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Y Chromosom

T Jiang, J Chen, X Huang, Y Li, L Zhong
Philadelphia chromosome positive (Ph+) acute lymphoblastic leukemia (ALL) is the most fatal leukemia due to the BCR/ABL fusion protein. This fusion protein could induce the interleukin 6 (IL-6) expression in leukemia stem cells (LSCs), which sustain the stemness by binding IL-6R and activating Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway. IL-6R was one of the targets of miR-451a, which was downregulated in LSCs by BCR/ABL. We aimed to investigate the relationship between miR-451a, IL-6R, and BCR/ABL in Ph+ ALL and create a strategy to treat this disease...
September 4, 2018: Neoplasma
H Y Yang, C P Huang, M M Cao, Y F Wang, Y Liu
As a new kind of factors in regulating biological processes human cancers, long noncoding RNAs (lncRNAs) are attracting more and more attention from researchers. The lncRNA Colorectal Neoplasia Differentially Expressed (CRNDE) is transcribed from chromosome 16 on the opposite strand to the neighboring IRX5 gene. It was originally discovered to be abnormally expressed in CRC and was certified to be critical biomarker in many cancers. However, its biological function and mechanism underlying the tumorigenesis of cervical cancer are still waiting for further exploration...
September 4, 2018: Neoplasma
Hyun-Chul Park, Eun-Jung Lee, Youn-Hyung Nam, Nam-Soo Cho, Si-Keun Lim, Won Kim
Y chromosome short tandem repeats (Y-STRs) are commonly used to analyze male-specific DNA. Although biallelic patterns due to duplication events have been detected at some loci, Y-STRs generally appear as a single peak except for DYS385 because the Y chromosome is haploid. STR loci in regions of segmental duplication by homologous recombination on the Y chromosome exhibit double allelic peaks, rather than single peaks. In this study, we report a bi- and triallelic pattern observed simultaneously in DYS390, DYS518, and DYS643...
October 17, 2018: International Journal of Legal Medicine
Anis Feki, Youssef Hibaoui
Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer's disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A ( DYRK1A ) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions...
October 16, 2018: Brain Sciences
Jader de Oliveira, Kaio Cesar Chaboli Alevi, Amanda Ravazi, Heitor Miraglia Herrera, Filipe Martins Santos, Maria Tercília Vilela de Azeredo-Oliveira, João Aristeu da Rosa
The genus Psammolestes within the subfamily Triatominae and tribe Rhodniini comprises the species Psammolestes arthuri , Psammolestes coreodes , and Psammolestes tertius , all potential vectors of Chagas disease. A feature of Psammolestes is their close association with birds, which makes them an interesting model for evolutionary studies. We analyzed cytogenetically Psammolestes spp., with the aim of contributing to the genetic and evolutionary knowledge of these vectors. All species of the Psammolestes showed the same chromosomal characteristics: chromocenter formed only by sex chromosomes X and Y, karyotype 2 n = 22 and constitutive heterochromatin, and AT base pairs restricted to the sex chromosome Y...
October 15, 2018: American Journal of Tropical Medicine and Hygiene
Renato Robledo, Giuseppe Vona, Emanuele Sanna, Valeria Bachis, Carla Maria Calò
BACKGROUND: From the genetic viewpoint, Sardinia is well differentiated from other surrounding populations. In spite of a common ancestral origin, substantial genetic heterogeneity is observed within the island. Matrimonial pattern, as well as past migration movements, may account for the complex genetic structure of Sardinia. AIM: To compare data from uniparental markers in order to highlight the migration pattern of male and female lineages and check their congruence with the demographic data...
June 2018: Annals of Human Biology
Marta Diepenbroek, Sandra Cytacka, Maria Szargut, Joanna Arciszewska, Grażyna Zielińska, Andrzej Ossowski
In Poland, during the World War II, almost 3 million people were killed during the Nazi occupation, and about 570,000 during the Soviet occupation. Furthermore, historians have estimated that after the World War II at least 30,000 people were killed during the Stalinist regime in Poland (1944-1956). The exact number is unknown, because both executions and burials were kept secret. Thousands of people just vanished. As a response to those events, forensic scientists from the Pomeranian Medical University in Szczecin in cooperation with historians from the Institute of National Remembrance started the project of the Polish Genetic Database of Victims of Totalitarianism, which aim is to identify victims killed in the years 1939-1956...
October 16, 2018: International Journal of Legal Medicine
Godwin C Ajaezi, Max Eisele, Fabio Contu, Sadhana Lal, Aline Rangel-Pozzo, Sabine Mai, Kathleen M Gough
Recent super-resolution fluorescence microscopy (3D-Structured Illumination Microscopy, 3D-SIM) studies have revealed significantly altered nuclear organization between normal lymphocyte nuclei and those of classical Hodgkin's Lymphoma. Similar changes have been found in Multiple Myeloma (MM) nuclei, as well as in a premalignant condition, Monoclonal Gammopathy of Unknown Significance (MGUS). Using 3D-SIM, an increase in DNA-poor and DNA-free voids was evident in reconstructed 3D-SIM images of diseased nuclei at 40 nm pixel resolution (x,y: 40 nm, z: 80 nm)...
October 17, 2018: Analyst
X Q Ji, C H Zhu, H Y Song
Objective: To understand the healthy status of radiation workers on the staff in Nanjing, and to analysis the relationship between abnormal crystalline lens and its influencing factors. Methods: We described physical indicators including blood pressure (BP) 、blood sugar (BG) 、thyroid B ultrasound、crystalline lens、chromosome and so on among 3 349 radiation workers on the staff in the year 2016 from Jan 1 to Dec 31, and the abnormal results of crystalline lens were analyzed statistically. Results: The rate of abnormal BP、BG、WBC、Thyroid B ultrasound、crystalline lens was 19...
August 20, 2018: Chinese Journal of Industrial Hygiene and Occupational Diseases
H Sun, Y Q Liu
No abstract text is available yet for this article.
October 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Mark Y Jeng, Maxwell R Mumbach, Jeffrey M Granja, Ansuman T Satpathy, Howard Y Chang, Anne Lynn S Chang
The vast majority of polymorphisms for human dermatologic diseases fall in non-coding DNA regions, leading to difficulty interpreting their functional significance. Recent work utilizing chromosome conformation capture (3C) technology in combination with chromatin immunoprecipitation (ChIP) has provided a systematic means of linking non-coding variants within active enhancer loci to putative gene targets. Here, we apply H3K27ac HiChIP high-resolution contact maps, generated from primary human T-cell subsets (CD4+ Naïve, TH 17, and Treg ), to 21 dermatologic conditions associated with single nucleotide polymorphisms (SNPs) from 106 genome-wide association studies (GWAS)...
October 10, 2018: Journal of Investigative Dermatology
Celina Montemayor-Garcia, Panagiota Karagianni, David A Stiles, Erika M Reese, Danielle A Smellie, Debrean A Loy, Kimberly Y Levy, Magdalene Nwokocha, Marina U Bueno, Jeffery L Miller, Harvey G Klein
BACKGROUND: The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations. This database can enrich our background knowledge of worldwide blood group variant geographic distribution and identify novel variants of potential clinical significance. STUDY DESIGN AND METHODS: The 1000 Genomes database was analyzed to 1) expand knowledge about continental distributions of known blood group variants, 2) identify novel variants with antigenic potential and their geographic association, and 3) establish a baseline scaffold of chromosomal coordinates to translate next-generation sequencing output files into a predicted red blood cell (RBC) phenotype...
October 12, 2018: Transfusion
Pilar Marí, Joaquim Casellas
The freemartinism syndrome affects almost all female calves born co-twin to males, whereas little is known about sheep females. Within this context, a total of 1,185 ewe-lambs from the Ripollesa sheep breed where genotyped for the oY1 polymorphism (non-autosomal region of the Y chromosome). Neither ewe-lambs from single birth (856) nor ewe-lambs from all-female multiple births (170) revealed as freemartin, whereas five out of 159 ewe lambs from multiple births with male co-twins were freemartin (3.15%±1.38%); all those freemartin ewes were confirmed by physical examination of external genitalia...
October 8, 2018: Journal of Veterinary Science
Adam Ameur, Huiwen Che, Marcel Martin, Ignas Bunikis, Johan Dahlberg, Ida Höijer, Susana Häggqvist, Francesco Vezzi, Jessica Nordlund, Pall Olason, Lars Feuk, Ulf Gyllensten
The current human reference sequence (GRCh38) is a foundation for large-scale sequencing projects. However, recent studies have suggested that GRCh38 may be incomplete and give a suboptimal representation of specific population groups. Here, we performed a de novo assembly of two Swedish genomes that revealed over 10 Mb of sequences absent from the human GRCh38 reference in each individual. Around 6 Mb of these novel sequences (NS) are shared with a Chinese personal genome. The NS are highly repetitive, have an elevated GC-content, and are primarily located in centromeric or telomeric regions...
October 9, 2018: Genes
Ying-Bei Chen, Leili Mirsadraei, Gowtham Jayakumaran, Hikmat A Al-Ahmadie, Samson W Fine, Anuradha Gopalan, S Joseph Sirintrapun, Satish K Tickoo, Victor E Reuter
The differential diagnosis of renal cell neoplasms with solid or nested architecture and eosinophilic cytoplasm has become increasingly complex. Despite recent advances in classifying a number of entities exhibiting this morphology, some tumors remain in the unclassified category. Here we describe a morphologically distinct group of sporadic renal cell carcinoma (RCC) with predominantly nested architecture, eosinophilic, and remarkably vacuolated cytoplasm retrospectively identified from a cohort of previously unclassified tumors...
October 9, 2018: American Journal of Surgical Pathology
Hong Dai, Junchao Feng, Huahui Bian, Weibo Chen, Youyou Wang, Yulong Liu, Wentao Hu
To establish a complete technical solution for the automatic radiation biological dose estimation platform for biological dose estimation and classification of the wounded in large-scale radiation accidents, the "dose-effect curve by dicentric chromosome (DIC) automatic analysis" was established and its accuracy was verified. The effects of analyzed cell number and the special treatment of the culture on dose estimation by DIC automatic analysis were studied. Besides, sample processing capabilities of the special equipments were tested...
October 2018: Dose-response: a Publication of International Hormesis Society
Korunya Saenguthai, Sirinart Chomean, Chollanot Kaset
Investigation of sexual assault cases from the evidence involving vaginal swab, clothing and others is examined by a forensic scientist. The explanation of trace findings on spermatozoa on clothing is often problematic due to the use of different staining methods. Conventional staining method used either Papanicolaou (PAP) or Dip quick® stain as synthetic dyes which are expensive imported material and harmful to human health. Therefore, the present study aims to determine the ability of Oryza sativa L (black rice) extract as a natural dye to detect spermatozoa on the clothing and vaginal swab casework samples for routine forensic examination...
October 2, 2018: Legal Medicine
Sandeep Kumar Dey, Avijeet Kamle, Ram Reddy Dereddi, Shiju M Thomas, Shashi Rekha Thummala, Arvind Kumar, Sumana Chakravarty, Rachel A Jesudasan
The role of Y chromosome in sex determination and male fertility is well established. It is also known that infertile men are prone to psychological disturbances. Earlier studies in the laboratory identified genes expressed in testes that are putatively regulated by Y chromosome in man and mouse. With the availability of a Y-deleted mouse model, that is subfertile, we studied the effect of a partial deletion of Y-chromosomal heterochromatin on mouse behavior when compared to its wild type. The partial Y-deleted mice exhibited anxiety like phenotype under stress when different anxiety (open field test and elevated plus maze, EPM test) and depression related tests (tail suspension and force swim) were performed...
2018: Frontiers in Behavioral Neuroscience
Alexander N Goel, Bhavani S Gowda, Mysore S Veena, Travis L Shiba, Jennifer L Long
OBJECTIVES: Cell therapies using mesenchymal stromal cells (MSCs) have been proposed as a promising new tool for the treatment of vocal fold scarring. However, the mechanisms by which MSCs promote healing as well as their duration of survival within the host vocal fold have yet to be defined. The aim of this work was to assess the persistence of embedded MSCs within a tissue-engineered vocal fold mucosal replacement in a rabbit model of vocal fold injury. METHODS: Male rabbit adipose-derived MSCs were embedded within a 3-dimensional fibrin gel, forming the cell-based outer vocal fold replacement...
October 8, 2018: Annals of Otology, Rhinology, and Laryngology
Nitikorn Poriswanish, Rita Neumann, Jon H Wetton, John Wagstaff, Maarten H D Larmuseau, Mark A Jobling, Celia A May
The human X and Y chromosomes are heteromorphic but share a region of homology at the tips of their short arms, pseudoautosomal region 1 (PAR1), that supports obligate crossover in male meiosis. Although the boundary between pseudoautosomal and sex-specific DNA has traditionally been regarded as conserved among primates, it was recently discovered that the boundary position varies among human males, due to a translocation of ~110 kb from the X to the Y chromosome that creates an extended PAR1 (ePAR). This event has occurred at least twice in human evolution...
October 8, 2018: PLoS Genetics
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