Cargando…

An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation

Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fathi-Nieto, Sara, Butrón-Ruiz, Rodrigo, García-Soler, Enrique, Hervás-Ontiveros, Ana, Ortiz-Seller, Amparo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905907/ https://www.ncbi.nlm.nih.gov/pubmed/36760954 http://dx.doi.org/10.4103/ojo.ojo_201_21

Ejemplares similares

A 59-year-old female with bilateral painless vision loss
por: Fathi-Nieto, Sara, et al.
Publicado: (2023)

Painful red eye and blurred vision after Crohn's disease debut in a young woman
por: Garcia-Soler, Enrique, et al.
Publicado: (2022)

Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis
por: Bernstein, Anke, et al.
Publicado: (2020)

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
por: Chouery, Eliane, et al.
Publicado: (2023)

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
por: Doddato, Gabriella, et al.
Publicado: (2021)

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
por: Doddato, Gabriella, et al.
Publicado: (2023)

Molecular cloning and characterization of a novel tomato xylosyltransferase specific for gentisic acid
por: Tárraga, Susana, et al.
Publicado: (2010)

First description of the complete human xylosyltransferase-I promoter region
por: Faust, Isabel, et al.
Publicado: (2014)

Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1
por: Briggs, David C., et al.
Publicado: (2018)

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
por: Kausar, Mehran, et al.
Publicado: (2019)

Effect of Xylosyltransferase-I Silencing on Implanting Growth of Salivary Pleomorphic Adenoma
por: Ren, Guiyun, et al.
Publicado: (2018)

Human Xylosyltransferase I—An Important Linker between Acute Senescence and Fibrogenesis
por: Schmidt, Vanessa, et al.
Publicado: (2023)

Xylosyltransferase-I Regulates Glycosaminoglycan Synthesis during the Pathogenic Process of Human Osteoarthritis
por: Venkatesan, Narayanan, et al.
Publicado: (2012)

The Impact of Inflammatory Stimuli on Xylosyltransferase-I Regulation in Primary Human Dermal Fibroblasts
por: Ly, Thanh-Diep, et al.
Publicado: (2022)

The Human Myofibroblast Marker Xylosyltransferase-I: A New Indicator for Macrophage Polarization
por: Ly, Thanh-Diep, et al.
Publicado: (2022)

Achondroplasia Associated with Bilateral Keratoconus
por: Al Mahmood, Ammar M., et al.
Publicado: (2012)

Serum Xylosyltransferase Activity in Diabetic Patients as a Possible Marker of Reduced Proteoglycan Biosynthesis
por: Götting, Christian, et al.
Publicado: (2008)

Xylosyltransferase 2, a protein encoded on chromosome 17q, is involved in HTLV entry
por: Jensen, Stig M R, et al.
Publicado: (2011)

Notch-modifying xylosyltransferase-substrate complexes support an S(N)i-like retaining mechanism
por: Yu, Hongjun, et al.
Publicado: (2015)

Bilateral horizontal Vogt’s striae in keratoconus
por: Güngör, İnci Ulu, et al.
Publicado: (2008)

Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis
por: Zhao, Yunxia, et al.
Publicado: (2021)

Bilateral coexistence of keratoconus and macular corneal dystrophy
por: Al-Hamdan, Ghazi, et al.
Publicado: (2009)

Human xylosyltransferases – mediators of arthrofibrosis? New pathomechanistic insights into arthrofibrotic remodeling after knee replacement therapy
por: Faust, Isabel, et al.
Publicado: (2015)

Bilateral Keratoconus in a Patient with Isolated Foveal Hypoplasia
por: Hassanpour, Kiana, et al.
Publicado: (2020)

Silencing β1,2-xylosyltransferase in Transgenic Tomato Fruits Reveals xylose as Constitutive Component of Ige-Binding Epitopes
por: Paulus, Kathrin Elisabeth, et al.
Publicado: (2011)

Cure Rate Following Rejection in Bilateral Corneal Grafts for Keratoconus
por: Rahimzadeh, Mitra, et al.
Publicado: (2010)

First Characterization of Human Dermal Fibroblasts Showing a Decreased Xylosyltransferase-I Expression Induced by the CRISPR/Cas9 System
por: Fischer, Bastian, et al.
Publicado: (2022)

A Novel 3-O-rhamnoside: 2″-O-xylosyltransferase Responsible for Terminal Modification of Prenylflavonol Glycosides in Epimedium pubescens Maxim.
por: Yao, Yu, et al.
Publicado: (2022)

Xylosyltransferase I mediates the synthesis of proteoglycans with long glycosaminoglycan chains and controls chondrocyte hypertrophy and collagen fibers organization of in the growth plate
por: Taieb, Mahdia, et al.
Publicado: (2023)

Bilateral viral keratitis following corneal collagen crosslinking for progressive keratoconus
por: Sitaula, Sanjeeta, et al.
Publicado: (2019)

Successful Management of Corneal Hydrops and Intrastromal Corneal Ring Segment (ICRS) Migration Following ICRS Implantation for Keratoconus
por: Ontiveros-Holguín, Alejandro, et al.
Publicado: (2022)

Anterior Scleral Thickness Profile in Keratoconus
por: Burguera-Giménez, Neus, et al.
Publicado: (2023)

microRNA-29b mediates fibrotic induction of human xylosyltransferase-I in human dermal fibroblasts via the Sp1 pathway
por: Riedel, Lara, et al.
Publicado: (2018)

Bilateral keratoconus, acute hydrops and unilateral corneal perforation due to Tourette syndrome
por: Palamar, Melis, et al.
Publicado: (2019)

Comparison of bilateral differential characteristics of corneal biomechanics between keratoconus and normal eyes
por: Xian, Yiyong, et al.
Publicado: (2023)

Evaluation of machine learning classifiers in keratoconus detection from orbscan II examinations
por: Souza, Murilo Barreto, et al.
Publicado: (2010)

Keratoconus associated with hereditary sensory and autonomic neuropathy II
por: Shah, Zalak, et al.
Publicado: (2022)

Corneal topography in keratoconus: state of the art
por: Cavas-Martínez, F., et al.
Publicado: (2016)

Screening for MIR184 Mutations in Iranian Patients with Keratoconus
por: Farzadfard, Azad, et al.
Publicado: (2016)

Keratoconus
por: Natarajan, Sundaram
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_4np13eu7jh783d1almjv06q2r0