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http://dx.doi.org/10.7554/eLife.35768 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.
Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
The Affiliated Lihuili Hospital, Ningbo University, Ningbo, China.
Background: To determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations.
Methods: We searched PubMed, Web of Science, Cochrane Library, and EMBASE for studies of patients with genetic mutations treated with 4-PB or SPB. All data were tested using RStudio software.
Exp Biol Med (Maywood)
December 2024
Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
[This corrects the article DOI: 10.1177/15353702231182214.].
View Article and Find Full Text PDFBrain Behav
January 2025
Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, Izmir, Türkiye.
Purpose: Genetic studies on the transgender and gender diverse (TGD) community have started to appear in the literature. However, there are limited studies on how genetic data will impact attitudes and perspectives toward TGD individuals. In this study, we investigated the impact of genetic alterations on physicians' attitudes toward TGD individuals and on physicians' decisions concerning gender confirmation surgery (GCS).
View Article and Find Full Text PDFCommun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
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