In the present study, allele frequencies and forensic parameters of four ethnic groups (Brahmin, Khatri, Jat Sikh, and Scheduled Caste) of Punjab, India, at 10 Alu insertions of X chromosome were calculated. Six Alu markers were observed to be highly polymorphic with no significant deviations from Hardy-Weinberg equilibrium and no linkage disequilibrium present in any marker. Multidimensional plot showed higher genetic affinity of studied populations with Asian populations. Overall, the tested markers were reliable and were found suitable in human forensics and population genetic studies.
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http://dx.doi.org/10.1007/s00414-019-02238-3 | DOI Listing |
BMJ Case Rep
December 2024
Facultad de Medicina, Universidad Anahuac Cancun, Cancún, Quintana Roo, Mexico
This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient's medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas.
View Article and Find Full Text PDFJ Mol Med (Berl)
December 2024
Department of Genetics and Bioengineering, Alanya Alaaddin Keykubat University, Antalya, 07425, Turkey.
The tumor microenvironment, which is the tailored physiological milieu of heterogeneous cancer cell populations surrounded by stromal and immune cells as well as extracellular matrix components, is a leading modulator of critical cancer hallmarks and one of the most significant prognostic indicators in breast cancer. In the last few decades, with the discovery of the interactions of ncRNAs with diverse cellular molecules, considerable emphasis has been devoted to understanding their direct and indirect roles in specific functions in breast cancer. Collectively, all of these have revealed that the competitive action of protein-coding RNAs and ncRNAs such as circRNAs and lncRNAs, which have a shared affinity for miRNAs, play a vital role in the molecular regulation of breast cancer.
View Article and Find Full Text PDFCommun Biol
November 2024
Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Prague, Czechia.
Homeostasis of cellular membranes is maintained by fine-tuning their lipid composition. Yeast lipid transporter Osh6, belonging to the oxysterol-binding protein-related proteins family, was found to participate in the transport of phosphatidylserine (PS). PS synthesized in the endoplasmic reticulum is delivered to the plasma membrane, where it is exchanged for phosphatidylinositol 4-phosphate (PI4P).
View Article and Find Full Text PDFNat Aging
December 2024
Genetics, Genomics and Development Graduate Program, Cornell University, Ithaca, NY, USA.
In aging, skeletal muscle regeneration declines due to alterations in both myogenic and non-myogenic cells and their interactions. This regenerative dysfunction is not understood comprehensively or with high spatiotemporal resolution. We collected an integrated atlas of 273,923 single-cell transcriptomes and high-resolution spatial transcriptomic maps from muscles of young, old and geriatric mice (~5, 20 and 26 months old) at multiple time points following myotoxin injury.
View Article and Find Full Text PDFGenome Biol
November 2024
Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, Rome, Italy.
Background: The Italic Iron Age is characterized by the presence of various ethnic groups partially examined from a genomic perspective. To explore the evolution of Iron Age Italic populations and the genetic impact of Romanization, we focus on the Picenes, one of the most fascinating pre-Roman civilizations, who flourished on the Middle Adriatic side of Central Italy between the 9 and the 3 century BCE, until the Roman colonization.
Results: More than 50 samples are reported, spanning more than 1000 years of history from the Iron Age to Late Antiquity.
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