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https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#1
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29325533/a-systematic-review-of-comparisons-between-protocols-or-registrations-and-full-reports-in-primary-biomedical-research
#2
Guowei Li, Luciana P F Abbade, Ikunna Nwosu, Yanling Jin, Alvin Leenus, Muhammad Maaz, Mei Wang, Meha Bhatt, Laura Zielinski, Nitika Sanger, Bianca Bantoto, Candice Luo, Ieta Shams, Hamnah Shahid, Yaping Chang, Guangwen Sun, Lawrence Mbuagbaw, Zainab Samaan, Mitchell A H Levine, Jonathan D Adachi, Lehana Thabane
BACKGROUND: Prospective study protocols and registrations can play a significant role in reducing incomplete or selective reporting of primary biomedical research, because they are pre-specified blueprints which are available for the evaluation of, and comparison with, full reports. However, inconsistencies between protocols or registrations and full reports have been frequently documented. In this systematic review, which forms part of our series on the state of reporting of primary biomedical, we aimed to survey the existing evidence of inconsistencies between protocols or registrations (i...
January 11, 2018: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/29320424/a-retrospective-examination-of-feline-leukemia-subgroup-characterization-viral-interference-assays-to-deep-sequencing
#3
REVIEW
Elliott S Chiu, Edward A Hoover, Sue VandeWoude
Feline leukemia virus (FeLV) was the first feline retrovirus discovered, and is associated with multiple fatal disease syndromes in cats, including lymphoma. The original research conducted on FeLV employed classical virological techniques. As methods have evolved to allow FeLV genetic characterization, investigators have continued to unravel the molecular pathology associated with this fascinating agent. In this review, we discuss how FeLV classification, transmission, and disease-inducing potential have been defined sequentially by viral interference assays, Sanger sequencing, PCR, and next-generation sequencing...
January 10, 2018: Viruses
https://www.readbyqxmd.com/read/29305015/alternative-splicing-in-genetic-diseases-improved-diagnosis-and-novel-treatment-options
#4
Atze J Bergsma, Erik van der Wal, Mike Broeders, Ans T van der Ploeg, W W M Pim Pijnappel
Alternative splicing is an important mechanism to regulate gene expression and to expand the repertoire of gene products in order to accommodate an increase in complexity of multicellular organisms. It needs to be precisely regulated, which is achieved via RNA structure, splicing factors, transcriptional regulation, and chromatin. Changes in any of these factors can lead to disease. These may include the core spliceosome, splicing enhancer/repressor sequences and their interacting proteins, the speed of transcription by RNA polymerase II, and histone modifications...
2018: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/29304903/locked-nucleic-acid-technology-for-highly-sensitive-detection-of-somatic-mutations-in-cancer
#5
Takayuki Ishige, Sakae Itoga, Kazuyuki Matsushita
The molecular diagnosis of the cancer mutational status is essential for modern clinical laboratory medicine. Mutations in EGFR, KRAS, BRAF, and PIK3CA genes are widely analyzed in solid tumors such as lung cancer, colorectal cancer, breast cancer, and melanoma. The allele-specific polymerase chain reaction, high-resolution melting, and Sanger sequencing are used for detecting and identifying gene mutations in many clinical laboratories. The locked nucleic acid (LNA) is a class of nucleic acid analogs that contain a methylene bridge connecting the 2' oxygen and 4' carbon in the ribose moiety...
2018: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/29287585/a-scoping-review-of-comparisons-between-abstracts-and-full-reports-in-primary-biomedical-research
#6
Guowei Li, Luciana P F Abbade, Ikunna Nwosu, Yanling Jin, Alvin Leenus, Muhammad Maaz, Mei Wang, Meha Bhatt, Laura Zielinski, Nitika Sanger, Bianca Bantoto, Candice Luo, Ieta Shams, Hamnah Shahid, Yaping Chang, Guangwen Sun, Lawrence Mbuagbaw, Zainab Samaan, Mitchell A H Levine, Jonathan D Adachi, Lehana Thabane
BACKGROUND: Evidence shows that research abstracts are commonly inconsistent with their corresponding full reports, and may mislead readers. In this scoping review, which is part of our series on the state of reporting of primary biomedical research, we summarized the evidence from systematic reviews and surveys, to investigate the current state of inconsistent abstract reporting, and to evaluate factors associated with improved reporting by comparing abstracts and their full reports...
December 29, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/29283420/genome-sequencing-and-assembly-by-long-reads-in-plants
#7
REVIEW
Changsheng Li, Feng Lin, Dong An, Wenqin Wang, Ruidong Huang
Plant genomes generated by Sanger and Next Generation Sequencing (NGS) have provided insight into species diversity and evolution. However, Sanger sequencing is limited in its applications due to high cost, labor intensity, and low throughput, while NGS reads are too short to resolve abundant repeats and polyploidy, leading to incomplete or ambiguous assemblies. The advent and improvement of long-read sequencing by Third Generation Sequencing (TGS) methods such as PacBio and Nanopore have shown promise in producing high-quality assemblies for complex genomes...
December 28, 2017: Genes
https://www.readbyqxmd.com/read/29282038/the-prognostic-value-of-tp53-mutations-in-hypopharyngeal-squamous-cell-carcinoma
#8
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba
BACKGROUND: TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC). However, the relationship between TP53 mutations and hypopharyngeal squamous cell carcinoma (HPSCC) is not known. The current study aimed to evaluate TP53 mutation status as a predictive biomarker in patients with HPSCC. METHODS: We retrospectively reviewed the clinical charts of 57 HPSCC patients treated with initial surgery between 2008 and 2014...
December 28, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29224747/next-generation-sequencing-identifies-three-novel-missense-variants-in-ildr1-and-myo6-genes-in-an-iranian-family-with-hearing-loss-with-review-of-the-literature
#9
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Masoomeh Sayahi
OBJECTIVES: Hearing impairment is the most common sensorineural disorder and is genetically heterogeneous. Identification of the pathogenic mutations underlying hearing impairment is difficult, since causative mutations in 127 different genes have so far been reported. METHODS: In this study, we performed Next-generation sequencing (NGS) in 2 individuals from a consanguineous family with hearing loss. RESULTS: Three novel mutations in known deafness genes were identified in the family; MYO6-p...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29224278/-clinicopathologic-and-molecular-genetic-characterizations-of-biphenotypic-sinonasal-sarcoma
#10
M Zhao, Q Y LaoI, D H Zhao, J Ma, G Q Ru, X L He, Z Wang, J Wang
Objective: To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS). Methods: Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature. Results: There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients...
December 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29221448/next-generation-sequencing-recent-applications-to-the-analysis-of-colorectal-cancer
#11
REVIEW
Filippo Del Vecchio, Valentina Mastroiaco, Antinisca Di Marco, Chiara Compagnoni, Daria Capece, Francesca Zazzeroni, Carlo Capalbo, Edoardo Alesse, Alessandra Tessitore
Since the establishment of the Sanger sequencing method, scientists around the world focused their efforts to progress in the field to produce the utmost technology. The introduction of next-generation sequencing (NGS) represents a revolutionary step and promises to lead to massive improvements in our understanding on the role of nucleic acids functions. Cancer research began to use this innovative and highly performing method, and interesting results started to appear in colorectal cancer (CRC) analysis. Several studies produced high-quality data in terms of mutation discovery, especially about actionable or less frequently mutated genes, epigenetics, transcriptomics...
December 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29214630/a-del-phenotype-attributed-to-rhd-exon-9-sequence-deletion-slipped-strand-mispairing-and-blood-group-polymorphisms
#12
Genghis H Lopez, Robyn M Turner, Eunike C McGowan, Elizna M Schoeman, Stacy A Scott, Helen O'Brien, Glenda M Millard, Eileen V Roulis, Amanda J Allen, Yew-Wah Liew, Robert L Flower, Catherine A Hyland
BACKGROUND: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29196973/a-novel-homozygous-mutation-in-sptbn2-leads-to-spinocerebellar-ataxia-in-a-consanguineous-family-report-of-a-new-infantile-onset-case-and-brief-review-of-the-literature
#13
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya
The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family. Using genome-wide SNP screening, autozygosity mapping, targeted Sanger sequencing and nextgen sequencing, family segregation analysis, and comprehensive neuropanel, we discovered a novel mutation in SPTBN2. Next, we utilized multiple sequence alignment of amino acids from various species as well as crystal structures provided by protein data bank (PDB# 1WYQ and 1WJM) to model the mutation site and its effect on β-III-spectrin...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29178640/expanding-the-mutational-spectrum-in-johanson-blizzard-syndrome-identification-of-whole-exon-deletions-and-duplications-in-the-ubr1-gene-by-multiplex-ligation-dependent-probe-amplification-analysis
#14
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker
BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#15
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29127628/immunohistochemistry-with-anti-braf-v600e-ve1-mouse-monoclonal-antibody-is-a-sensitive-method-for-detection-of-the-braf-v600e-mutation-in-colon-cancer-evaluation-of-120-cases-with-and-without-kras-mutation-and-literature-review
#16
Katerina Dvorak, Amanda Higgins, John Palting, Michael Cohen, Patrick Brunhoeber
The major aim of this study was to evaluate the performance of anti-BRAF V600E (VE1) antibody in colorectal tumors with and without KRAS mutation. KRAS and BRAF are two major oncogenic drivers of colorectal cancer (CRC) that have been frequently described as mutually exclusive, thus the BRAF V600E mutation is not expected to be present in the cases with KRAS mutation. In addition, a review of 25 studies comparing immunohistochemistry (IHC) using the anti-BRAF V600E (VE1) antibody with BRAF V600E molecular testing in 4041 patient samples was included...
November 10, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29111456/viruses-associated-with-antarctic-wildlife-from-serology-based-detection-to-identification-of-genomes-using-high-throughput-sequencing
#17
REVIEW
Zoe E Smeele, David G Ainley, Arvind Varsani
The Antarctic, sub-Antarctic islands and surrounding sea-ice provide a unique environment for the existence of organisms. Nonetheless, birds and seals of a variety of species inhabit them, particularly during their breeding seasons. Early research on Antarctic wildlife health, using serology-based assays, showed exposure to viruses in the families Birnaviridae, Flaviviridae, Herpesviridae, Orthomyxoviridae and Paramyxoviridae circulating in seals (Phocidae), penguins (Spheniscidae), petrels (Procellariidae) and skuas (Stercorariidae)...
October 27, 2017: Virus Research
https://www.readbyqxmd.com/read/29097605/pura-syndrome-clinical-delineation-and-genotype-phenotype-study-in-32-individuals-with-review-of-published-literature
#18
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The Ddd Study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs...
November 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29062375/a-report-of-a-novel-mutation-in-human-prostacyclin-receptor-gene-in-patients-affected-with-migraine
#19
Majid Kheirollahi, Mohammad Reza Pourreza, Fariborz Khorvash, Mohammad Kazemi, Gilda Amini
Objective: The human prostacyclin receptor gene encodes the human prostacyclin receptor, which is a part of the vasodilator system, during migraine attacks and almost certainly plays an important role in the mechanism of this disease. Method: The present study aimed at determining any variants in PTGIR gene by means of PCR and direct sequencing. Blood samples were taken from the patients, and genomic DNA was extracted. Polymerase chain reaction was performed on the extracted DNA. The PCR products were then sequenced using the Sanger method...
July 2017: Iranian Journal of Psychiatry
https://www.readbyqxmd.com/read/29058949/lipomas-of-the-brachial-plexus-a-case-series-and-review-of-the-literature
#20
Alexander Graf, Kai Yang, David King, William Dzwierzynski, James Sanger, Patrick Hettinger
BACKGROUND: Lipomas are common benign tumors. When they develop in proximity to peripheral nerves, they can cause neurologic symptoms secondary to mass effect. Previous reports have shown symptom resolution after removal of lipomas compressing various upper extremity peripheral nerves. However, brachial plexus lipomas are relatively rare. Our multidisciplinary experience with brachial plexus lipoma resection is reviewed in the largest case series to date. METHODS: A retrospective chart review of all patients undergoing resection of brachial plexus lipomatous tumors between 2006 and 2016 was performed...
October 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
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