Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

American journal of human genetics - 3 May 2018

Mighell Taylor L, Evans-Dutson Sara, O'Roak Brian J

Abstract excerpt

Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cluster Analysis
Share to PTEN gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to High-Throughput Nucleotide Sequencing

Share to Mutagenesis

Share to Mutation

Share to PTEN Phosphohydrolase

Source

Open in PubMed Open full text

Identifiers

PMID: 29706350
DOI: 10.1016/j.ajhg.2018.03.018
PMCID: PMC5986715

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.PMID 29706350Read ↗

A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotypes relationshipsSemantic proximity Read ↗

Multi-model functionalization of disease-associated <i>PTEN</i> missense mutations identifies multiple molecular mechanisms underlying protein dysfunctionSemantic proximity Read ↗

Classifying disease-associated variants using measures of protein activity and stabilitySemantic proximity Read ↗

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.Semantic proximity Read ↗

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.Semantic proximity Read ↗

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.Semantic proximity Read ↗

How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brainSemantic proximity Read ↗

Cancer and Autism: How PTEN Mutations Degrade Function at the Membrane and Isoform Expression in the Human Brain.Semantic proximity Read ↗

Classification of PTEN germline non-truncating variants: a new approach to interpretation.Semantic proximity Read ↗

A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.Semantic proximity Read ↗

Comprehensive in silico mutational-sensitivity analysis of PTEN establishes signature regions implicated in pathogenesis of Autism Spectrum Disorders.Semantic proximity Read ↗

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.