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http://dx.doi.org/10.1007/s00122-023-04382-2 | DOI Listing |
Front Med (Lausanne)
August 2025
Department of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, China.
[This corrects the article DOI: 10.3389/fmed.2025.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
September 2025
Molecular Biology Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
X-linked agammaglobulinemia (XLA) is a rare inborn error of immunity caused by loss-of-function mutations in the gene encoding Bruton's tyrosine kinase (BTK). XLA patients lack mature B cells and have negligible antibody levels, leaving them susceptible to recurrent bacterial and chronic viral infections. Autologous hematopoietic stem cell gene therapy with gene-corrected HSC may serve as a promising treatment of XLA; this therapy would provide a one-time cure and would replace lifelong immunoglobulin replacement therapy.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
September 2025
Department of Pharmacology, Wrocław Medical University, Wrocław, Poland.
Hypergonadotropic hypogonadism is usually caused by the impairment of the structure and function of the gonads, but there are cases caused by reduced stimulation by the follicle-stimulating hormone (FSH) as a result of abnormal variants of genes encoding the follicle-stimulating hormone or its receptor (FSHR). We present the case of an elite athlete with the c.2039A>G variant in one allele of the FSHR gene resulting in hypergonadotropic hypogonadism, low testicular volume, and reduced semen parameters, placing particular emphasis on the diagnostic process and the importance of correct diagnosis in the context of possible treatment with gonadotropins, which can significantly improve fertility, increase testosterone levels, and, in the case of athletes, obtain approval from the anti-doping organization for treatment that increases testosterone levels.
View Article and Find Full Text PDFBiol Open
September 2025
Departments of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, R3T 2N2, Canada.
The GM2 gangliosidoses are lysosomal storage disorders exhibiting a spectrum of neurological phenotypes ranging from childhood death to debilitating adult-onset neurological impairment. To date, no mouse model harbouring a specific human mutation causing GM2 gangliosidosis has been created. We used CRISPR/Cas9 to generate knockin (KI) mice with the common adult-onset Hexa Gly269Ser variant as well as knockout (KO) mice with Hexa mutations expected to cause complete HexA deficiency.
View Article and Find Full Text PDFCurr Alzheimer Res
September 2025
Department of Neurology, the Wuxi No. 2 People's Hospital, Jiangnan University Medical Center, Wuxi, Jiangsu Province, China.
Introduction: The complement receptor 1 (CR1) gene is identified as the one closely associated with Alzheimer's disease (AD). However, there has been no exploration of the imaging alterations associated with the CR1 gene in AD patients of the Han population. The purpose of this study is to investigate the association between the rs6656401 mutation and neuroimaging variations in Han AD patients.
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