List of works - Elena V Semina

8q21.11 microdeletion in two patients with syndromic peters anomaly.

scientific article published on 5 July 2016

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1

scientific article

A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome

scientific article

A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome

scientific article

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

scientific article published in March 2004

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

scientific article published on 17 October 2016

Analysis of FOXD3 sequence variation in human ocular disease ⬇️

scientific article published on June 27, 2012

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

scientific article

Application of genetic approaches to ocular disease

scientific article published on August 2006

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

scientific article published on February 22, 2011

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

scientific article

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

scientific article published on 03 June 2015

Current molecular understanding of Axenfeld-Rieger syndrome

scientific article

Differential regulation of gene expression by PITX2 isoforms

scientific article (publication date: 12 July 2002)

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

scientific article published on 27 June 2015

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

scientific article

Exclusion of PITX2 mutations as a major cause of CHARGE association

scientific article published in July 2002

FOXE3 plays a significant role in autosomal recessive microphthalmia

scientific article

Functional analysis of human mutations in homeodomain transcription factor PITX3

scientific article published in 2007

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

scientific article published on 19 September 2017

Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons

scientific article published in March 2004

Genetic loci for pathological myopia are not associated with juvenile myopia

scientific article published in November 2002

Genetics of anterior segment dysgenesis disorders ⬇️

scientific article published on September 1, 2011

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree

scientific article published on 19 July 2017

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

scientific article

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

scientific article

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia ⬇️

scientific article published on August 22, 2010

Lens extrusion from Laminin alpha 1 mutant zebrafish

scientific article published on 15 January 2014

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens ⬇️

scientific article published on June 17, 2011

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

scientific article

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish

scientific article published on 12 July 2006

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma

scientific article

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

scientific article published in December 2009

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

scientific article published on 20 February 2014

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

scientific article published on July 2015

PITX2 Is Involved in Stress Response in Cultured Human Trabecular Meshwork Cells through Regulation of SLC13A3 ⬇️

scientific article published on September 29, 2011

PITX2 and FOXC1 spectrum of mutations in ocular syndromes ⬇️

scientific article published on May 9, 2012

PITX2 deficiency and associated human disease: insights from the zebrafish model

scientific article published in March 2018

Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2 ⬇️

scientific article published on March 18, 2011

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein

scientific article

Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice

scientific article

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells

scientific article

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

scientific article

VSX2 mutations in autosomal recessive microphthalmia ⬇️

scientific article published on September 28, 2011

Whole exome sequence analysis of Peters anomaly

scientific article

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

scientific article published on 19 March 2013

cis-Cyclopropylamines as mechanism-based inhibitors of monoamine oxidases

scientific article

laminin alpha 1 gene is essential for normal lens development in zebrafish

scientific article

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish ⬇️

scientific article published on January 27, 2012

List of works by Elena V Semina

8q21.11 microdeletion in two patients with syndromic peters anomaly.

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1

A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome

A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Analysis of FOXD3 sequence variation in human ocular disease ⬇️

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

Application of genetic approaches to ocular disease

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Current molecular understanding of Axenfeld-Rieger syndrome

Differential regulation of gene expression by PITX2 isoforms

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Exclusion of PITX2 mutations as a major cause of CHARGE association

FOXE3 plays a significant role in autosomal recessive microphthalmia

Functional analysis of human mutations in homeodomain transcription factor PITX3

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons

Genetic loci for pathological myopia are not associated with juvenile myopia

Genetics of anterior segment dysgenesis disorders ⬇️

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia ⬇️

Lens extrusion from Laminin alpha 1 mutant zebrafish

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens ⬇️

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

PITX2 Is Involved in Stress Response in Cultured Human Trabecular Meshwork Cells through Regulation of SLC13A3 ⬇️

PITX2 and FOXC1 spectrum of mutations in ocular syndromes ⬇️

PITX2 deficiency and associated human disease: insights from the zebrafish model

Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2 ⬇️

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein

Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

VSX2 mutations in autosomal recessive microphthalmia ⬇️

Whole exome sequence analysis of Peters anomaly

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

cis-Cyclopropylamines as mechanism-based inhibitors of monoamine oxidases

laminin alpha 1 gene is essential for normal lens development in zebrafish

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish ⬇️