Cargando…

Silent but significant - A synonymous SNV alters prognosis in Pompe disease

Detalles Bibliográficos
Autores principales:	Lukas, Jan, Hermann, Andreas, Giese, Anne-Katrin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562060/ https://www.ncbi.nlm.nih.gov/pubmed/30982766 http://dx.doi.org/10.1016/j.ebiom.2019.04.015

Ejemplares similares

Glucocorticoids and “Stress” Are Not Synonymous
por: MacDougall-Shackleton, S A, et al.
Publicado: (2019)

Teaching tolerance: New approaches to enzyme replacement therapy for Pompe disease
por: Cousens, Leslie P., et al.
Publicado: (2012)

Most synonymous allelic variants in HIV tat are not silent
por: Giacoletto, Christopher J., et al.
Publicado: (2023)

Pompe disease: a short comment
por: Nigro, Giovanni
Publicado: (2013)

Synonymous Variants of Uncertain Silence
por: Giacoletto, Christopher J., et al.
Publicado: (2023)

Skeletal myopathy in Pompe disease: a failure of satellite cell activation?
por: Hiniker, Annie, et al.
Publicado: (2018)

pCADD: SNV prioritisation in Sus scrofa
por: Groß, Christian, et al.
Publicado: (2020)

Diabetic Kidney Disease: The “Silent” Majority?
por: Yau, Amy, et al.
Publicado: (2021)

The Silent Epidemic
por: Rippe, James M.
Publicado: (2021)

scSNV: accurate dscRNA-seq SNV co-expression analysis using duplicate tag collapsing
por: Wilson, Gavin W., et al.
Publicado: (2021)

Non-Silent Story on Synonymous Sites in Voltage-Gated Ion Channel Genes
por: Zhou, Tong, et al.
Publicado: (2012)

Studying the silent side of birdsong
por: Cardoso, Gonçalo C
Publicado: (2014)

Commentary: Tackling the “silent epidemic”
por: Srinivasan, Bhaskar, et al.
Publicado: (2022)

A comparative analysis of algorithms for somatic SNV detection in cancer
por: Roberts, Nicola D., et al.
Publicado: (2013)

Silent Triage: Public Health decision-making beyond prioritisation
por: Kuhn, Eva, et al.
Publicado: (2023)

Airway closure: the silent killer of peripheral airways
por: Pelosi, Paolo, et al.
Publicado: (2007)

Even Silent Hypoglycemia Induces Cardiac Arrhythmias
por: Clark, Amy L., et al.
Publicado: (2014)

Comprehensive benchmarking of SNV callers for highly admixed tumor data
por: Bohnert, Regina, et al.
Publicado: (2017)

metaSNV: A tool for metagenomic strain level analysis
por: Costea, Paul Igor, et al.
Publicado: (2017)

VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV
por: Ptok, Johannes, et al.
Publicado: (2020)

SNV-FEAST: microbial source tracking with single nucleotide variants
por: Briscoe, Leah, et al.
Publicado: (2023)

Altered pathways and colorectal cancer prognosis
por: Moreno, Victor, et al.
Publicado: (2015)

Moving toward a prevention strategy for osteoporosis by giving a voice to a silent disease
por: Jepsen, Karl J., et al.
Publicado: (2016)

Pregnancy in Pompe disease
por: Plöckinger, Ursula
Publicado: (2013)

Familial Pompe Disease
por: Tecellioglu, Mehmet, et al.
Publicado: (2015)

Reproducibility of SNV-calling in multiple sequencing runs from single tumors
por: Derryberry, Dakota Z., et al.
Publicado: (2016)

Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments
por: N. M., Prashant, et al.
Publicado: (2021)

metaSNV v2: detection of SNVs and subspecies in prokaryotic metagenomes
por: Van Rossum, Thea, et al.
Publicado: (2021)

Characteristics of Pompe disease in China: a report from the Pompe registry
por: Zhao, Yuying, et al.
Publicado: (2019)

Silent damage? Occult HCV replication and histological disease may occur following apparent HCV clearance
por: Manickam, Cordelia, et al.
Publicado: (2019)

Enjoy the Silence: Nearly Half of Human tRNA Genes Are Silent
por: Torres, Adrian Gabriel
Publicado: (2019)

The silent impact of COVID-19 on dental care for hearing-impaired patients
por: Levit, Michael, et al.
Publicado: (2021)

Commentary: Obstructive sleep apnea: A silent associate of diabetic retinopathy
por: Ramasamy, Kim, et al.
Publicado: (2021)

Intergenerational trauma: A silent contributor to mental health deterioration in Afghanistan
por: Ullah, Hamid, et al.
Publicado: (2023)

Gene flow in microbial communities could explain unexpected patterns of synonymous variation in the Escherichia coli core genome
por: Maddamsetti, Rohan
Publicado: (2016)

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism
por: Geysels, Romina Celeste, et al.
Publicado: (2022)

Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease
por: Dehiya, Vasundhara, et al.
Publicado: (2018)

Time to relook into Non-Communicable Diseases (NCDs) in Africa: A silent threat overwhelming global health in Africa
por: Owolade, Adedoyin, et al.
Publicado: (2022)

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population
por: Byrne, B, et al.
Publicado: (2008)

Emergency department length of stay (ED-LOS) as synonymous with critical and clinical risk
por: Cecchi, Enrica
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_9328185sqnvg0s8qp2vvs07ihm