Results 141 to 150 of about 193,929 (313)

Opacity complexity of automatic sequences. The general case [PDF]

arXiv
In this work we introduce a new notion called opacity complexity to measure the complexity of automatic sequences. We study basic properties of this notion, and exhibit an algorithm to compute it. As applications, we compute the opacity complexity of some well-known automatic sequences, including in particular constant sequences, purely periodic ...
arxiv  

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Efficient generation of odd order de Bruijn sequence with the same complement and reverse sequences [PDF]

arXiv
Experimental results show that, when the order $n$ is odd, there are de Bruijn sequences such that the corresponding complement sequence and the reverse sequence are the same. In this paper, we propose one efficient method to generate such de Bruijn sequences. This solves an open problem asked by Fredricksen forty years ago for showing the existence of
arxiv  

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis [PDF]

, 2012
Andreas Leidenroth, Hanne Sørmo Sorte, Gregor D. Gilfillan, Melanie Ehrlich, Robert Lyle, Jane Hewitt   +5 more
openalex   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Integrated Whole Exome and Transcriptome Sequencing in Cholesterol Metabolism in Melanoma: Systematic Review

Sudan Journal of Medical Sciences
Background: Melanoma is a highly malignant form of skin cancer that exhibits remarkable metabolic adaptability. Melanoma cells exhibit the capacity to adapt to specific conditions of the tumor microenvironment through the utilization of diverse energy ...
Mohammed Mahmoud Nour Eldin, Wesam Ahmed Nasif, Amr Ahmed Amin, GadAllah Modawe, Abdullatif Taha Babakr   +4 more
doaj   +1 more source

Identification of Single Nucleotide Changes in Genes Associated to Muscle Hypertrophy and Strength in an Elite Weightlifter Using Whole Exome Sequencing: A Case Report

Journal of Ardabil University of Medical Sciences, 2020
Background & objectives: Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. Whole exome sequencing (WES) has great potential to explore all possible genetic variants associated ...
Bahman Ebrahimi-Torkamani, Marefat Siahkouhian, Ali khazani, Anoshirvani Sajad, Bolboli Lotfali, Maryam Asadi   +5 more
doaj  

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing [PDF]

, 2012
Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter T. Vedell, Peng Cui, Xing Hua, Feng Ding, Yan Lü, Michael A. James, John D. Ebben, Haiming Xu, Alex A. Adjei, Karen Head, Jaime Wendt Andrae, Michael Tschannen, Howard J. Jacob, Jing Pan, Qi Zhang, Françoise Van den Bergh, Haijie Xiao, Ken C. Lo, Jigar Patel, Todd Richmond, Mary-Anne Watt, Thomas Albert, Rebecca R. Selzer, Marshall W. Anderson, Jiang Wang, Yian Wang, Sandra L. Starnes, Ping Yang, Ming You   +32 more
openalex   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source