Zobrazeno 1 - 10
of 27
pro vyhledávání: '"35"'
Autor:
Ankit Chhoda, Anup Sharma, Bethsebie Sailo, Haoyu Tang, Nensi Ruzgar, Wan Ying Tan, Lee Ying, Rishabh Khatri, Anand Narayanan, Shrikant Mane, Bony De Kumar, Laura D. Wood, Christine Iacobuzio-Donahue, Christopher L. Wolfgang, John W. Kunstman, Ronald R. Salem, James J. Farrell, Nita Ahuja
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-8 (2023)
Abstract Background Intraductal papillary mucinous neoplasms (IPMNs), a type of cystic pancreatic cancer (PC) precursors, are increasingly identified on cross-sectional imaging and present a significant diagnostic challenge. While surgical resection
Externí odkaz:
https://doaj.org/article/546ba8af962b49deaa4afd35f88e5578
Autor:
David Z. Pan, Zong Miao, Caroline Comenho, Sandhya Rajkumar, Amogha Koka, Seung Hyuk T. Lee, Marcus Alvarez, Dorota Kaminska, Arthur Ko, Janet S. Sinsheimer, Karen L. Mohlke, Nicholas Mancuso, Linda Liliana Muñoz-Hernandez, Miguel Herrera-Hernandez, Maria Teresa Tusié-Luna, Carlos Aguilar-Salinas, Kirsi H. Pietiläinen, Jussi Pihlajamäki, Markku Laakso, Kristina M. Garske, Päivi Pajukanta
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-20 (2021)
Abstract Background Obesity predisposes individuals to multiple cardiometabolic disorders, including type 2 diabetes (T2D). As body mass index (BMI) cannot reliably differentiate fat from lean mass, the metabolically detrimental abdominal obesity has
Externí odkaz:
https://doaj.org/article/a78b7b24f81c435489080bb179d2de77
Autor:
Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi
Externí odkaz:
https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7
Autor:
Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
Abstract Background Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-e
Externí odkaz:
https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-16 (2024)
Abstract DNA methylation (DNAm) changes play a key role in regulating gene expression in asthma. To investigate the role of epigenetics and transcriptomics change in asthma, we used publicly available DNAm (asthmatics, n = 96 and controls, n = 46) an
Externí odkaz:
https://doaj.org/article/749323d58a9e4d0099e17d298d5c2df8
Autor:
Karlijn A. C. Meeks, Amy R. Bentley, Themistocles L. Assimes, Nora Franceschini, Adebowale A. Adeyemo, Charles N. Rotimi, Ayo P. Doumatey
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)
Abstract Background In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progression of type 2 diabetes (T2D). However, studies on their role in T2D in humans are scarce. We evaluated asso
Externí odkaz:
https://doaj.org/article/17086dc964274999bdc3791b8a9b648d
Autor:
Elina Sillanpää, Miina Ollikainen, Jaakko Kaprio, Xiaoling Wang, Tuija Leskinen, Urho M. Kujala, Timo Törmäkangas
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Abstract Background Epigenetic clocks may increase our understanding on human aging and how genetic and environmental factors regulate an individual aging process. One of the most promising clocks is Horvath’s DNA methylation (DNAm) age. Age accele
Externí odkaz:
https://doaj.org/article/6d3265979089404d8e98d10b72fae5f4
Autor:
Drew R. Nannini, Rene Cortese, Peter Egwom, Senthilnathan Palaniyandi, Gerhard C. Hildebrandt
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-8 (2023)
Abstract Chronic lymphocytic leukemia (CLL) is a mature B cell neoplasm with a predilection for older individuals. While previous studies have identified epigenetic signatures associated with CLL, whether age-related DNA methylation changes modulate
Externí odkaz:
https://doaj.org/article/13f798d1cf85400a900e08a789e82a78
Autor:
Jiayu Liang, Guangxi Sun, Xiuyi Pan, Mengni Zhang, Pengfei Shen, Sha Zhu, Jinge Zhao, Linmao Zheng, Junjie Zhao, Yuntian Chen, Xiaoxue Yin, Junru Chen, Xu Hu, Yuhao Zeng, Jianhui Chen, Yongquan Wang, Zhihong Liu, Jin Yao, Minggang Su, Rui Huang, Banghua Liao, Qiang Wei, Xiang Li, Qiao Zhou, Jiyan Liu, Yali Shen, Zhenhua Liu, Ni Chen, Hao Zeng, Xingming Zhang
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Abstract Background Fumarate hydratase–deficient renal cell carcinoma (FH-RCC) is a rare highly aggressive subtype of kidney cancer for which the distinct genomic, transcriptomic, and evolutionary relationships between metastatic and primary lesion
Externí odkaz:
https://doaj.org/article/6c8795d0b02740948debb30b7bd00337
Autor:
Yuye Shi, Li-Juan Zhang, Shan-Dong Tao, Yue Chen, Chunling Wang, Zhengmei He, Kan-Kan Chen, Wenting Shi, Liang Yu
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Molecular Cytogenetics
Molecular Cytogenetics
Background Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions. Methods Cytogenetics is an ind