Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.
Canchi Sistla H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F et al.
Cell Death & Disease, 2024
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Miano M et al.
Frontiers in Immunology, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
The genetic landscape of the FAS pathway deficiencies.
Magerus A et al.
Biomedical Journal, 2021
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M et al.
British Journal of Haematology, 2019
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.
Rieux-Laucat F et al.
Journal of Clinical Immunology, 2018
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.
Tripodi SI et al.
Immunology Letters, 2016
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Peterlongo P et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Apoptosis gene polymorphisms and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy.
Meyer A et al.
Urologic Oncology, 2013
Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis.
Yan S et al.
Genetics and Molecular Research : Gmr, 2012
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.
Kirchhoff T et al.
Plos One, 2012
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
Tadaki H et al.
International Journal of Immunogenetics, 2011
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
Zhang B et al.
The Lancet. Oncology, 2011
Functional polymorphisms in cell death pathway genes and risk of renal cell carcinoma.
Zhu J et al.
Molecular Carcinogenesis, 2010
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.
Drmanac R et al.
Science (new York, N.y.), 2010
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers.
Palanca Suela S et al.
Breast Cancer Research and Treatment, 2010
Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.
Gemignani F et al.
Mutation Research, 2009
The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study.
Frank B et al.
Breast Cancer Research and Treatment, 2008
Caspase polymorphisms and genetic susceptibility to multiple myeloma.
Hosgood HD et al.
Hematological Oncology, 2008
CASP8 polymorphisms, estrogen and progesterone receptor status, and breast cancer risk.
Han S et al.
Breast Cancer Research and Treatment, 2008
Genotyping panel for assessing response to cancer chemotherapy.
Dai Z et al.
Bmc Medical Genomics, 2008
Disorders of apoptosis: mechanisms for autoimmunity in primary immunodeficiency diseases.
Oliveira JB et al.
Journal of Clinical Immunology, 2008
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
Cerutti E et al.
Bmc Immunology, 2007
A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers.
Sun T et al.
Nature Genetics, 2007
DNA repair and cell cycle control genes and the risk of young-onset lung cancer.
Landi S et al.
Cancer Research, 2006
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi R et al.
Blood, 2006
Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk.
Frank B et al.
International Journal of Cancer, 2006
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Zhu S et al.
Human Genetics, 2006
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.
Campagnoli MF et al.
Haematologica, 2006
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.
Frank B et al.
Carcinogenesis, 2006
Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome.
Rieux-Laucat F
Current Directions in Autoimmunity, 2006
A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.
Landi S et al.
Experimental Lung Research, 2005
Inactivating mutations of the caspase-10 gene in gastric cancer.
Park WS et al.
Oncogene, 2002
Kozak sequence polymorphism in the platelet GPIbalpha gene is not associated with risk of myocardial infarction.
Croft SA et al.
Blood, 2000
The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population.
Grønbaek K et al.
Blood, 2000
[Chronic granulomatous disease].
Alvarez-Cardona A et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0
[Satisfactory evolution of a patient diagnosed in childhood with Bruton's disease].
Román Jiménez MG et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0
[Wiskott-Aldrich syndrome].
Román Jiménez MG et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0
[Wiskott-Aldrich Syndrome: An updated review].
Blancas-Galicia L et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0
Analysis of CASP8 D302H Gene Variants in Patients with Primary Brain Tumors.
Cacina C et al.
In Vivo (athens, Greece), 0