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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Springer Science and Business Media LLC - Tập 11 - Trang 1-6 - 2017
Elina A. M. Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A. Aaltonen, Outi Kilpivaara
Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe), leading to constitutive activation of JAK-STAT signaling pathway. Familial clustering is also observed occasionally, but high-penetrance predisposition genes to PV have remained unidentif...... hiện toàn bộ
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes
Springer Science and Business Media LLC - Tập 10 - Trang 1-9 - 2016
Izabela Domitrz, Michalina Kosiorek, Cezary Żekanowski, Anna Kamińska
Migraine is the most common neurological disorder, affecting approximately 12 % of the adult population worldwide, caused by both environmental and genetic factors. Three causative genes have been identified in familial hemiplegic migraine (FHM) families: CACNA1A, ATP1A2, and SCNA1A. Recently, several mutations in KCNK18 have also been found as causative factors in migraine development. The aim of...... hiện toàn bộ
CER1gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women
Springer Science and Business Media LLC - Tập 7 - Trang 1-8 - 2013
Theodora Koromila, Panagiotis Georgoulias, Zoe Dailiana, Evangelia E Ntzani, Stavroula Samara, Chris Chassanidis, Vassiliki Aleporou-Marinou, Panagoula Kollia
Osteoporosis has a multifactorial pathogenesis characterized by a combination of low bone mass and increased fragility. In our study, we focused on the effects of polymorphisms in CER1 and DKK1 genes, recently reported as important susceptibility genes for osteoporosis, on bone mineral density (BMD) and bone markers in osteoporotic women. Our objective was to evaluate the effect of CER1 and DKK1 v...... hiện toàn bộ
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
Springer Science and Business Media LLC - Tập 14 - Trang 1-7 - 2020
Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu
Joubert syndrome (JS) is a rare genetic disorder, which can be defined by brain stem malformation, cerebellar vermis hypoplasia, and consequent “molar tooth sign” (MTS). JS always shares variety of phenotypes in development defects. With the development of next-generation sequencing, dozens of causative genes have been identified to JS so far. Here, we investigated two male siblings with JS and un...... hiện toàn bộ
Các biến thể mã hóa và không mã hóa trong EBF3 liên quan đến HADDS và tự kỷ đơn giản Dịch bởi AI
Springer Science and Business Media LLC - - 2021
Evin M. Padhi, Tristan J. Hayeck, Cheng Zhang, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Bénech, Kévin Uguen, Séverine Audebert‐Bellanger, Cédric Le Maréchal, Claude Férec, Stéphanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer A. Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nicholas Stong, Andrew S. Allen, Diane E. Dickel, Raphael Bernier, David U. Gorkin, L Pennacchio, Michael C. Zody, Tychele N. Turner
Tóm tắt Nền tảng Nghiên cứu trước đây về tự kỷ và các rối loạn phát triển thần kinh (NDDs) đã chỉ ra rằng các biến thể de novo mã hóa protein (DNVs) trong các gen cụ thể có một đóng góp quan trọng. Vai trò của các biến thể không mã hóa de novo đã được quan sát như là một sự gia tăng tổng thể của gán...... hiện toàn bộ
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Springer Science and Business Media LLC - - 2024
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
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-established full-length gene splicing assay (FLGSA) in conjunction with SpliceAI to prospectively interpret the splicing effects of all potential coding SNVs within the fo...... hiện toàn bộ
Pathway annotation and analysis with Reactome: The solute carrier class of membrane transporters
Springer Science and Business Media LLC - Tập 5 - Trang 1-6 - 2011
Bijay Jassal
Reactome is an expert-authored, peer-reviewed knowledge base of human reactions and pathways that functions as a data-mining resource and electronic textbook. Its current release covers approximately 23 per cent of the complete human proteome from UniProt. The pathway browser, search and data-mining tools facilitate searching and visualising pathway data and the analysis of user-supplied high-thro...... hiện toàn bộ
Copy number variant analysis for syndromic congenital heart disease in the Chinese population
Springer Science and Business Media LLC - Tập 16 - Trang 1-22 - 2022
Ping Li, Weicheng Chen, Mengru Li, Zhengshan Zhao, Zhiyu Feng, Han Gao, Meijiao Suo, Ziqing Xu, Guixiang Tian, Feizhen Wu, Sheng Wei, Guoying Huang
Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs related to these patients in China. The present study aimed to identify pathogenic CNVs associated with syndromic CHD in the Chinese population. A total of 109 sporadic patients with syndromic CHD...... hiện toàn bộ
Identification of subgroups along the glycolysis-cholesterol synthesis axis and the development of an associated prognostic risk model
Springer Science and Business Media LLC - Tập 15 - Trang 1-20 - 2021
Enchong Zhang, Yijing Chen, Shurui Bao, Xueying Hou, Jing Hu, Oscar Yong Nan Mu, Yongsheng Song, Liping Shan
Skin cutaneous melanoma (SKCM) is one of the most highly prevalent and complicated malignancies. Glycolysis and cholesterogenesis pathways both play important roles in cancer metabolic adaptations. The main aims of this study are to subtype SKCM based on glycolytic and cholesterogenic genes and to build a clinical outcome predictive algorithm based on the subtypes. A dataset with 471 SKCM specimen...... hiện toàn bộ
Databases and resources for human small non-coding RNAs
Springer Science and Business Media LLC - - 2011
Eneritz Agirre, Eduardo Eyras
Recent advances in high-throughput sequencing have facilitated the genome-wide studies of small non-coding RNAs (sRNAs). Numerous studies have highlighted the role of various classes of sRNAs at different levels of gene regulation and disease. The fast growth of sequence data and the diversity of sRNA species have prompted the need to organise them in annotation databases. There are currently seve...... hiện toàn bộ
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