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 …
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 …
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
Disorders of the anterior segment of the eye encompass a variety of clinical presentations
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …
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 …
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 …
(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 …
and is characterized by congenital trabecular meshwork and anterior chamber angle …
Primary congenital glaucoma and the involvement of CYP1B1
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 …
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
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 …
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 …
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 …
endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary …