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Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Utilisation of Genetic Testing of Inherited Retinal Diseases in an Australian Public Tertiary Hospital Setting.
Clin Exp Ophthalmol
December 2024
Discipline of Ophthalmology and Visual Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
Eur J Hum Genet
December 2024
National EDS Service, London North West University Healthcare NHS Trust, London, UK.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.
View Article and Find Full Text PDFTechnical note: Y-chromosome short tandem repeat inconsistent typing for loci Y_GATA_H4, DYS481, DYS444, DYS635, DYS437, DYS533 and DYS570.
Int J Legal Med
December 2024
Jiangsu Ankehugen Bio-Technology Co.,Ltd, Wuxi, 214177, China.
Y-chromosome short tandem repeats (Y-STRs) loci have significant research and application value in individual identification, parentage testing, kinship determination and genealogical DNA analysis due to their unique genetic characteristics. Currently, various commercial STR typing kits have used in forensic detection, which greatly promoting the scientific application of STR in criminal investigation and judicial trials. However, due to the complexity and specificity of biological samples, the special STR typing in the sample poses certain difficulties for the construction of DNA databases.
View Article and Find Full Text PDFBee pollen peptides as potent tyrosinase inhibitors with anti-melanogenesis effects in murine b16f10 melanoma cells and zebrafish embryos.
Sci Rep
December 2024
Center of Excellence in Bioconversion and Bioseparation for Platform Chemical Production, Institute of Biotechnology and Genetic Engineering, Chulalongkorn University, 254 Phayathai Road, Pathumwan, Bangkok, 10330, Thailand.
One important functional food ingredient today, valued for its health properties and ability to prevent disease, is bee pollen, which comprises a combination of nectar, pollen from plants, and the secretions of bees. In this research, the tyrosinase (TYR) inhibiting abilities of the peptides derived from bee pollen protein hydrolysates are investigated. Various proteases were utilized to generate these peptides, followed by testing at different concentrations.
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