Primary congenital and developmental glaucomas

CJ Lewis, A Hedberg-Buenz, AP DeLuca… - Human molecular …, 2017 - academic.oup.com
Glaucoma is the leading cause of irreversible blindness worldwide. Although most
glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also …

The ocular neural crest: specification, migration, and then what?

AL Williams, BL Bohnsack - Frontiers in Cell and Developmental …, 2020 - frontiersin.org
During vertebrate embryonic development, a population of dorsal neural tube-derived stem
cells, termed the neural crest (NC), undergo a series of morphogenetic changes and …

CYP1B1 enhances cell proliferation and metastasis through induction of EMT and activation of Wnt/β-catenin signaling via Sp1 upregulation

YJ Kwon, HS Baek, DJ Ye, S Shin, D Kim, YJ Chun - PloS one, 2016 - journals.plos.org
Cytochrome P450 1B1 (CYP1B1) is a major E2 hydroxylase involved in the metabolism of
potential carcinogens. CYP1B1 expression has been reported to be higher in tumors …

Gene therapy for retinal ganglion cell neuroprotection in glaucoma

AM Wilson, A Di Polo - Gene therapy, 2012 - nature.com
Glaucoma is the leading cause of irreversible blindness worldwide. The primary cause of
glaucoma is not known, but several risk factors have been identified, including elevated …

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States

SH Lim, KN Tran-Viet, TL Yanovitch… - American journal of …, 2013 - Elsevier
PURPOSE: To screen primary congenital glaucoma patients in the United States for
sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole …

[HTML][HTML] Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation

KK Abu-Amero, EA Osman, A Mousa, J Wheeler… - Molecular …, 2011 - ncbi.nlm.nih.gov
Purpose Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents
early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of …

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma

N Li, Y Zhou, L Du, M Wei, X Chen - Experimental eye research, 2011 - Elsevier
The objective of this study was to investigate the distribution of mutations in the Cytochrome
P450 1B1 gene (CYP1B1) in patients with primary congenital glaucoma (PCG) among …

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

DN Azmanov, S Dimitrova, L Florez… - European journal of …, 2011 - nature.com
Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive
disorder, which is an important cause of blindness in childhood. The first known gene …

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 …

Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis

S Mookherjee, M Acharya, D Banerjee… - 2012 - journals.plos.org
CYP1B1 has been implicated in primary congenital glaucoma with autosomal recessive
mode of inheritance. Mutations in CYP1B1 have also been reported in primary open angle …