Associated Papers
Severe Aplastic Anemia Complicated with Fatal Invasive Fungal Infections in a Young Patient Harboring Perforin Gene Polymorphisms.
Krithinaki MI et al.
Hematology Reports, 2025
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.
Almalky MA et al.
The Pan African Medical Journal, 2020
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
Hu X et al.
Bmc Medical Genetics, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.
Liu D et al.
Bmc Medical Genetics, 2017
Broad Impairment of Natural Killer Cells from Operationally Tolerant Kidney Transplanted Patients.
Dugast E et al.
Frontiers in Immunology, 2017
[Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis].
Zhou XH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.
House IG et al.
Immunology and Cell Biology, 2015
[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
Sun S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
Manso R et al.
Plos One, 2014
Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.
Chen Y et al.
Yonsei Medical Journal, 2013
Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations.
Wang Y et al.
Annals of Hematology, 2012
[A case report of adult onset of primary hemophagocytic syndrome with literature review].
Wang YN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
Lee SM et al.
The Journal of Pediatrics, 2006
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
McCormick J et al.
American Journal of Medical Genetics. Part A, 2003
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy.
Buttini S et al.
Genes and Immunity, 0
Perforin gene PRF1 c.900C> T polymorphism and HIV-1 vertical transmission.
Zupin L et al.
Genetics and Molecular Biology, 0