Results 111 to 120 of about 67,096 (237)

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

Genomics, 2005
Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by haploinsufficiency of the NF1 gene and of gene(s) located in adjacent flanking regions. Most of the NF1 deletions originate by nonallelic homologous recombination between repeated sequences (REP-P and -M) mapped to 17q11.2, while a few uncommon deletions show unusual breakpoints.
C. Gervasini, M. Venturin, F. Orzan, A. Friso, M. Clementi, R. Tenconi, L. Larizza, P. Riva   +7 more
openaire   +4 more sources

Multi‐level fatigue reliability assessment of reinforced concrete railway bridges

Structural Concrete, EarlyView.
Abstract This paper presents a multi‐level reliability framework for assessing the fatigue life of reinforced concrete (RC) railway trough bridges subjected to cyclic loading. The framework incorporates increasing levels of analytical complexity and real‐world data in four steps. First, an analytical model applies S–N curves and the Palmgren–Miner rule
Silvia Sarmiento, Jaime Gonzalez‐Libreros, Chao Wang, Lennart Elfgren, Ola Enoksson, Tommy Höjsten, Lars‐Olof Andersson, Gabriel Sas   +7 more
wiley   +1 more source

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta   +10 more
doaj   +1 more source

Impact of Surgical Approach on Survival and Recurrence in Borderline and Malignant Phyllodes Tumours: A Systematic Review and Meta‐Analysis

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Phyllodes tumours of the breast exhibit a spectrum of biologic behaviour, with a predisposition to recur locally and metastasize distantly in their malignant form. There are limited data regarding the optimal surgical approach. Objectives Our systematic review and meta‐analysis aimed to determine the impact of breast conserving ...
Christopher G. Harris, Gillian Heller, Farhad Azimi, Belinda Chan, Susannah Graham, Cindy Mak, Sanjay Warrier   +6 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene

Stem Cell Research
The NF1 gene is related to neurofibromatosis type 1 (NF1), which is an autosomal dominant disorder associated with multisystem involvement and epilepsy susceptibility. A human induced pluripotent stem cell (iPSC) line was derived from a pediatric patient
Fan Wu, Xinna Ji, Yanyan Gao, Wanting Liu, Yuanfang Lu, Aiyun Yang, Jianhua Wang, Qian Chen, Xue Zhang   +8 more
doaj   +1 more source

Responding to accents after experiencing interactive or mediated speech [PDF]

, 2011
Very little known is about how speakers learn about and/or respond to speech experienced without the possibility for interaction. This paper reports an experiment which considers the effects of two kinds of exposure to speech (interactive or non ...
Holmes, S., Li Santi, F., Rathcke, T., Smith, R., Stuart-Smith, J.   +4 more
core  

Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations

Cancer Science, EarlyView.
We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya, Yoshihiro Otani, Ryo Mizuta, Ryosuke Ikemachi, Mako Kamiura, Joji Ishida, Shinichi Toyooka, Daisuke Ennishi, Shuta Tomida, Shota Tanaka   +9 more
wiley   +1 more source

Targeting the microbiota‐miRNA‐protease axis: A new therapeutic avenue in melanoma

The FEBS Journal, EarlyView.
Modulation of extracellular matrix (ECM) turnover is central to melanoma progression and metastasis, driven largely by ECM proteases. This review highlights the epigenetic regulation of ECM proteases by microRNAs and their roles in melanoma growth, invasion, and immune modulation.
Elias N. Katsoulieris, Paraskevi Ioannou, Nikolaos A. Afratis   +2 more
wiley   +1 more source