Publications by authors named "Aleck E Cervantes"
Background: To identify additional at-risk groups for lung cancer screening, which targets persons with a long history of smoking and thereby misses younger or nonsmoking cases, the authors evaluated germline pathogenic variants (PVs) in patients with lung adenocarcinoma for an association with an accelerated onset.
Methods: The authors assembled a retrospective cohort (1999-2018) of oncogenetic clinic patients with lung adenocarcinoma. Eligibility required a family history of cancer, data on smoking, and a germline biospecimen to screen via a multigene panel.
Purpose: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan (SRLP) genes on chromosome 12.
Methods: Clinical characterization was performed using slit lamp biomicroscopic and optical coherence tomography (OCT) imaging. Genomic DNA was collected from affected and unaffected family members, and a cytogenomic array was used to identify copy number variations (CNV) present in the PACD locus.
Article Synopsis
- The study aimed to explore the role of a specific gene in the development and behavior of corneal endothelial cells related to posterior polymorphous corneal dystrophy 3 (PPCD3).
- Researchers used a human corneal endothelial cell line and examined how knocking down the gene affected cell growth, death, movement, and barrier function.
- Results showed that knocking down the gene didn't significantly change cell growth, but it increased sensitivity to UV-induced cell death and improved barrier function, suggesting this gene may influence the corneal endothelium's response and characteristics in PPCD3.
Purpose: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).
Methods: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent.
Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations.
Methods: The promoter, 5' UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number variation (CNV) analysis in the PPCD1 and PPCD3 intervals was performed on DNA samples from eight probands using aCGH.