Primary congenital and developmental glaucomas

PAX6: 25th anniversary and more to learn

(2017) Ales Cvekl et al.   EXPERIMENTAL EYE RESEARCH

Potential role of CYP1B1 in the development and treatment of metabolic diseases

(2017) Fei Li et al.   PHARMACOLOGY & THERAPEUTICS

Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development

(2017) Yusuke Fujikawa et al.   Scientific Reports

Functional characterization of eight rare missenseCYP1B1variants involved in congenital glaucoma and their association with null genotypes

(2016) Cristina Medina-Trillo et al.   ACTA OPHTHALMOLOGICA

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

(2016) Tomokazu Souma et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

(2016) Jessica N Cooke Bailey et al.   NATURE GENETICS

A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)

(2016) Markus H. Kuehn et al.   PLoS One

Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils

(2014) Tadashi Inoue et al.   HUMAN MOLECULAR GENETICS

A lymphatic defect causes ocular hypertension and glaucoma in mice

(2014) Benjamin R. Thomson et al.   JOURNAL OF CLINICAL INVESTIGATION

Lymphatic regulator PROX1 determines Schlemm’s canal integrity and identity

(2014) Dae-Young Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Schlemm's Canal Is a Unique Vessel with a Combination of Blood Vascular and Lymphatic Phenotypes that Forms by a Novel Developmental Process

(2014) Krishnakumar Kizhatil et al.   PLOS BIOLOGY

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

(2013) Shipra Bhatia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cyp1b1 Mediates Periostin Regulation of Trabecular Meshwork Development by Suppression of Oxidative Stress

(2013) Y. Zhao et al.   MOLECULAR AND CELLULAR BIOLOGY

A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

(2013) Sultan Alzuhairy et al.   OPHTHALMIC GENETICS

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novelFOXC1mutation

(2012) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States

(2012) Sing-Hui Lim et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

(2012) Linda M Reis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aniridia

(2012) Melanie Hingorani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

(2012) Ramona Haji-Seyed-Javadi et al.   HUMAN MUTATION

LTBP2gene analysis in theGLC3C-linked family and 94CYP1B1-negative cases with primary congenital glaucoma

(2012) Roshanak Sharafieh et al.   OPHTHALMIC GENETICS

Null CYP1B1 Genotypes in Primary Congenital and Nondominant Juvenile Glaucoma

(2012) María-Pilar López-Garrido et al.   OPHTHALMOLOGY

Molecular Basis for Involvement of CYP1B1 in MYOC Upregulation and Its Potential Implication in Glaucoma Pathogenesis

(2012) Suddhasil Mookherjee et al.   PLoS One

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

(2011) Ni Li et al.   EXPERIMENTAL EYE RESEARCH

CAUSES OF BLINDNESS AND SEVERE VISUAL IMPAIRMENT IN CHILDREN IN CHILE

(2010) Clare E. Gilbert et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2010) Dimitar N Azmanov et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia and secondary glaucoma

(2010) Julie Désir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous mutation in LTBP2 causes isolated microspherophakia

(2010) Arun Kumar et al.   HUMAN GENETICS

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

(2009) Manir Ali et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional analysis ofCYP1B1mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma

(2009) M-P López-Garrido et al.   CLINICAL GENETICS

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

(2009) Mehrnaz Narooie-Nejad et al.   HUMAN MOLECULAR GENETICS

Primary Open-Angle Glaucoma

(2009) Young H. Kwon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma

(2009) Dharamainder Choudhary et al.   Pharmacogenetics and Genomics

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

(2008) Gabriela Chavarria-Soley et al.   HUMAN MUTATION