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Mutation - BioProject

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Last Updated: 04 June 2022

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A novel mtDNA deletion mutation in ND1 is maternally inherited over generations in growth hormone-transgenic amago salmon (Oncorhynchus masou ishikawae)

"We found that homozygous and heterozygous GH-transgenic amago salmon derived from only one female had hypoglycemia in this research. " Nearly 28% of the deletion mutations in the GH homozygous- and female heterozygous-derived mtDNA were discovered in ND1 in ND1. Our findings show that GH transgenesis in amago salmon may cause specific deletion mutations that are maternally inherited over generations and influence energy production.

Source link: https://www.ncbi.nlm.nih.gov/bioproject/844597


GALNS p.P77R variant is a probable Gujarati-Indian founder mutation

"We wanted to investigate the variants present in the GLANS gene among the population of Gujarat by analyzing all exons and exon-intron boundaries of the GALNS gene in patients from 23 unrelated families. " Interestingly, we found a higher than anticipated prevalence of the p. P77R variant in our cohorts than we expected. In cases with the p. P77R variant and 63 ethnicity matched healthy population controls, a 4 SNP haplotype block was observed in patients compared to controls, indicating the p. P77R variant as the founder variant of the Gujarati Indian population. Conclusion: The p. P77R variant of the GLANS gene is expected to be a founder variant among MPS IVA patients of Gujarati-Indian originstry and appeared in the population around 450 years ago. To our knowledge, this is the first variant of the GLANS gene in patients with MPS IVA syndrome.

Source link: https://www.ncbi.nlm.nih.gov/bioproject/840426


Prenatal Diagnosis in a Fetus with X-linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

Stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia are all typical orthopedic disorders characterized by stippled epiphyses, bronchite, and nasomaxillary hypoplasia. WES found a novel mutation of uncertain importance in the ARSE gene in our prenatal screening program. To help us identify the mutation, In silico analysis programs were used to help us analyze the mutation. ".

Source link: https://www.ncbi.nlm.nih.gov/bioproject/840192


An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (RNA-Seq)

"Here, we map a 10 kb microtia locus to the intergenic zone between Roundabout 1 and Roundabout 2 in Latin America, using both transmission disequilibrium tests and association studies in microtia trios and microtia cohorts enrolled in Latin America. " Although alleles of the microtia locus raise the risk of microtia, their penetrance is low. Both populations are expected to have a mutation that arose in a common ancestor before the migration to Eurasia, which was shared by some East Asian people with craniofacial malformations, and we suggest that the high incidence of microtia among Amerindigenous populations reflects population bottlenecking that occurred during migration. ".

Source link: https://www.ncbi.nlm.nih.gov/bioproject/836122


An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (scRNA-Seq)

"Here, we map a 10 kb microtia locus to the intergenic area between Roundabout 1 and Roundabout 2 in Latin America, using both transmission disequilibrium tests and association studies in microtia trios and microtia cohorts enrolled in Latin America. " In addition, we use single nucleo RNA sequencing to determine ROBO1 and ROBO2 expression in the mature human pinna's fibroblasts and chondrocytes. ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------.

Source link: https://www.ncbi.nlm.nih.gov/bioproject/836121

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions