Therapeutically targeting cancers that overexpress FOXC1: A transcriptional driver of cell plasticity, partial EMT, and cancer metastasis

T Ray, T Ryusaki, PS Ray - Frontiers in Oncology, 2021 - frontiersin.org
Metastasis accounts for more than 90% of cancer related mortality, thus the most pressing
need in the field of oncology today is the ability to accurately predict future onset of …

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

AS Ma, JR Grigg, RV Jamieson - Human Genetics, 2019 - Springer
Disorders of the anterior segment of the eye encompass a variety of clinical presentations
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

MMY Chan, O Sadeghi-Alavijeh, FM Lopes, AC Hilger… - Elife, 2022 - elifesciences.org
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in
children, but the genetic architecture of this rare disorder remains unknown. We performed a …

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

R Ferese, M Bonetti, F Consoli, V Guida… - Human …, 2018 - Wiley Online Library
Atrioventricular septal defect (AVSD) may occur as part of a complex disorder (eg, Down
syndrome, heterotaxy), or as isolate cardiac defect. Multiple lines of evidence support a role …

[HTML][HTML] PFOS disrupts key developmental pathways during hiPSC-derived cardiomyocyte differentiation in vitro

N Davidsen, L Ramhøj, I Kugathas, B Evrard… - Toxicology in Vitro, 2022 - Elsevier
Exposure to perfluorooctanesulfonic acid (PFOS) has been associated with congenital heart
disease (CHD) and decreased birth weight. PFOS exposure can disrupt signaling pathways …

Genetic changes and testing associated with childhood glaucoma: A systematic review

A Kumar, Y Han, JT Oatts - Plos one, 2024 - journals.plos.org
Many forms of childhood glaucoma have been associated with underlying genetic changes,
and variants in many genes have been described. Currently, testing is variable as there are …

Whole-exome screening for primary congenital glaucoma in Lebanon

NJ Makhoul, Z Wehbi, D El Hadi… - Ophthalmic …, 2023 - Taylor & Francis
Purpose Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese
families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to …

Molecular genetics of primary open-angle glaucoma

M Yadav, A Bhardwaj, A Yadav, R Dada… - Indian Journal of …, 2023 - journals.lww.com
Glaucoma is a series of linked optic diseases resulting in progressive vision loss and total
blindness due to the acquired loss of retinal ganglion cells. This harm to the optic nerve …

Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing

JJ Ye, Y Niu, Y Peng, J Huang, H Wang, Q Fu, F Li… - Genomics, 2023 - Elsevier
Objective Deleterious genetic variants comprise one cause of cardiac conotruncal defects
(CTDs). Genes associated with CTDs are gradually being identified. In the present study, we …

Comprehensive review of cardiovascular diseases, diabetes, and hypercholesterolemia in Lebanon

YA Jelwan, AAA Asbeutah, FK Welty - Cardiology in Review, 2020 - journals.lww.com
Abstract The Middle East and North Africa regions, including Lebanon, have recently
witnessed rapid urbanization and modernization over the last couple of decades that has led …