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https://www.readbyqxmd.com/read/28445867/the-mir-106a-363xpcl1-mirna-cluster-induces-murine-t-cell-lymphoma-despite-transcriptional-activation-of-the-p27kip1-cell-cycle-inhibitor
#1
Daniel A Kuppers, Thomas M Schmitt, Harry C Hwang, Lavanya Samraj, Bruce E Clurman, Matthew L Fero
The miR-106a~363 cluster encodes 6 miRNAs on the X-chromosome which are abundant in blood cells and overexpressed in a variety of malignancies. The constituent miRNA of miR-106a~363 have functional activities in vitro that are predicted to be both oncogenic and tumor suppressive, yet little is known about their physiological functions in vivo. Mature miR-106a~363 (Mirc2) miRNAs are processed from an intragenic, non-protein encoding gene referred to as Xpcl1 (or Kis2), situated at an X-chromosomal locus frequently targeted by retroviruses in murine lymphomas...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445652/identification-of-quantitative-trait-loci-underlying-seed-protein-content-of-soybean-including-main-epistatic-and-qtl-%C3%A3-environment-effects-in-different-regions-of-northeast-china
#2
Weili Teng, Wen Li, Q I Zhang, Depeng Wu, Xue Zhao, Haiyan Li, Yingpeng Han, Wenbin Li
The objective here was to identify QTL, their epistatic effects and QTLs x environments interaction underlying soybean protein content (PC). The mapping population, consisted of 129 recombinant inbred lines (RILs), was created by crossing 'Dongnong46' and 'L-100'. Phenotypic data of the parents and RILs were collected for four years in three locations of Heilongjiang Province of China. A total of 213 simple sequence repeat markers were used to construct a genetic linkage map. Eight QTLs, located on seven chromosomes (Chr), were identified to be associated with PC among the ten tested environments...
April 26, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28444561/a-rare-variant-in-the-fhl1-gene-associated-with-x-linked-recessive-hypoparathyroidism
#3
Nir Pillar, Oren Pleniceanu, Mingyan Fang, Limor Ziv, Einat Lahav, Shay Botchan, Le Cheng, Benjamin Dekel, Noam Shomron
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism. Mutations in CASR, GCM2, and PTH were ruled out, while whole exome sequencing of the family suggested FHL1, located on chromosome Xq26, as the most likely causative gene variant (FHL1, exon 4, c...
April 25, 2017: Human Genetics
https://www.readbyqxmd.com/read/28444223/gene-organizer-linking-genes-to-the-organs-they-affect
#4
David Gokhman, Guy Kelman, Adir Amartely, Guy Gershon, Shira Tsur, Liran Carmel
One of the biggest challenges in studying how genes work is understanding their effect on the physiology and anatomy of the body. Existing tools try to address this using indirect features, such as expression levels and biochemical pathways. Here, we present Gene ORGANizer (geneorganizer.huji.ac.il), a phenotype-based tool that directly links human genes to the body parts they affect. It is built upon an exhaustive curated database that links >7000 genes to ∼150 anatomical parts using >150 000 gene-organ associations...
April 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28443134/characterization-of-x-chromosome-gene-expression-in-bovine-blastocysts-derived-by-in-vitro-fertilization-and-somatic-cell-nuclear-transfer
#5
Byungkuk Min, Jung Sun Park, Kyuheum Jeon, Yong-Kook Kang
To better understand X-chromosome reactivation (XCR) during early development, we analyzed transcriptomic data obtained from bovine male and female blastocysts derived by in-vitro fertilization (IVF) or somatic-cell nuclear transfer (SCNT). We found that X-linked genes were upregulated by almost two-fold in female compared with male IVF blastocysts. The upregulation of X-linked genes in female IVFs indicated a transcriptional dimorphism between the sexes, because the mean autosomal gene expression levels were relatively constant, regardless of sex...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28441829/-primary-ciliary-dyskinesia-with-hydin-gene-mutations-in-a-child-and-literature-review
#6
L L Chen, Y G Yang, J Z Wu, X R Chen
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. Result: An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. Examinations after admission to hospital showed that he presented with visible clubbing, bilateral paranasal sinus area tenderness, pharynx posterior wall with visible yellow pussy stuff drip and bilateral lung had scattered wet rales...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#7
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437559/chromosomal-evolution-in-large-pelagic-oceanic-apex-predators-the-barracudas-sphyraenidae-percomorpha
#8
R X Soares, M B Cioffi, L A C Bertollo, A T Borges, G W W F Costa, W F Molina
Sphyraena (barracudas) represents the only genus of the Sphyraenidae family and includes 27 species distributed into the tropical and subtropical oceanic regions. These pelagic predators can reach large sizes and, thus, attracting significant interest from commercial and sport fishing. Evolutionary data for this fish group, as well its chromosomal patterns, are very incipient. In the present study, the species Sphyraena guachancho, S. barracuda, and S. picudilla were analyzed under conventional (Giemsa staining, C-banding, and Ag-NOR) and molecular (CMA3 banding, and in situ hybridization with 18S rDNA, 5S rDNA, and telomeric probes) cytogenetic methods...
April 20, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#9
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28431398/decreased-calpain-activity-in-chronic-myeloid-leukemia-impairs-apoptosis-by-increasing-survivin-in-myeloid-progenitors-and-xiap1-in-differentiating-granulocytes
#10
Weiqi Huang, Ling Bei, Elizabeth E Hjort, Elizabeth A Eklund
Chronic Myeloid Leukemia (CML) is characterized by translocations between chromosomes 9 and 22, resulting in expression of Bcr-abl oncogenes. Although the clinical course of CML was revolutionized by development of Bcr-abl-directed tyrosine kinase inhibitors (TKIs), CML is not cured by these agents. Specifically, the majority of subjects relapsed in clinical trials attempting TKI discontinuation, suggesting persistence of leukemia stem cells (LSCs) even in molecular remission. Identifying mechanisms of CML-LSC persistence may suggest rationale therapeutic targets to augment TKI efficacy and lead to cure...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431021/patterns-of-genome-wide-diversity-and-population-structure-in-the-drosophila-athabasca-species-complex
#11
Karen M Wong Miller, Ryan R Bracewell, Michael B Eisen, Doris Bachtrog
The Drosophila athabasca species complex contains three recently diverged, prezygotically isolated semispecies (Western-Northern, Eastern-A, and Eastern-B) that are distributed across North America and share zones of sympatry. Inferences based on a handful of loci suggest that this complex might be an ideal system for studying the genetics of incipient speciation and the evolution of prezygotic isolating mechanisms, but patterns of differentiation have not been characterized systematically. Here, we assembled a draft genome for D...
April 14, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28430968/sex-chromosome-dependent-differential-viability-of-human-spermatozoa-during-prolonged-incubation
#12
Young-Ah You, Woo-Sung Kwon, Md Saidur Rahman, Yoo-Jin Park, Young-Ju Kim, Myung-Geol Pang
STUDY QUESTION: Are there significant differences in the ability of X chromosome-bearing (X) spermatozoa and Y chromosome-bearing (Y) spermatozoa to survive incubation under stressful conditions? SUMMARY ANSWER: Y spermatozoa are more vulnerable to stress than their X counterparts depending on culture period and temperature, and show higher expression of apoptotic proteins. WHAT IS KNOWN ALREADY: The primary sex ratio is determined by there being an equal number of spermatozoa carrying X and Y chromosomes...
April 19, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28427134/-role-of-bone-marrow-tyrosine-kinase-on-chromosome-x-in-the-production-of-pro-inflammatory-cytokines-from-mouse-mononuclear-macrophages-raw264-7-induced-by-endotoxin-lipopolysaccharide-and-its-mechanism
#13
X Fang, Y Hu, Y Wang, S Liu, F Wang, X L Chen
Objective: To investigate the role of bone marrow tyrosine kinase on chromosome X (BMX) in the production of tumor necrosis factor α (TNF-α) and interleukin-1β (IL-1β) from mouse mononuclear-macrophages induced by endotoxin/lipopolysaccharide (LPS) and its related mechanism. Methods: Mouse mononuclear-macrophages RAW264.7 were inoculated in 6-well plates and routinely cultured for the following experiments. (1) Cells were collected and divided into blank control group, LPS control group, and 75, 750, 7 500, 75 000 nmol/L BMX-IN-1 pretreatment groups according to the random number table, with 8 wells in each group...
April 20, 2017: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/28422154/integration-of-liver-gene-co-expression-networks-and-egwas-analyses-highlighted-candidate-regulators-implicated-in-lipid-metabolism-in-pigs
#14
Maria Ballester, Yuliaxis Ramayo-Caldas, Manuel Revilla, Jordi Corominas, Anna Castelló, Jordi Estellé, Ana I Fernández, Josep M Folch
In the present study, liver co-expression networks and expression Genome Wide Association Study (eGWAS) were performed to identify DNA variants and molecular pathways implicated in the functional regulatory mechanisms of meat quality traits in pigs. With this purpose, the liver mRNA expression of 44 candidates genes related with lipid metabolism was analysed in 111 Iberian x Landrace backcross animals. The eGWAS identified 92 eSNPs located in seven chromosomal regions and associated with eight genes: CROT, CYP2U1, DGAT1, EGF, FABP1, FABP5, PLA2G12A, and PPARA...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421323/gene-expression-nucleotide-composition-and-codon-usage-bias-of-genes-associated-with-human-y-chromosome
#15
Monisha Nath Choudhury, Arif Uddin, Supriyo Chakraborty
Analysis of codon usage pattern is important to understand the genetic and evolutionary characteristics of genomes. We have used bioinformatic approaches to analyze the codon usage bias (CUB) of the genes located in human Y chromosome. Codon bias index (CBI) indicated that the overall extent of codon usage bias was low. The relative synonymous codon usage (RSCU) analysis suggested that approximately half of the codons out of 59 synonymous codons were most frequently used, and possessed a T or G at the third codon position...
April 18, 2017: Genetica
https://www.readbyqxmd.com/read/28420319/bcor-ccnb3-undifferentiated-sarcoma-does-immunohistochemistry-help-in-the-identification
#16
Kathrin Ludwig, Rita Alaggio, Angelica Zin, Marica Peron, Vincenza Guzzardo, Stefania Benini, Alberto Righi, Marco Gambarotti
Recent methodology has enabled the identification of some new genetic subgroups within the melting pot of lesions presently classified by the 2013 WHO classification as "undifferentiated/unclassified sarcomas". One of these subgroups is characterized by a paracentric inversion of the X chromosome with consequent formation of a BCOR-CCNB3 fusion. Clinical and pathological features of these tumors overlap with the Ewing sarcoma family as well as other soft tissue sarcomas, thus making them difficult to diagnose...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28417259/comparison-between-magnetic-bead-and-qpcr-library-normalisation-methods-for-forensic-mps-genotyping
#17
Bhavik Mehta, Samantha Venables, Paul Roffey
Massively parallel sequencing (MPS) is fast approaching operational use in forensic science, with the capability to analyse hundreds of DNA identity and DNA intelligence markers in multiple samples simultaneously. The ForenSeq™ DNA Signature Kit on MiSeq FGx™ (Illumina) workflow can provide profiles for autosomal short tandem repeats (STRs), X chromosome and Y chromosome STRs, identity single nucleotide polymorphisms (SNPs), biogeographical ancestry SNPs and phenotype (eye and hair colour) SNPs from a sample...
April 18, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#18
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28412872/chinese-xibe-population-genetic-composition-according-to-linkage-groups-of-x-chromosomal-strs-population-genetic-variability-and-interpopulation-comparisons
#19
Hao-Tian Meng, Chun-Mei Shen, Yu-Dang Zhang, Qian Dong, Yu-Xin Guo, Guang Yang, Jiang-Wei Yan, Yao-Shun Liu, Ting Mei, Jian-Feng Shi, Bo-Feng Zhu
BACKGROUND: The Xibe population is one of China's officially recognised populations and is now distributed separately from west to east in the northern part of China. X-chromosomal short tandem repeats have a special inheritance pattern, and could be used as complements in forensic application especially for complex or deficiency cases. SUBJECTS AND METHODS: We obtained the allelic and haplotypic frequencies of 19 X-STR loci in the Xibe population from Xinjiang Uygur Autonomous Region, China, and studied the genetic differentiations between the Xibe and other populations...
April 16, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28409421/the-impact-of-microenvironment-on-the-synovial-sarcoma-transcriptome
#20
Huifeng Jin, Jared J Barrott, Matthew G Cable, Michael J Monument, Daniel M Lerman, Kyllie Smith-Fry, Dakota Nollner, Kevin B Jones
Synovial sarcoma (SS) is initiated by a t(X;18) chromosomal translocation and resultant SS18-SSX fusion oncogene. Only a few SS cell lines exist. None has been compared to its source tumor. In order to compare matched tumor and cell line pairs, we performed RNAseq on 3 tumor/cell line pairs from a genetically engineered mouse model of SS, as well as 2 pairs from human SS tumors. Transcriptomes of mouse tumors and derivative cell lines deviated significantly. Differentially expressed genes highlighted inflammatory infiltrates and metabolism...
April 13, 2017: Cancer Microenvironment: Official Journal of the International Cancer Microenvironment Society
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