Associated Papers
A newly identified pathology of episodic angioedema with hypereosinophilia (Gleich syndrome) revealed by nultiomics analysis.
Koreeda T et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.
Petiti J et al.
International Journal of Molecular Sciences, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family.
Biswas S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.
Vogelaar IP et al.
Cancers, 2022
The effects of CD148 Q276P/R326Q polymorphisms in A431D epidermoid cancer cell proliferation and epidermal growth factor receptor signaling.
He L et al.
Cancer Reports (hoboken, N.j.), 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.
Gatua M et al.
Frontiers in Genetics, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
Hendriks WJAJ et al.
Frontiers in Cell and Developmental Biology, 2022
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.
ElHefnawi M et al.
Gene, 2021
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention.
Pelizzo G et al.
Pediatric Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Comments on: "Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk".
Gholami M et al.
Journal of Applied Genetics, 2019
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk.
Laczmanska I et al.
Journal of Applied Genetics, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
No impact of PTPN22, PTPRJ and ACP1 genes polymorphisms on the risk of immune thrombocytopenia in French adult patients.
Lioger B et al.
Thrombosis Research, 2016
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to Non-Hodgkin's lymphoma.
Aya-Bonilla C et al.
Genes, Chromosomes & Cancer, 2013
The protein tyrosine phosphatase receptor type J is regulated by the pVHL-HIF axis in clear cell renal cell carcinoma.
Casagrande S et al.
The Journal of Pathology, 2013
Polymorphisms of protein tyrosine phosphatase CD148 influence FcγRIIA-dependent platelet activation and the risk of heparin-induced thrombocytopenia.
Rollin J et al.
Blood, 2012
Role of PTPRJ genotype in papillary thyroid carcinoma risk.
Iuliano R et al.
Endocrine-related Cancer, 2010
Missense polymorphisms of PTPRJ and PTPN13 genes affect susceptibility to a variety of human cancers.
Mita Y et al.
Journal of Cancer Research and Clinical Oncology, 2010
NMD inhibition fails to identify tumour suppressor genes in microsatellite stable gastric cancer cell lines.
Buffart TE et al.
Bmc Medical Genomics, 2009
PTPRJ haplotypes and colorectal cancer risk.
Toland AE et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008
Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumors using the MassEXTEND assay: single-nucleotide polymorphism loss of heterozygosity analysis of the protein tyrosine phosphatase receptor type J in familial colorectal cancer.
van Puijenbroek M et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer.
Lesueur F et al.
Human Molecular Genetics, 2005
The tyrosine phosphatase PTPRJ/DEP-1 genotype affects thyroid carcinogenesis.
Iuliano R et al.
Oncogene, 2004
Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.
Ruivenkamp CA et al.
Nature Genetics, 2002
Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.
Balabanski L et al.
Technology in Cancer Research & Treatment, 0