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https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#1
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28912966/abcc6-gene-analysis-in-20-japanese-patients-with-angioid-streaks-revealing-four-frequent-and-two-novel-variants-and-pseudodominant-inheritance
#2
Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi
PURPOSE: To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). PATIENTS AND METHODS: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. RESULTS: Eight ABCC6 variants were identified as candidate disease-causing variants...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28885172/status-and-prospects-of-next-generation-sequencing-technologies-in-crop-plants
#3
T R Sharma, B N Devanna, Kanti Kiran, Pankaj K Singh, Kirti Arora, Priyanka Jain, Ila M Tiwari, Himanshu Dubey, Banita Saklani, Mandeep Kumari, Jyoti Singh, Rajdeep Jaswal, Ritu Kapoor, Deepak V Pawar, Shruti Sinha, Deepak Singh Bisht, A U Solanke, T K Mondal
The history of DNA sequencing dates back to 1970s. During this period the two first generation nucleotide sequencing techniques were developed. Subsequently the Sanger's dideoxy method of sequencing gained popularity over Maxam and Gilbert's chemical method of sequencing. However, in the last decade, we have observed revolutionary changes in DNA sequencing technologies leading to the emergence of next-generation sequencing (NGS) techniques. NGS technologies have enhanced the throughput and speed of sequencing combined with bringing down the overall cost of the process over a time...
September 8, 2017: Current Issues in Molecular Biology
https://www.readbyqxmd.com/read/28865061/severe-enteropathy-and-hypogammaglobulinemia-complicating-refractory-mycobacterium-tuberculosis-complex-disseminated-disease-in-a-child-with-il-12r%C3%AE-1-deficiency
#4
Andrés Augusto Arias, Carlos M Perez-Velez, Julio César Orrego, Marcela Moncada-Velez, Jessica Lineth Rojas, Alejandra Wilches, Andrea Restrepo, Mónica Trujillo, Carlos Garcés, Catalina Arango-Ferreira, Natalia González, Carmen Oleaga-Quintas, Diana Fernández, Johana Marcela Isaza-Correa, Diego Eduardo Gongóra, Daniel Gonzalez-Loaiza, Juan Esteban Sierra, Jean Laurent Casanova, Jacinta Bustamante, José Luis Franco
PURPOSE: Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by poorly virulent mycobacteria. Other infections such as salmonellosis and candidiasis are also reported. The purpose of this article is to describe a young boy affected with various infectious diseases caused by Mycobacterium tuberculosis complex, Salmonella sp, Klebsiella pneumonie, Citrobacter sp., and Candida sp, complicated with severe enteropathy and transient hypogammaglobulinemia...
September 1, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#5
Maria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, Ilham Ratbi, Karima Amjoud, Jill E Urquhart, James O'Sullivan, William G Newman, Abdelaziz Sefiani
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis...
August 21, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28807047/adverse-outcomes-associated-with-opioid-prescription-for-acute-low-back-pain-a-systematic-review-protocol
#6
Natalia Mouravska, Laura Zielinski, Meha Bhatt, Nitika Sanger, Monica Bawor, Brittany Dennis, Laura Banfield, James MacKillop, James Paul, Andrew Worster, Philip Laplante, Lehana Thabane, Zainab Samaan
BACKGROUND: Acute low back pain (ALBP) is the top cause of global disability, demonstrating a significant impact on individuals and society and demanding the need for appropriate management. There is a trend towards an increasing number of opioid prescriptions for ALBP despite the lack of investigation for its various short- and long-term outcomes. The objective of this review is to examine adverse outcomes associated with opioid use for ALBP. METHODS/DESIGN: Using a search strategy, the search will be conducted using the following electronic databases: PubMed/MEDLINE, EMBASE, PsycINFO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Science, Cochrane Library, the National Institutes for Health Clinical Trials Registry and the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP)...
August 14, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28780987/clinical-and-histologic%C3%A2-findings-in-acta1-related-nemaline-myopathy-case-series-and-review-of-the-literature
#7
REVIEW
Cristiane de Araújo Martins Moreno, Osório Abath Neto, Sandra Donkervoort, Ying Hu, Umbertina Conti Reed, Acary Sousa Bulle Oliveira, Carsten Bönnemann, Edmar Zanoteli
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. Nemaline myopathy is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent genetic cause of nemaline myopathy and can lead to a variety of clinical and histologic phenotypes...
April 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28771233/impact-of-germline-and-somatic-brca1-2-mutations-tumor-spectrum-and-detection-platforms
#8
REVIEW
H Wu, X Wu, Z Liang
The BRCA1/2 genes are long and complex and mutation carriers are at risk of developing malignancies, mainly of gynecological origin. Various mutations arise in these genes and their characterization is a time consuming, cost intensive, complicated process. Tumors of BRCA1/2 origin have distinct molecular and histological features that can impact responses to therapy. Therefore, detection of these mutations constitutes an important step in the risk assessment, prevention strategy and treatment of subjects. Although Sanger sequencing is the gold standard for the detection of genetic mutations, several next generation sequencing-based high throughput platforms have been developed and adapted for the detection of BRCA1/2 mutations...
August 3, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28759525/ultrasound-and-pet-ct-correlation-in-shoulder-pathology-a-5-year-retrospective-analysis
#9
Christopher J Burke, William R Walter, Ronald S Adler, James S Babb, Joseph Sanger, Fabio Ponzo
PURPOSE: To correlate shoulder ultrasound and radiography with F-FDG PET-CT to establish FDG uptake and therefore range of metabolic activity, as defined by SUV analysis, in various symptomatic shoulder pathologies. METHODS: Retrospective database query was performed for shoulder ultrasound and PET-CT scans between January 2012 and January 2017. Patients who had both studies within 1 year were included. Age- and sex-matched control patients with PET-CT scans only were also included...
October 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28748388/pls3-sequencing-in-childhood-onset-primary-osteoporosis-identifies-two-novel-disease-causing-variants
#10
A J Kämpe, A Costantini, R E Mäkitie, N Jäntti, H Valta, M Mäyränpää, H Kröger, M Pekkinen, F Taylan, H Jiao, O Mäkitie
Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. INTRODUCTION: The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features...
July 26, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#11
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28699202/ductal-adenocarcinoma-of-the-prostate-clinical-and-biological-profiles
#12
MULTICENTER STUDY
Armelle Vinceneux, Franck Bruyère, Olivier Haillot, Thomas Charles, Alexandre de la Taille, Laurent Salomon, Yves Allory, Idir Ouzaid, Laurence Choudat, Morgan Rouprêt, Eva Comperat, Nadine Houede, Jean-Baptiste Beauval, Patrick Vourc'h, Gaëlle Fromont
BACKGROUND: Ductal adenocarcinoma (DAC) is a rare and aggressive subtype of prostate cancer (PCa). In the present study, we analyzed the clinical and biological characteristics of DAC, in comparison with high grade conventional acinar PCa. METHODS: Samples and data were retrospectively collected from seven institutions and centrally reviewed. Immunohistochemistry was performed on tissue microarrays to assess the expression of candidate proteins, based on the molecular classification of PCa, including ERG, PTEN, and SPINK1...
September 2017: Prostate
https://www.readbyqxmd.com/read/28694206/identification-of-two-novel-sh3pxd2b-gene-mutations-in-frank-ter-haar-syndrome-by-exome-sequencing-case-report-and-review-of-the-literature
#13
Abdelali Zrhidri, Imane Cherkaoui Jaouad, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said E L Mouatassim, Abdelaziz Sefiani
BACKGROUND: Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. The most common underlying genetic defect in Frank-Ter Haar syndrome appears to be due to mutations in the SH3PXD2B gene on chromosome 5q35.1. Until now, only six mutations in SH3PXD2B gene have been identified. A genetic heterogeneity of FTHS was suggested in previous studies...
July 7, 2017: Gene
https://www.readbyqxmd.com/read/28652772/epidermal-growth-factor-receptor-exon-20-mutation-in-lung-cancer-types-incidence-clinical-features-and-impact-on-treatment
#14
Vanita Noronha, Anuradha Choughule, Vijay M Patil, Amit Joshi, Rajiv Kumar, Deepa Susan Joy Philip, Shripad Banavali, Amit Dutt, Kumar Prabhash
BACKGROUND: There are limited data available on the treatment and outcome of epidermal growth factor receptor (EGFR) exon 20-mutated lung cancer patients. Hence, we planned an analysis of the demographic details, clinical profile and survival of lung cancer patients with exon 20 mutations. We compared our results to patients with EGFR tyrosine kinase inhibitor (TKI)-sensitizing activating and EGFR/anaplastic lymphoma kinase (ALK)-negative mutations. METHODS: This was a retrospective analysis of lung cancer patients who were treated at our center between January 2010 and August 2014...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#15
Ahmet Okay Çağlayan, Rabia Gonul Sezer, Hande Kaymakçalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilgüvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and as a high-throughput discovery tool for identifying novel disease-causing genes. We describe a male infant with primary dilated cardiomyopathy who was diagnosed using intrauterine echocardiography and found to progress to hypertrophic cardiomyopathy after birth...
September 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28623566/clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-patients-in-chinese-families
#16
Chen Chen, Yue Zhang, Hui Wu, Yi-Min Sun, Ye-Hua Cai, Jian-Jun Wu, Jian Wang, Ling-Yun Gong, Zheng-Tong Ding
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c...
June 17, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28618409/identification-of-8-novel-mutations-in-nephrogenesis-related-genes-in-chinese-han-patients-with-unilateral-renal-agenesis
#17
Hangdi Wu, Qian Xu, Jingyuan Xie, Jun Ma, Panpan Qiao, Wen Zhang, Haijin Yu, Weiming Wang, Ying Qian, Qianying Zhang, Yiqing Guo, Yonghua Tang, Xiao-Nong Chen, Zhaohui Wang, Nan Chen
BACKGROUND: Few genetic studies have focused on unilateral renal agenesis (URA), which is a disorder with insidious clinical manifestations and a tendency to result in renal failure. We aimed to detect pathogenic mutations in nephrogenesis-related genes, which were identified by a literature review conducted among a large cohort of Chinese Han patients with URA. METHODS: Totally, 86 unrelated URA patients were included. All URA patients were diagnosed by employing radiological methods...
2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28604951/-analysis-of-foxl2-gene-mutations-in-5-families-affected-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
#18
Xiaowen Yang, Wen Li, Juan Du, Shimin Yuan, Wenbin He, Qianjun Zhang, Changgao Zhong, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28595730/recurrent-large-genomic-rearrangements-in-brca1-and-brca2-in-an-irish-case-series
#19
Terri P McVeigh, Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green
Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Comprehensive mutation testing using these two methods has been facilitated via our centre since 2005...
August 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28587904/evaluation-of-a-novel-line-probe-assay-to-detect-resistance-to-pyrazinamide-a-key-drug-used-for-tuberculosis-treatment
#20
M Driesen, Y Kondo, B C de Jong, G Torrea, S Asnong, C Desmaretz, K S M Mostofa, S Tahseen, M G Whitfield, D M Cirillo, P Miotto, A M Cabibbe, L Rigouts
OBJECTIVES: The development of rapid molecular diagnostic assays for pyrazinamide (PZA) resistance is considered technically challenging as mutations are highly diverse, scattered along the full length of the pncA gene and not all are associated with PZA resistance. We evaluated the performance of the novel Genoscholar PZA-TB II line probe assay (PZA-LPA2; NIPRO Corporation, Japan). METHODS: To evaluate the applicability of the PZA-LPA2 in clinical settings, we compared the performance of the PZA-LPA2 to a composite reference standard pncA Sanger and Illumina sequencing plus phenotypic susceptibility testing on a panel of 87 Mycobacterium tuberculosis isolates from World Health Organization (WHO) drug resistance surveys, harbouring mutations previously classified as associated or not associated with resistance according to data from peer-reviewed literature...
June 3, 2017: Clinical Microbiology and Infection
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