-
Article
Open AccessThe STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay
Ischemic stroke is a leading cause of global mortality and long-term disability. However, there is a paucity of whole-genome sequencing studies on ischemic stroke, resulting in limited knowledge of the interpl...
-
Article
Open AccessIntegrated multi-omics analyses and functional validation reveal TTK as a novel EMT activator for endometrial cancer
Cancer-testis antigens (CTAs) are often expressed in tumor and testicular tissues but not in other normal tissues. To date, there has been no comprehensive study of the expression and clinical significance of ...
-
Article
Open AccessT Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects
Both DNA damage response and methylation play a crucial role in antigen receptor recombination by creating a diverse repertoire in develo** lymphocytes, but how their defects relate to T cell repertoire and ...
-
Article
Open AccessMyopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype
Zinc finger 644 (Zfp644 in mouse, ZNF644 in human) gene is a transcription factor whose mutation S672G is considered a potential genetic factor of inherited high myopia. ZNF644 interacts with G9a/GLP complex, ...
-
Article
Open AccessMolecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of ...
-
Article
Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis
-
Article
Open AccessA rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recess...
-
Article
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions
Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to date. Next Generation Sequencing (NGS) has recently b...
-
Article
Spectrum of Phenotypes Associated with Mutations in LRBA
To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmu...
-
Article
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive tra...
-
Article
Open AccessAdult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized b...
