Arif Bülent Ekici

The paper identifies LAMA5 as a candidate gene for idiopathic short stature, showing its role in ECM-WNT signaling during chondrogenesis and demonstrating partial rescue via WNT activation.

This study shows that Piezo1 upregulation in spinal cord astrocytes during EAE correlates with ECM remodeling and clinical disease severity.

The paper establishes urine-derived stem cells (USCs) as a non-invasive source for chondrogenesis, revealing cell hierarchy and differentiation trajectories through single-cell RNA sequencing.

The paper introduces a method to link single-cell imaging and gene expression data through multimodal droplet barcoding, identifying genes correlated with phenotypic features.

The paper identifies a unique myeloid precursor population that facilitates the spread of psoriatic inflammation from skin to joints, interacting with fibroblasts to regulate T cell IL-17 expression.

This study uses blood vessel organoids to compare gene expression and cellular behavior in CCM1, CCM2, and CCM3 knockout models, revealing distinct functional roles that may explain differing disease severity.

The paper compares glycosylation patterns of IgA1 and IgA2, finding subclass-specific differences despite similar glycosylation enzyme expression.

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

The paper identifies a TCF-4-dependent transcription factor network regulating commissure development in mice using scRNA-seq and bioinformatic analysis.

This study improves transcriptome-wide association studies by integrating pleiotropy-guided methods with GWAS data to identify new cancer susceptibility genes.

The paper identifies CRNKL1 as a regulator that enhances nuclear retention of intron-retaining HIV-1 and cellular mRNAs, affecting their cytoplasmic levels.

The paper identifies miRNAs that enhance dendritic cell immunogenicity using RNA sequencing and systems biology, and provides a database for therapeutic miRNA-gene interactions.

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.

This study identifies 32 new breast cancer susceptibility loci through GWAS, with associations varying by tumor subtype and genetic correlations among subtypes.

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

The paper analyzes genetic integrity in iPSCs from the ForIPS consortium, identifying somatic variants and highlighting the need for individual clone evaluation.