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BMC Genomics
December 2024
Section On Molecular Morphogenesis, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Background: Thyroid hormone (T3) has an inhibitory effect on tissue/organ regeneration. It is still elusive how T3 regulates this process. It is well established that the developmental effects of T3 are primarily mediated through transcriptional regulation by thyroid hormone receptors (TRs).
View Article and Find Full Text PDFAlcohol Clin Exp Res (Hoboken)
December 2024
Rutgers Institute for Health, Health Care Policy and Aging Research, Brunswick, New Jersey, USA.
Background: Setting rules about alcohol use and minimizing its availability in the home are known effective parent-level strategies for reducing underage drinking risk. However, parents' restrictions and their perceptions of their child's alcohol access have rarely been considered in combination (e.g.
View Article and Find Full Text PDFJ Ovarian Res
November 2024
National Centre for Cell Science, Pune, 411007, India.
Background: Transcript variants and protein isoforms are central to unique tissue functions and maintenance of homeostasis, in addition to being associated with aberrant states such as cancer, where their crosstalk with the mutated tumor suppressor p53 may contribute to genomic instability and chromosomal rearrangements. We previously identified several novel splice variants in ovarian cancer RNA-sequencing datasets; herein, we aimed to elucidate the biological effects of the Integrin Subunit Beta 8 variant (termed pITGB8-205).
Methods: Resolution of the full-length sequence of pITGB8-205 through rapid amplification of cDNA ends (RACE-PCR).
Cureus
October 2024
Department of Anesthesiology, Uniformed Services University of the Health Sciences, Bethesda, USA.
J Med Genet
November 2024
Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
Background: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant muscular disorder mainly caused by the contraction and hypomethylation of the D4Z4 repeat array in chromosome 4q35. Prenatal diagnosis of FSHD1 is challenging due to the highly repetitive and long genomic structure. In this study, a pregnant woman diagnosed with FSHD1 using optical genome mapping sought assistance for a healthy offspring.
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