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https://www.readbyqxmd.com/read/29458235/altered-cortical-development-in-fetuses-with-isolated-non-severe-ventriculomegaly-assessed-by-neurosonography
#1
Nadine Hahner, Bienvenido Puerto, Miriam Perez-Cruz, Catarina Policiano, Elena Monterde, Fatima Crispi, Eduard Gratacos, Elisenda Eixarch
OBJECTIVES: To perform a comprehensive assessment of cortical development in fetuses with isolated non-severe ventriculomegaly (INSVM) by neurosonography. METHODS: We prospectively included 40 fetuses with INSVM and 40 controls. INSVM was defined as atrial width between 10.0 and 14.9mm without associated malformation, infection or chromosomal abnormality. Cortical development was assessed by neurosonography at 26 and 30 weeks of gestation measuring depth of selected sulci and applying a maturation scale from 0 (no appearance) to 5 (maximally developed) of main sulci and areas...
February 19, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29458173/deregulation-of-nrf2-are-signaling-pathway-causes-susceptibility-of-dystrophin-deficient-myotubes-to-menadione-induced-oxidative-stress
#2
Su Jin Choi, Hye Sun Kim
Duchenne muscular dystrophy (DMD) is an X chromosome-linked disorder caused by a mutation in the dystrophin gene. Many previous studies reported that the skeletal muscles of DMD patients were more susceptible to oxidative stress than those of healthy people. However, not much has been known about the responsible mechanism of the differential susceptibility. In this study, we established dystrophin knock-down (DysKD) cell lines by transfection of dystrophin shRNA lentiviral particles into C2 cells and found that DysKD myotubes are more vulnerable to menadione-induced oxidative stress than control myotubes...
February 16, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29457871/a-qtl-on-chromosome-1-modulates-inter-male-aggression-in-mice
#3
Anna Delprato, Brice Bonheur, Marie-Paule Algéo, Alba Murillo, Esha Dhawan, Lu Lu, Robert W Williams, Wim E Crusio
Aggression between male conspecifics is a complex social behavior that is likely modulated by multiple gene variants. In this study the BXD recombinant inbred mouse strains (RIS) were used to map quantitative trait loci (QTLs) underlying behaviors associated with intermale aggression. Four hundred and fifty-seven males from 55 strains (including the parentals) were observed at an age of 13 +/- 1 week in a resident-intruder test following 10 days of isolation. Attack latency was measured directly within a 10 minute time period and the test was repeated 24 hours later...
February 19, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29457415/-preliminary-study-of-intervention-in-effect-of-bushen-huoxue-recipe-on-calcification-of-lumbar-vertebra-cartilage-endplate-of-the-aging-gerbils
#4
Li-Guo Zhu, Ping Zhang, Qing-Hui Song, Wan-Qiang Zhang, Hong-Wei Zhu, Li-Ping Yang, Yan Zhu, Yuan Wang, Ling-Hui Li
OBJECTIVE: To study the effect of Bushen Huoxue decoction on calcification of cartilage endplate in lumbar vertebrae. METHODS: Six healthy male gerbils with 2-month-old were selected as normal control group, and 24 7-month-old healthy male gerbils were fed to 12-month-old to establish the aged gerbil model. Thirty gerbils were randomly divided into five groups as follow: the normal control group ( n =6), model group ( n =6, normal saline 4 ml/kg, intragastric 30 d), Bushen Huoxue low dose group( n =6, 1...
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29456678/association-between-dscr4-gene-methylation-in-plasma-in-early-pregnancy-and-down-s-syndrome
#5
Lingyu Hu, Changju Zhou
Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 ( DSCR4 ) gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29456546/genome-wide-association-studies-and-comparison-of-models-and-cross-validation-strategies-for-genomic-prediction-of-quality-traits-in-advanced-winter-wheat-breeding-lines
#6
Peter S Kristensen, Ahmed Jahoor, Jeppe R Andersen, Fabio Cericola, Jihad Orabi, Luc L Janss, Just Jensen
The aim of the this study was to identify SNP markers associated with five important wheat quality traits (grain protein content, Zeleny sedimentation, test weight, thousand-kernel weight, and falling number), and to investigate the predictive abilities of GBLUP and Bayesian Power Lasso models for genomic prediction of these traits. In total, 635 winter wheat lines from two breeding cycles in the Danish plant breeding company Nordic Seed A/S were phenotyped for the quality traits and genotyped for 10,802 SNPs...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29456482/ring-chromosome-17-not-involving-the-miller-dieker-region-a-case-with-drug-resistant-epilepsy
#7
Antonietta Coppola, Deborah Morrogh, Fiona Farrell, Simona Balestrini, Laura Hernandez-Hernandez, S Krithika, Josemir W Sander, Jonathan J Waters, Sanjay M Sisodiya
Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromosomes, including ring 14, 17, and 20, are strongly associated with seizure disorders. We report an individual with a ring chromosome 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456481/double-interstitial-deletion-of-the-long-arm-of-chromosome-6-in-a-patient-with-pierre-robin-sequence-dysmorphisms-and-severe-developmental-delay
#8
Giulia Parmeggiani, Stefania Bigoni, Barbara Buldrini, Giampaolo Garani, Luigi Clauser, Manilo Galiè, Alessandra Ferlini, Sergio Fini
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456478/proximal-deletion-of-6q-overlapping-with-toriello-carey-facial-phenotype-prenatal-findings-clinical-course-differential-diagnosis-and-review
#9
Sofía Catena, Mariana Aracena, Óscar Pizarro, Karena Espinoza, Guillermo Lay-Son
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456136/a-sex-chromosome-pirna-promotes-robust-dosage-compensation-and-sex-determination-in-c-elegans
#10
Wen Tang, Meetu Seth, Shikui Tu, En-Zhi Shen, Qian Li, Masaki Shirayama, Zhiping Weng, Craig C Mello
In metazoans, Piwi-related Argonaute proteins engage piRNAs (Piwi-interacting small RNAs) to defend the genome against invasive nucleic acids, such as transposable elements. Yet many organisms-including worms and humans-express thousands of piRNAs that do not target transposons, suggesting that piRNA function extends beyond genome defense. Here, we show that the X chromosome-derived piRNA 21ux-1 downregulates XOL-1 (XO Lethal), a master regulator of X chromosome dosage compensation and sex determination in Caenorhabditis elegans...
February 13, 2018: Developmental Cell
https://www.readbyqxmd.com/read/29455826/spontaneous-regression-of-primary-pulmonary-synovial-sarcoma
#11
Hiroaki Tsunezuka, Naoko Miyata, Tatsuo Furuya, Eiichi Konishi, Masayoshi Inoue
We report a rare case of primary pulmonary synovial sarcoma that underwent spontaneous regression after a transbronchial biopsy. A 38-year-old woman with a well-demarcated solitary mass shadow on chest roentgenogram was referred to us. A transbronchial biopsy was performed, and immunohistochemical results as well as detection of SYT-SSX1 (SYnovial sarcoma Translocation-Synovial Sarcoma X chromosome breakpoint) transcripts resulted in a diagnosis of synovial sarcoma. A right lower lobectomy was performed during video-assisted thoracoscopic surgery...
March 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29455671/oncogenic-fusion-proteins-adopt-the-insulin-like-growth-factor-signaling-pathway
#12
REVIEW
Haim Werner, Shilhav Meisel-Sharon, Ilan Bruchim
The insulin-like growth factor-1 receptor (IGF1R) has been identified as a potent anti-apoptotic, pro-survival tyrosine kinase-containing receptor. Overexpression of the IGF1R gene constitutes a typical feature of most human cancers. Consistent with these biological roles, cells expressing high levels of IGF1R are expected not to die, a quintessential feature of cancer cells. Tumor specific chromosomal translocations that disrupt the architecture of transcription factors are a common theme in carcinogenesis...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455667/role-of-non-receptor-tyrosine-kinases-in-hematological-malignances-and-its-targeting-by-natural-products
#13
REVIEW
Kodappully S Siveen, Kirti S Prabhu, Iman W Achkar, Shilpa Kuttikrishnan, Sunitha Shyam, Abdul Q Khan, Maysaloun Merhi, Said Dermime, Shahab Uddin
Tyrosine kinases belong to a family of enzymes that mediate the movement of the phosphate group to tyrosine residues of target protein, thus transmitting signals from the cell surface to cytoplasmic proteins and the nucleus to regulate physiological processes. Non-receptor tyrosine kinases (NRTK) are a sub-group of tyrosine kinases, which can relay intracellular signals originating from extracellular receptor. NRTKs can regulate a huge array of cellular functions such as cell survival, division/propagation and adhesion, gene expression, immune response, etc...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455648/mechanisms-of-receptor-tyrosine-kinase-activation-in-cancer
#14
REVIEW
Zhenfang Du, Christine M Lovly
Receptor tyrosine kinases (RTKs) play an important role in a variety of cellular processes including growth, motility, differentiation, and metabolism. As such, dysregulation of RTK signaling leads to an assortment of human diseases, most notably, cancers. Recent large-scale genomic studies have revealed the presence of various alterations in the genes encoding RTKs such as EGFR, HER2/ErbB2, and MET, amongst many others. Abnormal RTK activation in human cancers is mediated by four principal mechanisms: gain-of-function mutations, genomic amplification, chromosomal rearrangements, and / or autocrine activation...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455643/chronic-myeloid-leukemia-the-paradigm-of-targeting-oncogenic-tyrosine-kinase-signaling-and-counteracting-resistance-for-successful-cancer-therapy
#15
REVIEW
Simona Soverini, Manuela Mancini, Luana Bavaro, Michele Cavo, Giovanni Martinelli
Deregulated activity of BCR-ABL1, a nonreceptor tyrosine kinase encoded by the fusion gene resulting from the t(9;22)(q34;q11) chromosomal translocation, is thought to be the driver event responsible for initiation and maintenance of chronic myeloid leukemia (CML). BCR-ABL1 was one of the first tyrosine kinases to be implicated in a human malignancy and the first to be successfully targeted. Imatinib mesylate, the first tyrosine kinase inhibitor (TKI) to be approved for therapeutic use, was hailed as a magic bullet against cancer and remains one of the safest and most effective anticancer agents ever developed...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455582/nonvisualization-of-fetal-gallbladder-in-microarray-era-a-retrospective-cohort-study-and-review-of-the-literature
#16
Sagi-Dain Lena, Singer Amihood, Yarin Hadid, Sharony Reuven, Chana Vinkler, Bar-Shira Anat, Reeval Segel, Ben Shachar Shay, Maya Idit
OBJECTIVE: To examine the frequency of abnormal Chromosomal Microarray (CMA) analyses among fetuses with isolated nonvisualization of fetal gallbladder. METHODS: Data from CMA analyses performed due to isolated nonvisualization of fetal gallbladder between January 2013 and September 2016 were retrospectively acquired from a computerized database of the Israeli Ministry of Health. The results were compared to the rate for clinically significant CMA findings in general population, based on a large cohort of 5541 pregnancies undergoing CMA due to maternal request, and a systematic review of 9272 cases with normal ultrasound...
February 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29455549/multiple-endocrine-neoplasia-2a-men-2a-syndrome
#17
J Breza, J Breza
INTRODUCTION: In the MEN 2A syndrome, which is the most common of the three types of MEN, three endocrine systems are affected simultaneously or subsequently by the development of tumours manifested by medullary thyroid gland carcinoma, pheochromocytoma (often bilateral) and hyperparathyroidism. MATERIAL AND METHODS: 27 patients from 3 families affected by MEN 2A syndrome were examined clinically (by detecting the effects of catecholamine overproduction), biochemically (screening for metanephrine and normetanephrine in the serum), visualization (CT, MRI, MIBG, PET CT) and some of them also genetically (DNA fragment analysis obtained by PCR amplification)...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29455351/lead-facilitates-foci-formation-in-a-balb-c-3t3-two-step-cell-transformation-model-role-of-ape1-function
#18
Pablo Hernández-Franco, Martín Silva, Rodrigo Franco, Mahara Valverde, Emilio Rojas
Several possible mechanisms have been examined to gain an understanding on the carcinogenic properties of lead, which include among others, mitogenesis, alteration of gene expression, oxidative damage, and inhibition of DNA repair. The aim of the present study was to explore if low concentrations of lead, relevant for human exposure, interfere with Ape1 function, a base excision repair enzyme, and its role in cell transformation in Balb/c-3T3. Lead acetate 5 and 30 μM induced APE1 mRNA and upregulation of protein expression...
February 17, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29455330/ocular-manifestations-of-pediatric-systemic-diseases
#19
Gopal S Pillai, Natasha Radhakrishnan
Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications for both diagnosis and treatment. Often, the eye findings can give a clue to the systemic diagnosis and at other times, not managing the eye manifestations can lead to irreversible blindness although the systemic condition was treated well...
February 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29455316/investigation-of-major-genetic-alterations-in-neuroblastoma
#20
Régis Afonso Costa, Héctor N Seuánez
Neuroblastoma (NB) is the most common extracranial solid tumor in childhood. This malignancy shows a wide spectrum of clinical outcome and its prognosis is conditioned by manifold biological and genetic factors. We investigated the tumor genetic profile and clinical data of 29 patients with NB by multiplex ligation-dependent probe amplification (MLPA) to assess therapeutic risk. In 18 of these tumors, MYCN status was assessed by fluorescence in situ hybridization (FISH). Copy number variation was also determined for confirming MLPA findings in two 6p loci...
February 17, 2018: Molecular Biology Reports
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