Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Z Tümer, D Bach-Holm - European Journal of Human Genetics, 2009 - nature.com
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder, which
encompasses a range of congential malformations affecting the anterior segment of the eye …

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 …

[HTML][HTML] CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

E Campos-Mollo, MP López-Garrido… - Molecular …, 2009 - ncbi.nlm.nih.gov
Purpose To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to
primary congenital glaucoma (PCG) in Spanish patients. Methods We analyzed, by …

Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells

HM Schmitt, KM Hake, KM Perkumas… - Human Molecular …, 2023 - academic.oup.com
Pseudoexfoliation glaucoma (PEXG) is characterized by dysregulated extracellular matrix
(ECM) homeostasis that disrupts conventional outflow function and increases intraocular …

Updates on the molecular genetics of primary congenital glaucoma

C Ling, D Zhang, J Zhang… - Experimental and …, 2020 - spandidos-publications.com
Primary congenital glaucoma (PCG) is one of the primary causes of blindness in children
and is characterized by congenital trabecular meshwork and anterior chamber angle …

Primary congenital glaucoma and the involvement of CYP1B1

K Kaur, AK Mandal, S Chakrabarti - Middle East African journal of …, 2011 - journals.lww.com
Primary congenital glaucoma (PCG) is an autosomal recessive disorder in children due to
the abnormal development of the trabecular meshwork and the anterior chamber angle. With …

Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma

OM Siggs, E Souzeau, F Pasutto… - JAMA …, 2019 - jamanetwork.com
Importance Both primary and secondary forms of childhood glaucoma have many distinct
causative mechanisms, and in many cases a cause is not immediately clear. The broad …

Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss

AC Gauthier, JL Wiggs - Experimental eye research, 2020 - Elsevier
Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are
currently known to cause inherited forms of glaucoma with onset before age 20. While all the …

Screening and functional analysis of TEK mutations in Chinese children with primary congenital glaucoma

Y Qiao, Y Chen, C Tan, X Sun, X Chen, J Chen - Frontiers in Genetics, 2021 - frontiersin.org
Purposes: Recent studies have suggested that loss-of-function mutations of the tunica intima
endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary …