Cargando…

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. We combined genetic and genomic approaches to i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716680/ https://www.ncbi.nlm.nih.gov/pubmed/26749309 http://dx.doi.org/10.1016/j.ajhg.2015.11.018

Ejemplares similares

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
por: Liskova, Petra, et al.
Publicado: (2018)

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing
por: Jedličková, Ivana, et al.
Publicado: (2020)

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients
por: Stadnikova, Andrea, et al.
Publicado: (2017)

Retinal pathology in the PPCD1 mouse
por: Shen, Anna L., et al.
Publicado: (2017)

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
por: Dudakova, Lubica, et al.
Publicado: (2021)

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
por: Soukupova, Jana, et al.
Publicado: (2018)

PPCD: Privacy-preserving clinical decision with cloud support
por: Ma, Hui, et al.
Publicado: (2019)

Transcription Factors OVOL1 and OVOL2 Induce the Mesenchymal to Epithelial Transition in Human Cancer
por: Roca, Hernan, et al.
Publicado: (2013)

Matrix metalloproteinases in recurrent corneal melting associated with primary Sjörgen’s syndrome
por: Brejchova, Kristyna, et al.
Publicado: (2009)

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
por: Evans, Cerys J., et al.
Publicado: (2018)

OVOL guides the epithelial-hybrid-mesenchymal transition
por: Jia, Dongya, et al.
Publicado: (2015)

Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function
por: Zakharevich, Marina, et al.
Publicado: (2017)

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
por: Nosková, Lenka, et al.
Publicado: (2023)

OVOL2 in metastasis prevention in NPC
por: Song, Kyung-A, et al.
Publicado: (2018)

Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression
por: Chung, Duk-Won D., et al.
Publicado: (2016)

The PPCD1 Mouse: Characterization of a Mouse Model for Posterior Polymorphous Corneal Dystrophy and Identification of a Candidate Gene
por: Shen, Anna L., et al.
Publicado: (2010)

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish
por: Idigo, Nwamaka J., et al.
Publicado: (2020)

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synthase deficiency
por: Čížková, Alena, et al.
Publicado: (2008)

OVOL2 sustains postnatal thymic epithelial cell identity
por: Zhong, Xue, et al.
Publicado: (2023)

The Importance of the Interaction of CheD with CheC and the Chemoreceptors Compared to Its Enzymatic Activity during Chemotaxis in Bacillus subtilis
por: Yuan, Wei, et al.
Publicado: (2012)

Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer
por: Zhang, Xiujuan, et al.
Publicado: (2022)

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
por: Bleyer, Anthony J., et al.
Publicado: (2019)

OVOL1 Influences the Determination and Expansion of iPSC Reprogramming Intermediates
por: Kagawa, Harunobu, et al.
Publicado: (2019)

Comprehensive Analysis of the Expression, Prognosis, and Biological Significance of OVOLs in Breast Cancer
por: Chen, Jingsheng, et al.
Publicado: (2021)

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
por: Yousaf, Khazeema, et al.
Publicado: (2023)

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement
por: Buglioni, Alessia, et al.
Publicado: (2021)

12-year follow-up of the first endothelial keratoplasty without Descemet stripping in a 3-month newborn with Congenital Hereditary Endothelial Dystrophy (CHED)
por: Bellucci, Carlo, et al.
Publicado: (2023)

Ovol2, a zinc finger transcription factor, is dispensable for spermatogenesis in mice
por: Zhang, Jin, et al.
Publicado: (2019)

The Transcription Factor OVOL2 Represses ID2 and Drives Differentiation of Trophoblast Stem Cells and Placental Development in Mice
por: Jeyarajah, Mariyan J., et al.
Publicado: (2020)

Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study
por: Pontikos, Nikolas, et al.
Publicado: (2019)

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1
por: Chung, Doug D., et al.
Publicado: (2017)

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
por: Liskova, Petra, et al.
Publicado: (2012)

Ovol2 induces mesenchymal–epithelial transition via targeting ZEB1 in osteosarcoma
por: Liu, Jijun, et al.
Publicado: (2018)

Aryl hydrocarbon receptor activation restores filaggrin expression via OVOL1 in atopic dermatitis
por: Tsuji, Gaku, et al.
Publicado: (2017)

OVOL2 impairs RHO GTPase signaling to restrain mitosis and aggressiveness of Anaplastic Thyroid Cancer
por: Gugnoni, Mila, et al.
Publicado: (2022)

Ex vivo expansion and characterization of human corneal endothelium for transplantation: a review
por: Smeringaiova, Ingrida, et al.
Publicado: (2021)

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
por: Gast, Christine, et al.
Publicado: (2018)

A bioinformatics approach reveals novel interactions of the OVOL transcription factors in the regulation of epithelial – mesenchymal cell reprogramming and cancer progression
por: Roca, Hernan, et al.
Publicado: (2014)

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
por: Skalicka, Pavlina, et al.
Publicado: (2022)

Ovol1 regulates the growth arrest of embryonic epidermal progenitor cells and represses c-myc transcription
por: Nair, Mahalakshmi, et al.
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_6fqsk4j6cgnlj8e5uvk1g52mml