List of works - Yelena Bykhovskaya

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

scientific article published on 6 October 2011

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Abnormal regulation of extracellular matrix and adhesion molecules in corneas of patients with keratoconus

scientific article published on 01 May 2016

An association between the calpastatin (CAST) gene and keratoconus

scientific article published on May 2013

Association of Genetic Variation With Keratoconus

scientific article published on 19 December 2019

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

scientific article published on 31 October 2011

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain

scientific article published on 18 October 2013

Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations

scientific article published on 01 August 2019

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

scientific article

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.

scientific article published in June 2018

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33

scientific article published on 01 May 2004

Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus

scientific article

Genetics in Keratoconus: where are we?

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

scientific article

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

scientific article

Independent origin of c.57 C > T mutation in MIR184 associated with inherited corneal and lens abnormalities

scientific article published on 6 November 2014

Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region

scientific article

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

scientific article

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

scientific journal article

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

scientific article

Optical coherence tomography combined with videokeratography to differentiate mild keratoconus subtypes

scientific article published on February 2014

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

scientific article published on 18 December 2019

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

scientific article

Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins

scientific article published on 13 May 2009

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)

scientific article

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

scientific article published on 20 May 2016

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

scientific article published in December 2017

Update on the genetics of keratoconus

scientific article published on 13 December 2020

Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies

scientific article published on 28 June 2012

List of works by Yelena Bykhovskaya

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Abnormal regulation of extracellular matrix and adhesion molecules in corneas of patients with keratoconus

An association between the calpastatin (CAST) gene and keratoconus

Association of Genetic Variation With Keratoconus

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain

Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33

Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus

Genetics in Keratoconus: where are we?

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

Independent origin of c.57 C > T mutation in MIR184 associated with inherited corneal and lens abnormalities

Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Optical coherence tomography combined with videokeratography to differentiate mild keratoconus subtypes

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

Update on the genetics of keratoconus

Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies