Associated Papers
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 2026
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
Kanazashi Y et al.
Journal of Human Genetics, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 2024
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Cifuentes GA et al.
British Journal of Cancer, 2023
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Establishment and characterization of HROC69 - a Crohn´s related colonic carcinoma cell line and its matched patient-derived xenograft.
Kuehn F et al.
Scientific Reports, 2016
PTEN mutation, loss of heterozygosity, promoter methylation and expression in colorectal carcinoma: two hits on the gene?
Hühns M et al.
Oncology Reports, 2014
Alterations of INPP4B, PIK3CA and pAkt of the PI3K pathway are associated with squamous cell carcinoma of the lung.
Stjernström A et al.
Cancer Medicine, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Mutational and immunohistochemical study of the PI3K/Akt pathway in papillary thyroid carcinoma in Greece.
Sozopoulos E et al.
Endocrine Pathology, 2010
Loss of heterozygosity and mutational analysis of the PTEN/MMAC1 gene in synchronous endometrial and ovarian carcinomas.
Lin WM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 1998
PI3K/AKT pathway genetic alterations and dysregulation of expression in bladder cancer.
Kachrilas S et al.
Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 0