Cargando…

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers

BACKGROUND: PTEN is a multi-functional tumor suppressor protein regulating cell growth, immune signaling, neuronal function, and genome stability. Experimental characterization can help guide the clinical interpretation of the thousands of germline or somatic PTEN variants observed in patients. Two...

Descripción completa

Detalles Bibliográficos
Autores principales:	Matreyek, Kenneth A., Stephany, Jason J., Ahler, Ethan, Fowler, Douglas M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518224/ https://www.ncbi.nlm.nih.gov/pubmed/34649609 http://dx.doi.org/10.1186/s13073-021-00984-x

Ejemplares similares

A platform for functional assessment of large variant libraries in mammalian cells
por: Matreyek, Kenneth A., et al.
Publicado: (2017)

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact
por: Chiasson, Melissa A, et al.
Publicado: (2020)

Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance
por: Cagiada, Matteo, et al.
Publicado: (2021)

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing
por: Matreyek, Kenneth A., et al.
Publicado: (2018)

An improved platform for functional assessment of large protein libraries in mammalian cells
por: Matreyek, Kenneth A, et al.
Publicado: (2020)

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
por: Klein, Jason C., et al.
Publicado: (2019)

Designed active-site library reveals thousands of functional GFP variants
por: Weinstein, Jonathan Yaacov, et al.
Publicado: (2023)

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
por: Kaja, Elżbieta, et al.
Publicado: (2022)

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants
por: Sutera, Samuele, et al.
Publicado: (2022)

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
por: Pujol‐Giménez, Jonai, et al.
Publicado: (2023)

Searching thousands of genomes to classify somatic and novel structural variants using STIX
por: Chowdhury, Murad, et al.
Publicado: (2022)

Bacterium of one thousand and one variants: genetic diversity of Neisseria gonorrhoeae pathogenicity.
por: Kurzyp, Kacper, et al.
Publicado: (2023)

Mammalian Genomic Manipulation with Orthogonal Bxb1 DNA Recombinase Sites for the Functional Characterization of Protein Variants
por: Roelle, Sarah M., et al.
Publicado: (2023)

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
por: Muhammad, Ayesha, et al.
Publicado: (2023)

Mechanistic impact of oligomer poisoning by dominant-negative CARD11 variants
por: Bedsaul, Jacquelyn R., et al.
Publicado: (2022)

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
por: Asano, Takaki, et al.
Publicado: (2021)

SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
por: Belyeu, Jonathan R, et al.
Publicado: (2018)

Alternative Splice Variants Modulates Dominant-Negative Function of Helios in T-Cell Leukemia
por: Zhao, Shaorong, et al.
Publicado: (2016)

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant
por: Doisne, Nicolas, et al.
Publicado: (2021)

Dominant Negative TRAF3 Variant With Recurrent Mycobacterium abscessus Infection and Bronchiectasis
por: Liew, Mei Fong, et al.
Publicado: (2022)

Mining of Thousands of Prokaryotic Genomes Reveals High Abundance of Prophages with a Strictly Narrow Host Range
por: López-Leal, Gamaliel, et al.
Publicado: (2022)

In renal cell carcinoma the PTEN splice variant PTEN-Δ shows similar function as the tumor suppressor PTEN itself
por: Breuksch, Ines, et al.
Publicado: (2018)

Molecular Characterization of the Dominant-Negative Role of Cancer-Associated PTEN: Sometimes, Null is Better
por: Marchi, Saverio, et al.
Publicado: (2014)

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes
por: Wang, Zishan, et al.
Publicado: (2021)

Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX
por: Chowdhury, Murad, et al.
Publicado: (2022)

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant
por: Hawkins, Nicole A., et al.
Publicado: (2020)

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants
por: Kanai, Stanley M., et al.
Publicado: (2022)

Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variant
por: Zhan, Xiaoqin, et al.
Publicado: (2022)

Modified amyloid variants in pathological subgroups of β‐amyloidosis
por: Gerth, Janina, et al.
Publicado: (2018)

Transcript assembly and abundance estimation from RNA-Seq reveals thousands of new transcripts and switching among isoforms
por: Trapnell, Cole, et al.
Publicado: (2010)

Abstract 1390: Multiplex measurements of the impacts of ACE2 sequence and cell surface abundance during SARS-like coronavirus entry
por: Shukla, Nidhi, et al.
Publicado: (2023)

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
por: Karczewski, Konrad J., et al.
Publicado: (2022)

A Large Panel of Drosophila simulans Reveals an Abundance of Common Variants
por: Signor, Sarah A, et al.
Publicado: (2017)

A dominant-negative mutant inhibits multiple prion variants through a common mechanism
por: Pei, Fen, et al.
Publicado: (2017)

Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease
por: Herborg, Freja, et al.
Publicado: (2021)

Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization
por: Young, Lucy C., et al.
Publicado: (2023)

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants
por: Torices, Leire, et al.
Publicado: (2023)

One thousand simple rules
por: Bourne, Philip E., et al.
Publicado: (2018)

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
por: Cirulli, Elizabeth T., et al.
Publicado: (2020)

Heterozygosity mapping for human dominant trait variants
por: Imai‐Okazaki, Atsuko, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_0h3peep1ftd1f6rsapuor9m67l