Zobrazeno 1 - 10
of 641
pro vyhledávání: '"Genomic rearrangement"'
Autor:
Akanksha Rajput, Colleen Reilly, Airen Zaldivar Peraza, Jian Wang, Edgar Sioson, Gavriel Matt, Robin Paul, Congyu Lu, Aleksandar Acic, Karishma Gangwani, Xin Zhou
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 3467-3471 (2024)
The ProteinPaint Hi-C tool (ppHiC) facilitates web-based visualization and collaborative exploration of Hi-C data, a vital resource for understanding three-dimensional genomic structures. ppHiC allows researchers to easily analyze large Hi-C datasets
Externí odkaz:
https://doaj.org/article/2709347619be4a0a91221077b9e73e36
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract The Microcystis mobilome is a well-known but understudied component of this bloom-forming cyanobacterium. Through genomic and transcriptomic comparisons, we found five families of transposases that altered the expression of genes in the well
Externí odkaz:
https://doaj.org/article/7def7a41d3024e7f8af094521dab63e0
Autor:
Elisa Rahikkala, Jonna Komulainen‐Ebrahim, Jussi‐Pekka Tolonen, Sandra Vorimo, Maria Suo‐Palosaari, Päivi Vieira, Johanna Piispala, Johanna Uusimaa, Katri Pylkäs, Tuomo Mantere
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background X‐linked recessive type 3 Charcot–Marie–Tooth (CMTX3) is a rare subtype of childhood‐onset CMT. To date, all reported CMTX3 patients share a common founder 78 kb insertion from chromosome 8 into the Xq27.1 palindrome regio
Externí odkaz:
https://doaj.org/article/2660da9047ef49dc9313746f0302fc09
Autor:
Taner Karakaya, Ayca Kocaaga
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pathogenic (P/LP) germline variants have been demonstrated to be harbored in a subgroup of EOBC individuals, a
Externí odkaz:
https://doaj.org/article/0a0057289aab40cab60e40a82378d5ef
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan‐cancer analysis
Autor:
Zhe Sun, Chujie Bai, Miaoyi Su, Haimeng Tang, Xiaoying Wu, Yue Wang, Hua Bao, Xunbiao Liu, Xue Wu, Yang Shao, Bei Xu
Publikováno v:
Molecular Oncology, Vol 17, Iss 9, Pp 1917-1929 (2023)
The presence of large genomic rearrangements (LGRs) has been heavily investigated in breast and ovarian cancer. However, correlations between LGRs and cancer types beyond these two have not been extensively profiled, likely due to the highly ineffici
Externí odkaz:
https://doaj.org/article/eaf06227f43a4ee4beb07025d445b08b
Autor:
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101863- (2024)
Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural v
Externí odkaz:
https://doaj.org/article/70b601806d7c45679087a28418058b52
Publikováno v:
Zhongguo aizheng zazhi, Vol 33, Iss 4, Pp 388-396 (2023)
Chromothripsis is a complex genomic rearrangement event in which localized regions of one or several chromosomes fragment in response to stress (ionizing radiation, chemical stimulation, infection, etc.) and then assembles in random order. In recent
Externí odkaz:
https://doaj.org/article/e5b735fc7bb54b71bc546820565da086
Emergence of a Novel G4P[6] Porcine Rotavirus with Unique Sequence Duplication in NSP5 Gene in China
Autor:
Xia Zhou, Xueyan Hou, Guifa Xiao, Bo Liu, Handuo Jia, Jie Wei, Xiaoyun Mi, Qingyong Guo, Yurong Wei, Shao-Lun Zhai
Publikováno v:
Animals, Vol 14, Iss 12, p 1790 (2024)
Rotavirus is a major causative agent of diarrhoea in children, infants, and young animals around the world. The associated zoonotic risk necessitates the serious consideration of the complete genetic information of rotavirus. A segmented genome makes
Externí odkaz:
https://doaj.org/article/9976d5778ffe420f928539bec663d637
Autor:
Yeeun Shim, Jongsoo Lee, Jieun Seo, Cheol Keun Park, Saeam Shin, Hyunho Han, Seung-Tae Lee, Jong Rak Choi, Byung Ha Chung, Young Deuk Choi
Publikováno v:
Cancer Cell International, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Prostate cancer (PCa) is characterized by complex genomic rearrangements such as the ETS oncogene family fusions, yet the clinical relevance is not well established. While paneled genetic tests of DNA repair genes are recommended
Externí odkaz:
https://doaj.org/article/bd6931b0a304437f85397a78c6d0c1ab
Autor:
Ahmed Bouras, Clementine Legrand, Jihen Kourda, Eric Ruano, Chloé Grand‐Masson, Cedrick Lefol, Qing Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. The advent of next‐generation sequencing (NGS) technologies has accel
Externí odkaz:
https://doaj.org/article/b529fed895ec4547819c48b86284c231