Cargando…

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis strategy for the pathogenicity analysis of the SUOX gene wi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Du, Peng, Hassan, Reem N., Luo, Hualei, Xie, Jie, Zhu, Yue, Hu, Qiuyue, Yan, Jin, Jiang, Weiying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077164/ https://www.ncbi.nlm.nih.gov/pubmed/33405344 http://dx.doi.org/10.1002/mgg3.1590

Ejemplares similares

Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family
por: Zhao, Jiangang, et al.
Publicado: (2021)

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
por: Li, Jia-Tong, et al.
Publicado: (2022)

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency
por: Owen, Mallory J., et al.
Publicado: (2021)

Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development
por: Drögemüller, Cord, et al.
Publicado: (2010)

Sulfite oxidase deficiency
por: Hundallah, Khalid, et al.
Publicado: (2016)

Prenatal brain disruption in isolated sulfite oxidase deficiency
por: Lee, Hsiu-Fen, et al.
Publicado: (2017)

Isolated sulfite oxidase deficiency: a founder mutation
por: Mhanni, Aizeddin A., et al.
Publicado: (2020)

A compound heterozygote case of isolated sulfite oxidase deficiency
por: Brumaru, Daniel, et al.
Publicado: (2017)

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
por: Misko, Albert L., et al.
Publicado: (2020)

Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
por: Pavel, Andreea M, et al.
Publicado: (2021)

QM/MM study of the reaction mechanism of sulfite oxidase
por: Caldararu, Octav, et al.
Publicado: (2018)

Electrocatalytic sulfite biosensor with human sulfite oxidase co-immobilized with cytochrome c in a polyelectrolyte-containing multilayer
por: Spricigo, Roberto, et al.
Publicado: (2008)

Biofunctionalisation of Polypyrrole Nanowires Array with Sulfite Oxidase Coupled with the Integration of Platinum Nanoparticles for Ultrasensitive Amperometric Detection of Sulfite
por: Hussain, Shahid, et al.
Publicado: (2023)

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review
por: Tian, Maoqiang, et al.
Publicado: (2019)

Sulfite oxidase activity of cytochrome c: Role of hydrogen peroxide
por: Velayutham, Murugesan, et al.
Publicado: (2015)

Molecular mechanism of intramolecular electron transfer in dimeric sulfite oxidase
por: Eh, Malin, et al.
Publicado: (2022)

The History of Animal and Plant Sulfite Oxidase—A Personal View
por: Mendel, Ralf R., et al.
Publicado: (2023)

Overexpression of a Maize Sulfite Oxidase Gene in Tobacco Enhances Tolerance to Sulfite Stress via Sulfite Oxidation and CAT-Mediated H(2)O(2) Scavenging
por: Xia, Zongliang, et al.
Publicado: (2012)

Level of Sulfite Oxidase Activity Affects Sulfur and Carbon Metabolism in Arabidopsis
por: Oshanova, Dinara, et al.
Publicado: (2021)

Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency
por: Li, Philip H, et al.
Publicado: (2020)

Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency
por: Mellis, Anna-Theresa, et al.
Publicado: (2021)

Sulfite Oxidase Activity Is Essential for Normal Sulfur, Nitrogen and Carbon Metabolism in Tomato Leaves
por: Brychkova, Galina, et al.
Publicado: (2015)

Effects of Nicotinamide on Cervical Cancer-Derived Fibroblasts: Evidence for Therapeutic Potential
por: Hassan, Reem N, et al.
Publicado: (2020)

The sulfite oxidase Shopper controls neuronal activity by regulating glutamate homeostasis in Drosophila ensheathing glia
por: Otto, Nils, et al.
Publicado: (2018)

Overexpression of the Maize Sulfite Oxidase Increases Sulfate and GSH Levels and Enhances Drought Tolerance in Transgenic Tobacco
por: Xia, Zongliang, et al.
Publicado: (2018)

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
por: Li, Changxing, et al.
Publicado: (2019)

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information
por: Jonker, Marianne A, et al.
Publicado: (2018)

Free-radical chemistry of sulfite.
por: Neta, P, et al.
Publicado: (1985)

Sulfite Oxidation in Chlorobaculum Tepidum
por: Rodriguez, Jesse, et al.
Publicado: (2011)

Cadmium sulfite hexahydrate revisited
por: Baggio, Sergio, et al.
Publicado: (2008)

Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease
por: Dong, Kexian, et al.
Publicado: (2019)

Obtaining the necessary molybdenum cofactor for sulfite oxidase activity in the nematode Caenorhabditis elegans surprisingly involves a dietary source
por: Oliphant, Kevin D., et al.
Publicado: (2022)

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
por: Fu, Xian‐Guo, et al.
Publicado: (2019)

COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
por: Li, Min, et al.
Publicado: (2021)

New Insights into the Cystine-Sulfite Reaction
por: Zecchini, Matteo, et al.
Publicado: (2019)

Kinetic investigations of sulfite addition to flavanols
por: Bonaldo, Federico, et al.
Publicado: (2020)

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency
por: Hao, Chanjuan, et al.
Publicado: (2018)

Internalization of the Aspergillus nidulans AstA Transporter into Mitochondria Depends on Growth Conditions, and Affects ATP Levels and Sulfite Oxidase Activity
por: Piłsyk, Sebastian, et al.
Publicado: (2020)

(Bi)sulfite Oxidation by Copper,Zinc-Superoxide Dismutase: Sulfite-Derived, Radical-Initiated Protein Radical Formation
por: Ranguelova, Kalina, et al.
Publicado: (2010)

The effect of desulfurization on the postharvest quality and sulfite metabolism in pulp of sulfitated “Feizixiao” Litchi (Litchi chinensis Sonn.) fruits
por: Luo, Tao, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_r3m6octpg17hdu1i2mdn6io19t