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https://www.readbyqxmd.com/read/28287095/aboriginal-australian-mitochondrial-genome-variation-an-increased-understanding-of-population-antiquity-and-diversity
#1
Nano Nagle, Mannis van Oven, Stephen Wilcox, Sheila van Holst Pellekaan, Chris Tyler-Smith, Yali Xue, Kaye N Ballantyne, Leah Wilcox, Luka Papac, Karen Cooke, Roland A H van Oorschot, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians...
March 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28278700/clinical-histopathological-and-molecular-features-of-mucosa-associated-lymphoid-tissue-malt-lymphoma-carrying-the-t-x-14-p11-q32-gpr34-immunoglobulin-heavy-chain-gene
#2
Takashi Akasaka, Yin-Fai Lee, Anne J Novak, Gen Honjo, Kayo Takeoka, Fumiyo Maekawa, Katsuhiro Fukutsuka, Masahiko Hayashida, Hitoshi Ohno
No abstract text is available yet for this article.
February 28, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28264646/strain-dependent-mutational-effects-for-pepino-mosaic-virus-in-a-natural-host
#3
Julia Minicka, Santiago F Elena, Natasza Borodynko-Filas, Błażej Rubiś, Beata Hasiów-Jaroszewska
BACKGROUND: Pepino mosaic virus (PepMV) is an emerging plant pathogen that infects tomatoes worldwide. Understanding the factors that influence its evolutionary success is essential for developing new control strategies that may be more robust against the evolution of new viral strains. One of these evolutionary factors is the distribution of mutational fitness effect (DMFE), that is, the fraction of mutations that are lethal, deleterious, neutral, and beneficial on a given viral strain and host species...
March 6, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28250917/an-intragenic-deletion-within-ctnna2-intron-7-in-a-boy-with-short-stature-and-speech-delay-a-case-report
#4
Valeria Paganelli, Mara Giordano, Cristina Meazza, Lucia Schena, Mauro Bozzola
BACKGROUND/OBJECTIVES: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. RESULTS: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28222720/birt-hogg-dub%C3%A3-syndrome-a-literature-review-and-case-study-of-a-chinese-woman-presenting-a-novel-flcn-mutation
#5
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking...
February 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28208880/balanced-autosomal-translocations-in-two-women-reporting-recurrent-miscarriage
#6
Brindha Arumugam, Chandra R Samuel, Santhiya Sathiyavedu Thyagarajan
Spontaneous abortion or loss of fetus prior to 20 weeks of gestation is observed in 15-20% of clinically recognized pregnancies. Recurrent Miscarriage (RM) is defined as three or more consecutive pregnancy losses and it affects 1-2% of women. Parental chromosomal rearrangements account for 2-5% of RM. This report describes two couples with a clinical history of RM who were subjected to conventional cytogenetic analysis to ascertain the chromosomal aetiology. Analysis of GTG-banded metaphases obtained from cultured lymphocytes at approximately 500-band resolution revealed balanced translocation in the female spouses as 46,XX,t(8;11)(p11...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28183811/annexin-ii-binding-immunoglobulins-in-patients-with-lupus-nephritis-and-their-correlation-with-disease-manifestations
#7
Kwok Fan Cheung, Susan Yung, Mel Km Chau, Desmond Yh Yap, Kwok Wah Chan, Cheuk Kwong Lee, Colin So Tang, Tak Mao Chan
Annexin II on mesangial cell surface mediates the binding of anti-dsDNA antibodies and consequent downstream inflammatory and fibrotic processes. We investigated the clinical relevance of circulating annexin II-binding immunoglobulins in patients with severe proliferative lupus nephritis, and renal annexin II expression in relation to progression of nephritis in NZBWF1/J mice. Annexin II-binding immunoglobulins in serum were measured by ELISA. Ultrastructural localization of annexin II was determined by electron microscopy...
February 9, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28138694/activity-of-fibroblast-growth-factor-receptor-inhibitors-tki258-ponatinib-and-azd4547-against-tpr%C3%A2-fgfr1-fusion
#8
Xu-Hua Qiu, Feng Li, Hong-Qin Cao, Jing-Jing Shao, Jian-Gang Mei, Han-Qing Li, Yong-Ping Zhai
8p11 myeloproliferative syndrome (EMS) is a rare disease characterized by the constitutive activation of fibroblast growth factor receptor 1 (FGFR1). To date, four cases of EMS with the chromosomal translocation, t(1;8)(q25;p11.2), have been reported. In the present study, TPR‑FGFR1‑expressing Baf3 cells were established and confirmed by polymerase chain reaction. To identify the most promising drug for EMS, the activities and associated mechanism of three tyrosine kinase inhibitors (TKIs), TKI258, ponatinib and AZD4547, against TPR‑FGFR1 were tested by MTT assay, flow cytometry and western blot...
January 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28137881/alterations-of-p11-in-brain-tissue-and-peripheral-blood-leukocytes-in-parkinson-s-disease
#9
Holly Green, Xiaoqun Zhang, Katarina Tiklova, Nikolaos Volakakis, Lovisa Brodin, Louise Berg, Paul Greengard, Thomas Perlmann, Per Svenningsson
Individuals with Parkinson's disease (PD) often suffer from comorbid depression. P11 (S100A10), a member of the S100 family of proteins, is expressed widely throughout the body and is involved in major depressive disorder and antidepressant response. Central p11 levels are reduced in postmortem tissue from depressed individuals; however, p11 has not yet been investigated in PD patients with depression or those without depression. We investigated p11 levels in postmortem PD brains and assessed whether peripheral p11 levels correlate with disease severity...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28134577/primary-intraprostatic-synovial-sarcoma
#10
REVIEW
Andrea M Olofson, Konstantinos Linos
Primary intraprostatic synovial sarcoma is a rare presentation of an otherwise well-studied disease, and it is one of the few primary sarcomas to occur in the prostate. Ancillary diagnostic techniques including immunohistochemistry and molecular genetics are useful to establish a definitive diagnosis. Despite its unorthodox location, it shares histologic and molecular genetic characteristics with tumors found elsewhere in the body. Most notably, the chromosomal translocation t(X;18)(p11;q11) encodes a chimeric transcription-activating protein, SS18-SSX, which has been identified as the primary driver mutation...
February 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28132860/mantle-cell-lymphoma-with-a-novel-t-11-12-q13-p11-2-a-proposed-alternative-mechanism-of-ccnd1-upregulation
#11
Joshua R Menke, George Vasmatzis, Stephen Murphy, Lin Yang, David M Menke, Han W Tun, Rebecca L King, Stephanie A Smoley, Rhett P Ketterling, William R Sukov
Mantle cell lymphoma (MCL) is typically characterized by t(11;14) which places the IGH@ enhancer elements upstream of CCND1. This fusion results in upregulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3' untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11...
January 26, 2017: Human Pathology
https://www.readbyqxmd.com/read/28105725/antifungal-peptides-a-potential-new-class-of-antifungals-for-treating-vulvovaginal-candidiasis-caused-by-fluconazole-resistant-candida-albicans
#12
Siew Mei Samantha Ng, Yi Yong Alvin Yap, Jin Wei Darryl Cheong, Fui Mee Ng, Qiu Ying Lau, Timothy Barkham, Jeanette Woon Pei Teo, Jeffrey Hill, Cheng San Brian Chia
Vulvovaginal candidiasis/candidosis is a common fungal infection afflicting approximately 75% of women globally caused primarily by the yeast Candida albicans. Fluconazole is widely regarded as the antifungal drug of choice since its introduction in 1990 due to its high oral bioavailability, convenient dosing regimen and favourable safety profile. However, its widespread use has led to the emergence of fluconazole-resistant C. albicans, posing a universal clinical concern. Coupled to the dearth of new antifungal drugs entering the market, it is imperative to introduce new drug classes to counter this threat...
March 2017: Journal of Peptide Science: An Official Publication of the European Peptide Society
https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#13
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28097792/fish-identifies-a-kat6a-crebbp-fusion-caused-by-a-cryptic-insertional-t-8-16-in-a-case-of-spontaneously-remitting-congenital-acute-myeloid-leukemia-with-a-normal-karyotype
#14
Rachel Barrett, Barbara Morash, David Roback, Chantale Pambrun, Lesley Marfleet, Rhett P Ketterling, Karen Harrison, Jason N Berman
Cytogenetics can inform risk stratification in pediatric acute myeloid leukemia (AML). We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH). Expectant management resulted in spontaneous leukemia resolution. The identification of t(8;16)(p11.2;p13.3) may serve as a biomarker for spontaneous remission in congenital AML. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28076682/effect-of-maternal-%C3%A2-citalopram-exposure-on-p11-expression-and-neurogenesis-in-the-mouse-fetal-brain
#15
Jennifer R King, Juan C Velasquez, Masaaki Torii, Alexandre Bonnin
Fetal exposure to selective serotonin reuptake inhibitors (SSRI) has been associated with increased risk of adverse neurodevelopmental outcomes. In the adult brain, SSRI therapy regulates p11 (s100a10) expression and alters neurogenesis. The protein p11 indirectly regulates 5-HT signaling through 5-HT1B/D receptors. In the fetal brain, signaling through these receptors modulates axonal circuit formation. We determined whether p11 is expressed in the fetal mouse brain, and whether maternal SSRI exposure affects fetal p11 expression and neurogenesis...
January 13, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#16
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
January 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28064285/unusual-duplication-in-the-pericentromeric-region-of-chromosome-9-in-a-patient-with-phenotypic-alterations
#17
Andréa C M Malinverni, Mileny E Colovati, Ana B A Perez, Thamy P Caneloi, Hélio R Oliveira, Nadezda Kosyakova, Thomas Liehr, Ahmed B Hamid, Maria I Melaragno
Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28052551/remineralization-of-natural-early-caries-lesions-in-vitro-by-p11-4-monitored-with-photothermal-radiometry-and-luminescence
#18
Joshua D Silvertown, Bonny P Y Wong, Koneswaran S Sivagurunathan, Stephen H Abrams, Jennifer Kirkham, Bennett T Amaechi
AIM: The efficacy of self-assembling peptide P11 -4 to regenerate enamel in natural early caries lesions was evaluated over 50 days by photothermal radiometry and luminescence using The Canary System (CS) and The Canary Lab (CL). METHODS: Baseline readings for sound and carious sites on smooth surfaces of extracted teeth were obtained by scanning with CS and CL. Teeth were then randomly assigned to a treatment group (TG, treated with P11 -4), a placebo group (PG, same vehicle as treatment group without P11 -4), or a control group (CG, no treatment)...
January 4, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28049552/antiproliferative-cyclodepsipeptides-from-the-marine-actinomycete-streptomyces-sp-p11-23b-downregulating-the-tumor-metabolic-enzymes-of-glycolysis-glutaminolysis-and-lipogenesis
#19
Xuewei Ye, Komal Anjum, Tengfei Song, Wenling Wang, Ying Liang, Mengxuan Chen, Haocai Huang, Xiao-Yuan Lian, Zhizhen Zhang
Two cyclodepsipeptides and a known cyclodepsipeptide valinomycin were isolated from a culture of the marine actinomycete Streptomyces sp. P11-23B. Their structures were established based on NMR, HRESIMS, and MS-MS spectroscopic interpretation as well as by chemical degradation. Both streptodepsipeptides P11A and P11B inhibited proliferation of different glioma cell lines, with IC50 values ranging from 0.1 μM to 1.4 μM. Streptodepsipeptide P11A was found to block the cell cycle at the G0/G1 phase and induce apoptosis in glioma cells...
March 2017: Phytochemistry
https://www.readbyqxmd.com/read/28040133/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p11-22%C3%A2-q11-21-in-an-18-year-old-female-with-short-stature-obesity-attention-deficit-hyperactivity-disorder-and-intellectual-disability
#20
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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