attention to sexual dimorphism in normal mammalian physiology and disease has uncovered a previously unappreciated breadth of mechanisms by which females and males differentially exhibit quantitative phenotypes. Thus, in addition to the established modifying effects of hormones, which prenatally and postpubertally pattern cells and tissues in a sexually dimorphic fashion, sex differences are caused by extragonadal and dosage effects of genes encoded on sex chromosomes. Sex differences in immune responses, especially during autoimmunity, have been studied predominantly within the context of sex hormone effects...
March 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28223399/centromere-location-in-arabidopsis-is-unaltered-by-extreme-divergence-in-cenh3-protein-sequence
#20
Shamoni Maheshwari, Takayoshi Ishii, C Titus Brown, Andreas Houben, Luca Comai
During cell division, spindle fibers attach to chromosomes at centromeres. The DNA sequence at regional centromeres is fast evolving with no conserved genetic signature for centromere identity. Instead CENH3, a centromere-specific histone H3 variant, is the epigenetic signature that specifies centromere location across both plant and animal kingdoms. Paradoxically, CENH3 is also adaptively evolving. An ongoing question is whether CENH3 evolution is driven by a functional relationship with the underlying DNA sequence...
February 21, 2017: Genome Research
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