Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0568-x
Abstract: PurposeWe aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients… read more here.
Keywords: kinase syndrome; report; rapamycin; chinese cohort ... See more keywords
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
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DOI: 10.1016/j.nmd.2019.06.005
Abstract: Recessive mutations in anoctamin-5 (ANO5) are responsible for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy. ANO5 mutations are prevalent in European countries, however it is not common in patients of Asian origin… read more here.
Keywords: gene mutations; chinese cohort; spectrum gene; mutations chinese ... See more keywords
Two clusters of systemic lupus erythematosus patients with muscle involvement in a Chinese cohort
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Rheumatic Diseases"
DOI: 10.1111/1756-185x.14443
Abstract: This study aimed to depict the clinical features, including myositis specific or associated antibody (MSA/MAA) profile of systemic lupus erythematosus (SLE) patients with muscle involvement in a Chinese cohort. read more here.
Keywords: chinese cohort; involvement chinese; muscle involvement; systemic lupus ... See more keywords
Machine learning prediction of symptomatic intracerebral hemorrhage after stroke thrombolysis: a cross-cultural validation in Caucasian and Han Chinese cohort
Sign Up to like & getrecommendations! Published in 2022 at "Therapeutic Advances in Neurological Disorders"
DOI: 10.1177/17562864221129380
Abstract: Background: Previous studies found that Asians seemed to have higher risk of HT after thrombolysis than Caucasians due to its race differences in genetic polymorphism. Whether the model developed by Caucasians could predict risk of… read more here.
Keywords: han chinese; thrombolysis; model; chinese cohort ... See more keywords
Relationship between DICER1 mutations and immunotherapy biomarkers in solid tumors.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2021.39.15_suppl.2603
Abstract: 2603 Background: Dicer1 functions as a tumor suppressor in mouse models. In humans, somatic mutations are associated with many cancers in adults, and patients with DICER1 syndrome with DICER1 germline mutations are susceptible to childhood… read more here.
Keywords: mutation; dicer1; cancer; cohort ... See more keywords
Different genomic profiling of sarcoma between Western and Chinese population.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2021.39.15_suppl.e23532
Abstract: e23532 Background: Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. The clinical presentation and gene mutations in different subtypes are often atypical, and the profile of gene mutations vary widely. Meanwhile… read more here.
Keywords: sarcoma; genomic profiling; ewsr1; cohort ... See more keywords
Molecular Characterization and Clinical Relevance of ANXA1 in Gliomas via 1,018 Chinese Cohort Patients
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.777182
Abstract: Annexin A1 (ANXA1) is a calcium-dependent phospholipid-binding protein and has been implicated in multiple functions essential in cancer, including cell proliferation, apoptosis, chemosensitivity, metastasis, and invasion. However, the biological role and clinical behavior of ANXA1… read more here.
Keywords: molecular characterization; gliomas; anxa1 expression; anxa1 ... See more keywords
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00984
Abstract: Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen… read more here.
Keywords: osteogenesis imperfecta; autosomal recessive; genotypic phenotypic; chinese cohort ... See more keywords
Mutation Analysis of the RPGR Gene in a Chinese Cohort
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.850122
Abstract: Purpose: The purpose of this study was to investigate the clinical and genetic characteristics of the retinitis pigmentosa GTPase regulatory factor gene (RPGR) in a Chinese cohort. Methods: A retrospective analysis was performed on 80… read more here.
Keywords: rpgr; chinese cohort; analysis; gene ... See more keywords
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.869210
Abstract: Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We conducted a pedigree analysis of… read more here.
Keywords: chinese cohort; analysis chinese; cohort infants; phenotype analysis ... See more keywords
Evaluation of the Diagnostic Value of Non-criteria Antibodies for Antiphospholipid Syndrome Patients in a Chinese Cohort
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.741369
Abstract: Objective Although specific anti-phospholipid antibodies (aPLs) have been used in the diagnosis of the antiphospholipid syndrome (APS) for years, new biomarkers are required to increase its diagnostic and risk-predictive power. This study aimed to explore… read more here.
Keywords: antiphospholipid syndrome; igg igm; chinese cohort; value ... See more keywords