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Sofía I Deperi, Martín E Tagliotti, M Cecilia Bedogni, Norma C Manrique-Carpintero, Joseph Coombs, Ruofang Zhang, David Douches, Marcelo A Huarte
The reported narrow genetic base of cultivated potato (Solanum tuberosum) can be expanded by the introgression of many related species with large genetic diversity. The analysis of the genetic structure of a potato population is important to broaden the genetic base of breeding programs by the identification of different genetic pools. A panel composed by 231 diverse genotypes was characterized using single nucleotide polymorphism (SNP) markers of the Illumina Infinium Potato SNP Array V2 to identify population structure and assess genetic diversity using discriminant analysis of principal components (DAPC) and pedigree analysis...
2018: PloS One
Xiang Jiao, Wen Liu, Hovsep Mahdessian, Patrick Bryant, Jenny Ringdahl, Maria Timofeeva, Susan M Farrington, Malcolm Dunlop, Annika Lindblom
Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear. In order to discover low-frequency, high-risk CRC susceptibility variants in Swedish population, we genotyped 1 515 CRC patients enriched for familial cases, and 12 108 controls. Case/control association analysis suggested eight novel variants associated with CRC risk (OR 2.0-17.6, p-value < 2.0E-07), comprised of seven coding variants in genes RAB11FIP5, POTEA, COL27A1, MUC5B, PSMA8, MYH7B, and PABPC1L as well as one variant downstream of NEU1 gene...
2018: PloS One
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
Omid Daneshjoo, Masoud Garshasbi
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. CASE PRESENTATION: In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing...
March 15, 2018: Journal of Medical Case Reports
Wei Hu, Xian Shi, Hongwen Li, Luzhu Chen, Tingmei Wang, Yingying Dong, Yanhong Zhang, Man Hu, Xiaoli Liu, Caie Zhang, Dongxian Liu, Yunhua Deng
BACKGROUND: Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face. AIMS: To provide new evidence for further study of the etiopathogenisis of DSH. METHODS: Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1...
March 12, 2018: Indian Journal of Dermatology, Venereology and Leprology
Ruben Jauregui, Galaxy Y Cho, Vitor K L Takahashi, Julia T Takiuti, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
Inherited retinal diseases (IRDs) are a major cause of incurable familial blindness in the Western world. In the pediatric population, IRDs are a major contributor to the 19 million children worldwide with visual impairment. Unfortunately, the road to the correct diagnosis is often complicated in the pediatric population, as typical diagnostic tools such as fundus examination, electrodiagnostic studies, and other imaging modalities may be difficult to perform in the pediatric patient. In this review, we describe the most significant IRDs with onset during the pediatric years (ie, before the age of 18)...
March 14, 2018: Asia-Pacific Journal of Ophthalmology
Daniela A Braun, Jillian K Warejko, Shazia Ashraf, Weizhen Tan, Ankana Daga, Ronen Schneider, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Makiko Nakayama, David Schapiro, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Sevcan A Bakkaloglu, Jameela A Kari, Sherif El Desoky, Ghaleb Daouk, Shrikant Mane, Richard P Lifton, Shirlee Shril, Friedhelm Hildebrandt
Background: Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-α5, an essential component of the glomerular basement membrane. Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria...
March 9, 2018: Nephrology, Dialysis, Transplantation
Yi Jiang, Song Gao, Lihua Wu, Xiaohua Jin, Tao Deng, Ligang Wang, Shasha Huang, Xue Gao, Juan Chen, Dongyi Han, Huafang Gao, Pu Dai
To analyze the spectrum and founder effect of TMC1 mutations in patients with non-syndromic deafness in the Xiamen area. Sporadic pedigrees were detected by targeted next-generation sequencing, and 110 unrelated patients from Xiamen Special Education School were analyzed through Sanger sequencing for the TMC1 gene. In total, 53 SNPs were designed to analyze the haplotypes of the TMC1 c.2050G>C mutation. The probands of three families were found to be homozygous for TMC1 c.2050G>C, and their parents were all heterozygous for the TMC1 c...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Dechao Xu, Yiyi Ma, Xiangchen Gu, Rongrong Bian, Yunhui Lu, Xiaohong Xing, Changlin Mei
BACKGROUND/AIMS: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder with mutations in PKD1 or PKD2. This study aimed to identify novel PKD1 and PKD2 mutations in Chinese patients with ADPKD. METHODS: Mutational analyses of both PKD genes were performed in 120 Chinese families with inherited ADPKD using long-range PCR and targeted next-generation sequencing approaches. Sanger sequencing was performed to check the positive mutations, while multiplex ligation-dependent probe amplification was adopted to examine those without mutations for the presence of large deletions...
March 6, 2018: Kidney & Blood Pressure Research
M Q Chan, A E Blum, A K Chandar, A M L Kieber Emmons, Y Shindo, W Brock, G W Falk, M I Canto, J S Wang, P G Iyer, N J Shaheen, W M Grady, J A Abrams, P N Thota, K K Guda, A Chak
Barrett's esophagus (BE) is the only known precursor to esophageal adenocarcinoma (EAC). Based on striking aggregation of breast cancer and BE/EAC within families as well as shared risk factors and molecular mechanisms of carcinogenesis, we hypothesized that BE may be associated with breast cancer. Pedigree analysis of families identified prospectively at multiple academic centers as part of the Familial Barrett's Esophagus Consortium (FBEC) was reviewed and families with aggregation of BE/EAC and breast cancer are reported...
March 7, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
Sirimanas Jiaranuchart, Atsushi Kaida, Yusuke Onozato, Hiroyuki Harada, Masahiko Miura
OBJECTIVE: The objective of this study was to characterize the DNA damage response in two human oral cancer cell lines following X-irradiation. DESIGN: To visualize radiation-induced cell cycle alterations, two human oral cancer cell lines, HSC3 and HSC4, expressing fluorescent ubiquitination-based cell cycle indicator (Fucci) were established in this study. G2 arrest kinetics following irradiation were obtained from two-color flow cytometric analysis and pedigrees of Fucci fluorescence...
March 6, 2018: Archives of Oral Biology
Subha Ramani, Karen D Könings, Karen V Mann, Emily E Pisarski, Cees P M van der Vleuten
PURPOSE: To explore resident and faculty perspectives on what constitutes feedback culture, their perceptions of how institutional feedback culture (including politeness concepts) might influence the quality and impact of feedback, feedback seeking, receptivity, and readiness to engage in bidirectional feedback. METHOD: Using a constructivist grounded theory approach, five focus group discussions with internal medicine residents, three focus group discussions with general medicine faculty, and eight individual interviews with subspecialist faculty were conducted at Brigham and Women's Hospital between April and December 2016...
March 6, 2018: Academic Medicine: Journal of the Association of American Medical Colleges
Thomas Sinkjær
No abstract text is available yet for this article.
March 8, 2018: Nature
Jeffrey B Endelman, Cari A Schmitz Carley, Paul C Bethke, Joseph J Coombs, Mark E Clough, Washington L da Silva, Walter S De Jong, David S Douches, Curtis M Frederick, Kathleen G Haynes, David G Holm, J Creighton Miller, Patricio R Muñoz, Felix M Navarro, Richard G Novy, Jiwan P Palta, Gregory A Porter, Kyle T Rak, Vidyasagar R Sathuvalli, Asunta L Thompson, G Craig Yencho
As one of the world's most important food crops, potato ( Solanum tuberosum L.) has spurred innovation in autotetraploid genetics, including the use of SNP arrays to determine allele dosage at thousands of markers. By combining genotype and pedigree information with phenotype data for economically important traits, the objectives of this study were to (1) partition the genetic variance into additive vs. non-additive components, and (2) determine the accuracy of genome-wide prediction. Between 2012 and 2017, a training population of 571 clones was evaluated for total yield, specific gravity, and chip fry color...
March 7, 2018: Genetics
Rajeev K Varshney, Mahendar Thudi, Manish K Pandey, Francois Tardieu, Chris Ojiewo, Vincent Vadez, Anthony M Whitbread, Kadambot H M Siddique, Henry T Nguyen, Peter S Carberry, David Bergvinson
Grain legumes form an important component of the human diet, feed for livestock and replenish soil fertility through biological nitrogen fixation. Globally, the demand for food legumes is increasing as they complement cereals in protein requirements and possess a high percentage of digestible protein. Climate change has enhanced the frequency and intensity of drought stress that is posing serious production constraints, especially in rainfed regions where most legumes are produced. Genetic improvement of legumes, like other crops, is mostly based on pedigree and performance-based selection over the last half century...
March 5, 2018: Journal of Experimental Botany
Shao-Kang Mo, Zi-Lin Ren, Ya-Ran Yang, Ya-Cheng Liu, Jing-Jing Zhang, Hui-Juan Wu, Zhen Li, Xiao-Chen Bo, Sheng-Qi Wang, Jiang-Wei Yan, Ming Ni
Kinship testing based on genetic markers, as forensic short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs), has valuable practical applications. Paternity and first-degree relationship can be accurately identified by current commonly-used forensic STRs and reported SNP markers. However, second-degree and more distant relationships remain challenging. Although ∼105 -106 SNPs can be used to estimate relatedness of higher degrees, genome-wide genotyping and analysis may be impractical for forensic use...
March 2, 2018: Forensic Science International. Genetics
Francois Laurens, Maria José Aranzana, Pere Arus, Daniele Bassi, Marco Bink, Joan Bonany, Andrea Caprera, Luca Corelli-Grappadelli, Evelyne Costes, Charles-Eric Durel, Jehan-Baptiste Mauroux, Hélène Muranty, Nelson Nazzicari, Thierry Pascal, Andrea Patocchi, Andreas Peil, Bénédicte Quilot-Turion, Laura Rossini, Alessandra Stella, Michela Troggio, Riccardo Velasco, Eric van de Weg
Despite the availability of whole genome sequences of apple and peach, there has been a considerable gap between genomics and breeding. To bridge the gap, the European Union funded the FruitBreedomics project (March 2011 to August 2015) involving 28 research institutes and private companies. Three complementary approaches were pursued: (i) tool and software development, (ii) deciphering genetic control of main horticultural traits taking into account allelic diversity and (iii) developing plant materials, tools and methodologies for breeders...
2018: Horticulture Research
Sarah A Taylor, Susan Kelly, Estella M Alonso, Peter F Whitington
OBJECTIVES: To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort. STUDY DESIGN: We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes. RESULTS: The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD...
February 27, 2018: Journal of Pediatrics
Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, Phillipa J Lamont, Mark R Davis, Fiore Manganelli, Shawna M Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlova, Radim Mazanec, Feifei Tao, Cima Saghira, Lisa Abreu, Steve Courel, Eric Powell, Elena Buglo, Dana M Bis, Megan F Baxter, Royston W Ong, Lorna Marns, Yi-Chung Lee, Yunhong Bai, Daniel G Isom, René Barro-Soria, Ki W Chung, Steven S Scherer, H Peter Larsson, Nigel G Laing, Byung-Ok Choi, Pavel Seeman, Michael E Shy, Lucio Santoro, Stephan Zuchner
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way-by combining data from seven countries on four continents-we were able to define mutations in ATP1A1, which encodes the alpha1 subunit of the Na+ ,K+ -ATPase, as a cause of autosomal-dominant CMT2. Seven missense changes were identified that segregated within individual pedigrees: c...
March 1, 2018: American Journal of Human Genetics
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