Associated Papers
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
Barakeh DH et al.
Oncotarget, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.
Tyran M et al.
Cancers, 2019
Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.
Savola P et al.
Nature Communications, 2017
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.
Ciambotti B et al.
Journal of Pediatric Hematology/oncology, 2014
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.
Cannella S et al.
Cancer, 2007
The consensus coding sequences of human breast and colorectal cancers.
Sjöblom T et al.
Science (new York, N.y.), 2006
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
Molleran Lee S et al.
Journal of Medical Genetics, 2004
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Göransdotter Ericson K et al.
American Journal of Human Genetics, 2001
[Familial hemophagocytic lymphohistiocytosis: diagnosis, treatment and pathophysiological mechanisms].
Henter JI et al.
Lakartidningen, 2000