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A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease
Springer Science and Business Media LLC - - 2016
Elisa Napolitano Ferreira, Bruna Durães de Figueiredo Barros, Jorge Estefano de Souza, Renan Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antônio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias‐Neto, Ademar Lopes, Sandro J. de Souza
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
A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures
Springer Science and Business Media LLC - - 2020
Lipeng Jin, Chenyao Li, Tao Liu, Lei Wang
Abstract Background Colon adenocarcinoma (COAD) is one of the common gastrointestinal malignant diseases, with high mortality rate and poor prognosis due to delayed diagnosis. This study aimed to construct a prognostic prediction model for patients with colon adenocarcinoma (COAD) recurrence.... 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
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes
Springer Science and Business Media LLC - Tập 16 - Trang 1-12 - 2022
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou
Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function. Here, we describe five unrelated family trios with multisystem ciliopathy syndromes, including situs abnormality, complex congenital heart disease, nephro...... hiện toàn bộ
Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses
Springer Science and Business Media LLC - Tập 3 - Trang 1-12 - 2009
Meena K. Sakharkar, Kishore R. Sakharkar, Vincent T.K. Chow
The diversity of hosts, pathogens and host-pathogen relationships reflects the influence of selective pressures that fuel diversity through ongoing interactions with other rapidly evolving molecules in the environment. This paper discusses specific examples illustrating the phenomenon of diversity of hosts and pathogens, with special reference to human papillomaviruses and H5NI influenza viruses. ...... 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
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