Results 51 to 60 of about 3,944 (168)

Identify and validate RUNX2 and LAMA2 as novel prognostic signatures and correlate with immune infiltrates in bladder cancer

Frontiers in Oncology, 2023
BackgroundMuscle-invasive bladder cancer (MIBC) develops lymph node (LN) metastasis or distant metastasis, leading to recurrence and poor prognosis. The five-year survival rate of MIBC with LN or distant metastasis is only 8.1%; therefore, there is an ...
Yi Jin, Yi Jin, Siwei Huang, Zhanwang Wang   +3 more
doaj   +1 more source

Integrative Analysis of Plasma Proteome and Genome Reveals Novel Drug Targets for Chronic Rhinosinusitis and Nasal Polyps

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and nasal polyps (NP) are chronic inflammatory conditions with unsatisfactory treatment outcomes due to frequent recurrence of refractory disease. Identifying new therapeutic targets is essential. Methods We conducted a proteome‐wide Mendelian randomization (MR) analysis by integrating genome‐wide ...
En Zhou, Shi Luo, Yu Xiao, Bin Liu, Xu‐Ping Xiao   +4 more
wiley   +1 more source

Staphylococcal Superantigens Use LAMA2 as a Coreceptor To Activate T Cells [PDF]

The Journal of Immunology, 2018
Abstract Canonical Ag-dependent TCR signaling relies on activation of the src-family tyrosine kinase LCK. However, staphylococcal superantigens can trigger TCR signaling by activating an alternative pathway that is independent of LCK and utilizes a Gα11-containing G protein–coupled receptor (GPCR) leading to PLCβ activation.
Zhigang Li, Joseph J Zeppa, Mark A Hancock, John K McCormick, Terence M Doherty, Geoffrey N Hendy, Joaquín Madrenas   +6 more
openaire   +2 more sources

Derivation of Mouse Dome‐Shaped Trophoblast Stem Cells With Low Heterogeneity From Blastocysts

Cell Proliferation, EarlyView.
Here, Liu et al. report the generation of mouse dome‐shaped trophoblast stem cells (dTSCs) with low heterogeneity and autonomous differentiation potential. dTSCs robustly generate all trophoblast lineages in vitro and contribute to the placenta in vivo, providing a refined model for studying trophoblast development and related disorders.
Minli Liu, Shaofang Ren, Xinyu Xia, Guanlin Lu, Haojie Yang, Yi Zheng, Jiexiang Zhao, Xiao‐Yang Zhao, Mei Wang   +8 more
wiley   +1 more source

Editorial: Current Insights Into LAMA2 Disease [PDF]

Frontiers in Molecular Neuroscience, 2021
Stefano C. Previtali, Ronald D. Cohn, Ronald D. Cohn, Markus A. Ruegg   +3 more
openaire   +4 more sources

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC Medical Genomics, 2021
Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai   +5 more
doaj   +1 more source

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort [PDF]

Annals of Clinical and Translational Neurology, 2020
AbstractObjectiveTo characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering.MethodsWe conducted a retrospective, single‐center, cross‐sectional and longitudinal study on 46 LAMA2‐RD pediatric patients (37 ...
Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy   +6 more
openaire   +4 more sources

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine, 2020
Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini   +11 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source