Results 71 to 80 of about 54,945 (293)

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy

Open Medicine
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-inherited neuromuscular diseases. The genetic diagnosis has been used as the diagnostic choice for DMD/BMD.
Ge Liping, Yang Yang, Yang Yanfei, Chen Yanfei, Tao Na, Zhang Liping, Zhao Canmiao, Zhang Xing   +7 more
doaj   +1 more source

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Insertion/Deletion (InDel) Variants within the Sheep Fat-Deposition-Related PDGFD Gene Strongly Affect Morphological Traits

Animals, 2023
Platelet-derived growth factor D (PDGFD) is a member of the PDGF gene family, and it plays an important role in the regulation of adipocyte development in mammals.
Yunyun Luo, Mengyang Zhang, Zhengang Guo, Dwi Wijayanti, Hongwei Xu, Fugui Jiang, Xianyong Lan   +6 more
doaj   +1 more source

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms [PDF]

, 2004
We describe a genetic variation map for the chicken genome containing 2.8 million single-nucleotide polymorphisms ( SNPs). This map is based on a comparison of the sequences of three domestic chicken breeds ( a broiler, a layer and a Chinese silkie) with
Aerts, Andrea, Andersson, Björn, Andersson, Leif, Bartley, Neil, Boardman, Paul E, Bovenhuis, Henk, Brandström, Mikael, Bumstead, Nat, Burt, David W, Chen, Chen, Chen, Jie, Cheng, Hans H, Consortium, International Chicken Polymorphism Map, Crooijmans, Richard P M A, Dai, Mingtao, de Koning, Dirk-Jan, Dong, Le, Dong, Wei, Ellegren, Hans, Glavina, Tijana, Gordon, Laurie, Groenen, Martien A M, Gunnarsson, Ulrika, Hao, Bailin, He, Dandan, He, Ximiao, Hillier, Ladeana W, Hocking, Paul M, Hu, Songnian, Huang, Xiangang, Huang, Yanqing, Hubbard, Simon J, Hunt, Henry, Kaiser, Pete, Kaufman, Jim, Kindlund, Ellen, Lamont, Susan J, Lan, Fengdi, Law, Andy, Li, Dawei, Li, Guangyuan, Li, Guoqing, Li, Heng, Li, Jun, Li, Ning, Li, Ruiqiang, Li, Shengting, Li, Songgang, Li, Wenjie, Li, Yuanzhe, Lin, Wei, Liu, Bin, Lucas, Susan, Meng, Qingshun, Morrice, David, Ni, Peixiang, Ovcharenko, Ivan, Overton, Ian M, Ponting, Chris, Qi, Qiuhui, Ran, Longhua, Rogers, Sally, Rothwell, Lisa, Ruan, Jue, Shi, Jianping, Stubbs, Lisa, Sun, Yongqiao, Tammi, Martti T, Tang, Haizhou, Tong, Wei, van der Poel, Jan J, van Hateren, Andy, Wahlberg, Per, Walker, Brian A, Wang, Jian, Wang, Jianjun, Wang, Jing, Wang, Jun, Wang, Miaoheng, Wang, Pei, Wang, Xiaoling, Warren, Wesley C, Webber, Caleb, Wei, Dong Qing, Wei, Ning, Wilson, Richard K, Wilson, Stuart A, Wong, Gane Ka-Shu, Xi, Yan, Xie, Fei, Yang, Huanming, Yang, Ning, Yang, Shiaw-Pyng, Yang, Xu, Yang, Zheng, Ye, Chen, Ye, Jia, Young, John R, Yu, Jun, Yu, Yingpu, Zeng, Changqing, Zhang, Jianguo, Zhang, Jingjing, Zhang, Xiaowei, Zhang, Yunze, Zhang, Zengjin, Zhang, Zhenpeng, Zhang, Zhi-Yong, Zhao, Wenming, Zhao, Yiqiang, Zheng, Hongkun, Zheng, Weimou, Zhou, Huaijun, Zhou, Jun, Zhou, Yan   +114 more
core   +3 more sources

Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA

Molecular Oncology, EarlyView.
Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson, Anders Lade Nielsen, Boe Sandahl Sorensen   +2 more
wiley   +1 more source

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes

Frontiers in Genetics
ObjectiveTo screen for possible pathogenic mutations in polycystic ovary syndrome (PCOS) patients with diabetes and preliminarily explore the relationship between genotype and phenotype to offer a research basis for PCOS pathogenesis with diabetes ...
Chenglin Wang
doaj   +1 more source

Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast

Biomolecules, 2023
The yeast petite mutant was first discovered in the yeast Saccharomyces cerevisiae, which shows growth stress due to defects in genes encoding the respiratory chain. In a previous study, we described that deletion of the nuclear-encoded gene MRPL25 leads
Xinyu Tu, Fan Wang, Gianni Liti, Michael Breitenbach, Jia-Xing Yue, Jing Li   +5 more
doaj   +1 more source

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

Molecular Oncology, EarlyView.
Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad, Marie Austdal, Oddmund Nordgård, Gunnar Mellgren, Satu Oltedal, Marie L. Austbø, Ylva H. Vignes, Thomas Helland, Kristin Jonsdottir, Tone H. Lende, Emilius A. M. Janssen, Bjørnar Gilje, Kjersti Tjensvoll, PBCB study group, Gunnar Mellgren, Tone Hoel Lende, Anette Heie, Kristin Viste, Anita Røyneberg Alvheim, Emiel AM Janssen, Kristin Jonsdottir, Ann Cathrine Kroksveen, Thomas Helland, Einar Gudlaugsson, Oddmund Nordgård, Satu Oltedal, Kristin Løge Aanestad, Jan Terje Kvaløy, Kirsten Lode, Kari Britt Hagen, Marie Austdal, Ylva H. Vignes, Siri Tungland Sola, Nina Egeland Amundsen, Finn Magnus Eliassen, Emeritus Ernst A Lien   +35 more
wiley   +1 more source

Performance of genetic programming optimised Bowtie2 on genome comparison and analytic testing (GCAT) benchmarks. [PDF]

, 2015
Genetic studies are increasingly based on short noisy next generation scanners. Typically complete DNA sequences are assembled by matching short NextGen sequences against reference genomes.
Langdon, WB
core   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source