Molecular Genetics & Genomic Medicine, 2021 Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene.
Reem N Hassan, Hualei Luo, Peng Du
exaly +2 more sources
Orphanet Journal of Rare Diseases, 2022 Background Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have been established yet.
Yongxiang Jiang +2 more
exaly +2 more sources
Frontiers in Genetics, 2021 AimTo explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort.MethodsHomocysteine and uric acid in plasma and cysteine and total homocysteine in ...
Ying Yang, Fengyu Che
exaly +3 more sources
Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development [PDF]
PLoS Genetics, 2010 Arachnomelia is a monogenic recessive defect of skeletal development in cattle. The causative mutation was previously mapped to a ∼7 Mb interval on chromosome 5. Here we show that array-based sequence capture and massively parallel sequencing technology,
Jens Tetens +2 more
exaly +2 more sources
From Phenotype to Molecules: Unveiling the Genetic and Immunological Bridges Between Autoimmune Diseases and Vitiligo [PDF]
Clinical, Cosmetic and Investigational DermatologyYuan Hu,1,* Shao-Bo Wang,1,* Kun Wang,2 Ming-Jie He2 1Suining Central Hospital, Suining, Sichuan, People’s Republic of China; 2First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, People’s Republic of China*These authors ...
Hu Y, Wang SB, Wang K, He MJ
doaj +2 more sources
Causal Effects of Oxidative Stress on Diabetes Mellitus and Microvascular Complications: Insights Integrating Genome-Wide Mendelian Randomization, DNA Methylation, and Proteome [PDF]
AntioxidantsBackground: Oxidative stress (OS) is involved in the development of diabetes, but the genetic mechanisms are not completely understood. We integrated multi-omics data in order to explore the genetic relations between OS-related genes, diabetes mellitus ...
Kang Liu +6 more
doaj +2 more sources
Emerging roles of hydrogen sulfide-metabolizing enzymes in cancer [PDF]
Redox ReportGasotransmitters play crucial roles in regulating many physiological processes, including cell signaling, cellular proliferation, angiogenesis, mitochondrial function, antioxidant production, nervous system functions and immune responses.
Alyaa Dawoud +9 more
doaj +2 more sources
CAMK1D as a potential therapeutic target for gut microbiota-driven promotion of lung adenocarcinoma development [PDF]
PeerJBackground The gut microbiome is closely associated with malignant tumors; however the specific mechanisms by which it contributes to the development of lung adenocarcinoma remain unclear.
Nuo Yan +10 more
doaj +3 more sources
Identifying genes and traits associated with pre-eclampsia using summary statistics. [PDF]
PLoS ONEThe occurrence and development of pre-eclampsia (PE) is closely related to genetics. However, multi-omics analysis does not provide sufficient evidence to define significant genes.
Wenyan Zhu, Qi Wang, Min Chen
doaj +2 more sources
Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency. [PDF]
PLoS ONEObjectiveIsolated sulfite oxidase deficiency (ISOD; OMIM #272300) is a devastating rare neurometabolic disorder due to biallelic pathogenic variants in the SUOX gene, that typically results in neonatal refractory epilepsy and progressive severe ...
Laura Göde +3 more
doaj +2 more sources