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https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#1
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27907098/identification-of-qtl-for-fiber-quality-and-yield-traits-using-two-immortalized-backcross-populations-in-upland-cotton
#2
Hantao Wang, Cong Huang, Wenxia Zhao, Baosheng Dai, Chao Shen, Beibei Zhang, Dingguo Li, Zhongxu Lin
Two immortalized backcross populations (DHBCF1s and JMBCF1s) were developed using a recombinant inbred line (RIL) population crossed with the two parents DH962 and Jimian5 (as the males), respectively. The fiber quality and yield component traits of the two backcross populations were phenotyped at four environments (two locations, two years). One hundred seventy-eight quantitative trait loci (QTL) were detected including 76 for fiber qualities and 102 for yield components, explaining 4.08-17.79% of the phenotypic variation (PV)...
2016: PloS One
https://www.readbyqxmd.com/read/27900368/whole-exome-sequencing-reveals-an-inherited-r566x-mutation-of-the-epithelial-sodium-channel-%C3%AE-subunit-in-a-case-of-early-onset-phenotype-of-liddle-syndrome
#3
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Megan Grove, Sanjay Shete, Stephanie Wallace, Dianna Milewicz, Neil Hanchard, James R Lupski, Syed Shahrukh Hashmi, Monesha Gupta-Malhotra
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27894291/hpv-prevalence-in-the-dutch-cervical-cancer-screening-population-dusc-study-hpv-testing-using-automated-hc2-cobas-and-aptima-workflows
#4
Cornelis Johannes Jacobus Huijsmans, Willemina Rosalia Rita Geurts-Giele, Cindy Leeijen, Hendrikus Lambertus Cornelius Maria Hazenberg, Jenneke van Beek, Carola de Wild, Johannes Cornelis van der Linden, Adrianus Johannes Christiaan van den Brule
BACKGROUND: Primary high risk (hr)HPV screening will be introduced in The Netherlands in January 2017. Our aim was to determine the hrHPV prevalence in the Dutch cervical cancer screening population (DuSC study). METHODS: A total of 12,113 residual PreservCyt cervical samples from the Dutch population based cytology screening program were rendered anonymous, randomized and tested for hrHPV using 3 HPV assays on their respective automated platforms: QIAGEN's digene® HC2 HPV DNA Test® (HC2, signal amplification), Roche Cobas® HPV test (DNA amplification) and Hologic Aptima® HPV Test (RNA amplification)...
November 28, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27893418/high-risk-hpv-genotypes-and-p16ink4a-expression-in-a-cohort-of-head-and-neck-squamous-cell-carcinoma-patients-in-singapore
#5
Louise Soo Yee Tan, Petersson Fredrik, Liang Ker, Feng Gang Yu, De Yun Wang, Boon Cher Goh, Kwok Seng Loh, Chwee Ming Lim
Human papillomavirus (HPV), especially HPV16 genotype, is associated with oropharyngeal squamous cell carcinoma (OPSCC). We aim to determine the prevalence and characterize the high-risk (HR)-HPV genotypes in head and neck SCC (HNSCC) in a South-East Asian multi-ethnic society in Singapore and examine its prognostic significance.159 HNSCC archival tissue samples were retrieved and tumour DNA was screened for 18 HR-HPV genotypes using a PCR-based assay (Qiagen, digene HPV genotyping RH test). P16 protein overexpression was identified using immunohistochemistry (IHC)...
November 22, 2016: Oncotarget
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#6
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27859054/alport-syndrome-impact-of-digenic-inheritance-in-patients-management
#7
Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, Giancarlo Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance. Here we present a new series of families with digenic inheritance and we discuss consequences for genetic counseling and risk assessment. Out of 5 families harboring variants in more than one COL4 gene detected by Next Generation Sequencing (NGS), minigene splicing assay allowed us to identify four as true digenic...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27796712/female-x-linked-alport-syndrome-with-somatic-mosaicism
#8
Kana Yokota, Kandai Nozu, Shogo Minamikawa, Tomohiko Yamamura, Keita Nakanishi, Hisashi Kaneda, Riku Hamada, Yoshimi Nozu, Akemi Shono, Takeshi Ninchoji, Naoya Morisada, Shingo Ishimori, Junya Fujimura, Tomoko Horinouchi, Hiroshi Kaito, Koichi Nakanishi, Ichiro Morioka, Mariko Taniguchi-Ikeda, Kazumoto Iijima
BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not clear what determines severity. METHODS: Two females with somatic mosaic mutations in COL4A5 with variant frequencies of 17...
October 31, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27790188/fusarium-head-blight-resistance-qtl-in-the-spring-wheat-cross-kenyon-86ismn-2137
#9
Curt A McCartney, Anita L Brûlé-Babel, George Fedak, Richard A Martin, Brent D McCallum, Jeannie Gilbert, Colin W Hiebert, Curtis J Pozniak
Fusarium head blight (FHB), caused by Fusarium graminearum, is a very important disease of wheat globally. Damage caused by F. graminearum includes reduced grain yield, reduced grain functional quality, and results in the presence of the trichothecene mycotoxin deoxynivalenol in Fusarium-damaged kernels. The development of FHB resistant wheat cultivars is an important component of integrated management. The objective of this study was to identify QTL for FHB resistance in a recombinant inbred line (RIL) population of the spring wheat cross Kenyon/86ISMN 2137...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27783757/evaluation-of-screening-for-chlamydia-trachomatis-among-young-women-in-primary-health-care-services-in-manaus-amazonas-state-brazil
#10
Dária Neves, Meritxell Sabidó, Camila Bôtto-Menezes, Nina Schwartz Benzaken, Lucília Jardim, Cynthia Ferreira, André Leturiondo, Camila Gurgel Dos Santos, Adele Schwartz Benzaken
Screening for Chlamydia trachomatis is not routinely offered to young asymptomatic women in Brazil. This study evaluated the performance, usefulness, and operational suitability of the Digene Hybrid Capture II (HCII) CT-ID DNA-test as an opportunistic screening tool to detect C. trachomatis in the public health system in Manaus, Amazonas State. Women aged 14-25 years who attended primary health care services were interviewed and one cervical specimen was collected during cytological screening. The HCII CT test was evaluated for its ability to detect the presence of C...
October 20, 2016: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/27603904/identification-of-multiple-gene-mutations-accounts-for-a-new-genetic-architecture-of-primary-ovarian-insufficiency
#11
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27557412/update-on-the-college-of-american-pathologists-experience-with-high-risk-human-papillomavirus-proficiency-testing-for-cytology
#12
Mohiedean Ghofrani, Chengquan Zhao, Diane D Davey, Fang Fan, Mujtaba Husain, Alice Laser, Idris T Ocal, Rulong Z Shen, Kelly Goodrich, Rhona J Souers, Barbara A Crothers
CONTEXT: - Since 2008, the College of American Pathologists has provided the human papillomavirus for cytology laboratories (CHPV) proficiency testing program to help laboratories meet the requirements of the Clinical Laboratory Improvement Amendments of 1988. OBJECTIVES: - To provide an update on trends in proficiency testing performance in the College of American Pathologists CHPV program during the 4-year period from 2011 through 2014 and to compare those trends with the preceding first 3 years of the program...
December 2016: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27525530/comprehensive-screening-of-eight-known-causative-genes-in-congenital-hypothyroidism-with-gland-in-situ
#13
A K Nicholas, E G Serra, H Cangul, S Alyaarubi, I Ullah, E Schoenmakers, A Deeb, A M Habeb, M AlMaghamsi, C Peters, N Nathwani, Z Aycan, H Saglam, E Bober, M Dattani, S Shenoy, P G Murray, A Babiker, R Willemsen, A Thankamony, G Lyons, R Irwin, R Padidela, K Tharian, J H Davies, V Puthi, S-M Park, A F Massoud, J W Gregory, A Albanese, E Pease-Gevers, H Martin, K Brugger, E R Maher, K Chatterjee, C A Anderson, N Schoenmakers
CONTEXT: Lower thyroid-stimulating hormone (TSH) screening cut-offs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically-located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyroid-stimulating hormone receptor (TSHR) underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE: To evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD and TSHR) in CH cases with GIS...
August 15, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27502037/targeted-next-generation-sequencing-approach-identifies-eighteen-new-candidate-genes-in-normosmic-hypogonadotropic-hypogonadism-and-kallmann-syndrome
#14
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, Kelsey R Porter, Soo-Hyun Kim, Hyung-Goo Kim, Lynn P Chorich, Megan E Sullivan, Jeong-Hyeon Choi, Richard S Cameron, Lawrence C Layman
The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense)...
December 5, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27498250/a-comparison-of-different-human-papillomavirus-tests-in-preservcyt-versus-surepath-in-a-referral-population-predictors-4
#15
Jack Cuzick, Amar S Ahmad, Janet Austin, Louise Cadman, Linda Ho, George Terry, Michelle Kleeman, Lesley Ashdown-Barr, Deirdre Lyons, Mark Stoler, Anne Szarewski
BACKGROUND: Two transport media, PreservCyt and SurePath, are widely used for cervical cytology screening. There are concerns that they may perform differently for HPV testing. OBJECTIVES: A comparison of the performance of six different HPV tests in SurePath and PreservCyt in a referral population using two samples from each woman. The primary goal was to compare the performance of each test in the two media. Comparisons between assays and viral load comparisons between media were secondary aims...
September 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/27461666/detection-of-human-papilloma-virus-in-patients-with-squamous-cell-carcinoma-of-the-esophagus-planned-for-definitive-chemo-radiotherapy-and-a-study-of-their-clinical-characteristics
#16
P U Prakash Saxena, Donald Jerard Fernandes, Mamidipudi Srinivasa Vidyasagar, Anshul Singh, Krishna Sharan
CONTEXT: To identify the incidence of human papilloma virus (HPV) infection in squamous esophageal cancer. AIMS: To identify high-risk (HR) HPV positivity rates in patients with squamous carcinoma esophagus and to compare their characteristics with HPV negative counterparts. SETTINGS AND DESIGN: A prospective study, in which tumor biopsies of 18 consecutive patients with squamous carcinoma of the esophagus treated with definitive chemo-radiotherapy (CT-RT) were evaluated for the presence of HPV...
April 2016: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/27362340/old-dogs-new-tricks-monogenic-autoinflammatory-disease-unleashed
#17
Monique Stoffels, Daniel L Kastner
Autoinflammatory diseases are inborn disorders of the innate immune system characterized by episodes of systemic inflammation that are mediated largely by myeloid cells. The field of autoinflammatory diseases has been established since 1999, following the identification of the first genes underlying periodic fever syndromes. This review focuses on developments that have transformed the field in the last two years. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever (FMF)...
August 31, 2016: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/27345180/clinical-significance-of-an-hpv-dna-chip-test-with-emphasis-on-hpv-16-and-or-hpv-18-detection-in-korean-gynecological-patients
#18
Min-Kyung Yeo, Ahwon Lee, Soo Young Hur, Jong Sup Park
BACKGROUND: Human papillomavirus (HPV) is a major risk factor for cervical cancer. METHODS: We evaluated the clinical significance of the HPV DNA chip genotyping assay (MyHPV chip, Mygene Co.) compared with the Hybrid Capture 2 (HC2) chemiluminescent nucleic acid hybridization kit (Digene Corp.) in 867 patients. RESULTS: The concordance rate between the MyHPV chip and HC2 was 79.4% (kappa coefficient, κ = 0.55). The sensitivity and specificity of both HPV tests were very similar (approximately 85% and 50%, respectively)...
July 2016: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/27342735/genetic-analysis-and-qtl-detection-on-fiber-traits-using-two-recombinant-inbred-lines-and-their-backcross-populations-in-upland-cotton
#19
Lianguang Shang, Yumei Wang, Xiaocui Wang, Fang Liu, Abdugheni Abduweli, Shihu Cai, Yuhua Li, Lingling Ma, Kunbo Wang, Jinping Hua
Cotton fiber, a raw natural fiber material, is widely used in the textile industry. Understanding the genetic mechanism of fiber traits is helpful for fiber quality improvement. In the present study, the genetic basis of fiber quality traits was explored using two recombinant inbred lines (RILs) and corresponding backcross (BC) populations under multiple environments in Upland cotton based on marker analysis. In backcross populations, no significant correlation was observed between marker heterozygosity and fiber quality performance and it suggested that heterozygosity was not always necessarily advantageous for the high fiber quality...
2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27282841/distal-myopathy-with-coexisting-heterozygous-tia1-and-myh7-variants
#20
Patricio Brand, P James B Dyck, Jie Liu, Sarah Berini, Duygu Selcen, Margherita Milone
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles, minicore-like structures and congophilic inclusions. Her 66-year-old sister has a mild distal myopathy, supraventricular tachycardia and hypertrophic cardiomyopathy...
August 2016: Neuromuscular Disorders: NMD
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