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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome in a Boy With Intestinal Obstruction.
Gastroenterol Nurs
November 2024
About the authors: Shengnan Luo, is from Jinglang Senior Expert Department, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.
PLoS One
October 2024
Personalised Medicine Centre, School of Medicine, Ulster University, C-TRIC Building, Altnagelvin Hospital, Derry, Londonderry, Northern Ireland.
Article Synopsis
- Superoxide Dismutase 3 (SOD3) helps reduce oxidative stress in the body by converting superoxide into hydrogen peroxide, which can cause biomolecular damage when not regulated.
- This research used a large dataset (GSE2109) of 2,158 cancer samples to analyze the expression of SOD3 and its correlation with other genes, leading to the identification of genes that are both positively and negatively correlated.
- From the analysis, 12 significant disorders were linked to SOD3, revealing 35 novel genes associated with conditions like Ehlers-Danlos Syndrome and Renal Tubular Dysgenesis, which may help in understanding the role of oxidative stress in these diseases.
Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Four Consecutive Pregnancies with Megacystis.
J Med Ultrasound
September 2023
Center of Prenatal Diagnosis, Centro Hospitalar Vila Nova De Gaia, Espinho, Vila Nova De Gaia, Portugal.
Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disease with a poor prognosis and life expectancy. We present the prenatal diagnosis of four consecutive cases in the same woman. After medical genetics consultation, the couple was advised to resort to medically assisted reproduction techniques with oocyte donation.
View Article and Find Full Text PDFrare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.
bioRxiv
August 2024
Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.
Smooth muscle cell-specific myosin heavy chain, encoded by , is selectively expressed in smooth muscle cells (s). Pathogenic variants in predispose to a number of disorders, including heritable thoracic aortic disease associated with patent ductus arteriosus, visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Rare variants of uncertain significance occur throughout the gene, including p.
View Article and Find Full Text PDFA lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.
Pediatr Surg Int
August 2024
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is defined as a congenital visceral myopathy with genetic mutations. However, the etiology and pathophysiology are not fully understood. We aimed to generate a gene leiomodin-1a (lmod1a) modification technique to establish a zebrafish model of MMIHS.
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