[HTML][HTML] Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome
L Zhou, X Wang, J An, Y Zhang, M He… - Experimental Eye …, 2023 - Elsevier
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger
syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2 and …
syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2 and …
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma
V Lo Faro, JB Ten Brink, H Snieder, NM Jansonius… - BMC genomics, 2021 - Springer
Background To investigate whether copy number variations (CNVs) are implicated in
molecular mechanisms underlying primary open-angle glaucoma (POAG), we used …
molecular mechanisms underlying primary open-angle glaucoma (POAG), we used …
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
Y Vetriselvan, A Manoharan, M Murugan… - Biochemical …, 2024 - Springer
Paired homologous domain transcription factor 2 (PITX2) is critically involved in ocular and
cardiac development. Mutations in PITX2 are consistently reported in association with …
cardiac development. Mutations in PITX2 are consistently reported in association with …
Dual-role transcription factors stabilize intermediate expression levels
Precise control of gene expression levels is essential for normal cell functions, yet how they
are defined and tightly maintained, particularly at intermediate levels, remains elusive. Here …
are defined and tightly maintained, particularly at intermediate levels, remains elusive. Here …
[引用][C] Genetic Study of PITX2 Mutation Leading to Non-syndromic Tooth Agenesis
Q ZHANG, S LIN, T ZHANG, H WANG, Y YE, X ZHANG - Journal of Oral Science …, 2022