Publications by authors named "H Surowy"
Article Synopsis
- Malignant sweat gland tumors, particularly eccrine porocarcinoma (EP), are rare, with about 18% of benign eccrine poroma (EPO) cases progressing to EP, highlighting a need for more understanding of EP biology and mutations involved in this transformation.
- Transcriptome profiling of 23 EP and normal skin samples showed significant gene expression diversity and downregulation in EP, including specific genes that indicated a stepwise transition from normal skin to EPO to EP.
- The study suggests that EP has a complex molecular nature linked to tumor development, with potential involvement of the p53 and EGFR pathways, and calls for further research with larger sample sizes to validate these findings.
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.
View Article and Find Full Text PDFCoffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.
View Article and Find Full Text PDFMultiple synostoses syndrome (OMIM: #186500, #610017, #612961, #617898) is a genetically heterogeneous group of autosomal dominant diseases characterized by abnormal bone unions. The joint fusions frequently involve the hands, feet, elbows or vertebrae. Pathogenic variants in have been associated with multiple synostoses syndrome type 3 (SYNS3).
View Article and Find Full Text PDFBackground: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.