We have constructed a physical and transcript map of 5q31.3-qter. The contig comprises 173 yeast artificial chromosomes (YACs) to which 159 sequence tagged sites (STSs), 47 expressed sequence tags (ESTs), and 32 genes were assigned. Previously published partial YAC contigs of the region have been refined and integrated. Given that the region contains 25 Mbp of DNA the average spacing of markers is approximately 100 kb.
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http://dx.doi.org/10.1038/sj.ejhg.5200188 | DOI Listing |
Aging Cell
January 2025
Division of Endocrinology, Mayo Clinic, Rochester, Minnesota, USA.
There is an increasing need for biomarkers of senescent cell burden to facilitate the selection of participants for clinical trials. p16 is encoded by the CDKN2A locus, which produces five variant transcripts in humans, two of which encode homologous p16 proteins: p16, encoded by p16_variant 1, and p16ɣ, encoded by p16_variant 5. While distinct quantitative polymerase chain reaction primers can be designed for p16_variant 5, primers for p16_variant 1 also measure p16_variant 5 (p16_variant 1 + 5).
View Article and Find Full Text PDFJ Patient Exp
January 2025
Division of Health Science, Child Healthcare and Genetic Science Laboratory, Osaka University Graduate School of Medicine, Suita, Japan.
The challenges faced by patients with Krabbe disease remain unelucidated. This study aimed to identify these challenges and facilitate the development of methods for assessing the quality of life. This qualitative descriptive study used in-person or online semistructured interviews from March to December 2022 using a qualitative content analysis approach.
View Article and Find Full Text PDFPhysiol Rep
January 2025
United States Department of Agriculture, Agricultural Research Service, Grand Forks Human Nutrition Research Center, Grand Forks, North Dakota, USA.
Exercise counters many adverse health effects of consuming a high-fat diet (HFD). However, complex molecular changes that occur in skeletal muscle in response to exercising while consuming a HFD are not yet known. We investigated the interplay between diverse exercise regimes and HFD consumption on the adaptation of skeletal muscle transcriptome.
View Article and Find Full Text PDFSubcell Biochem
January 2025
Faculty of Medicine and Faculty of Life Sciences, Institute of Biomedical Sciences (ICB), Universidad Andres Bello, Santiago, Chile.
In animals, memory formation and recall are essential for their survival and for adaptations to a complex and often dynamically changing environment. During memory formation, experiences prompt the activation of a selected and sparse population of cells (engram cells) that undergo persistent physical and/or chemical changes allowing long-term memory formation, which can last for decades. Over the past few decades, important progress has been made on elucidating signaling mechanisms by which synaptic transmission leads to the induction of activity-dependent gene regulation programs during the different phases of learning (acquisition, consolidation, and recall).
View Article and Find Full Text PDFBMJ Open
January 2025
Cardiac Intensive Care Unit, Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
Introduction: Pulmonary arterial hypertension (PAH) is a complex condition affecting quality of life, characterised by high blood pressure in the pulmonary arteries leading to heart strain. PAH's impact extends beyond physical symptoms, influencing emotional and social well-being, particularly in women where it affects sexual health and pregnancy outcomes. Despite medical advancements, the disease's full impact on women's lives is under-researched, especially regarding sexual experiences and health.
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