Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1056/NEJMc2313119 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Involvement of impaired phosphate production and aberrant extracellular ATP signaling in the pathogenesis of hypophosphatasia: Analysis of ALPL-Knockout human iPS cell models.
Bone
September 2025
Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka, 594-1101, Japan. Electronic address:
Hypophosphatasia (HPP) is caused by inactivating variants of ALPL, the gene encoding tissue non-specific alkaline phosphatase (TNSALP). In order to deepen our understanding of the pathogenic mechanisms of HPP, we herein generated ALPL-knockout (KO) human induced pluripotent stem (iPS) cells by applying CRISPR/Cas9-mediated gene deletion to an iPS clone derived from a healthy subject. We analyzed two ALPL-KO clones, one ALPL-hetero KO clone, and a control clone isogenic except for ALPL.
View Article and Find Full Text PDFDiacylglycerol kinase gene Dgkh deficiency disrupts testicular lipid balance in male mice without affecting fertility.
Reproduction
October 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Nanjing, China.
In Brief: Lipid homeostasis is vital for maintaining testicular function and male fertility, but the specific contributions of lipid-regulating enzymes remain unclear. This study shows that DGKη, although highly expressed in the testis, is not essential for spermatogenesis but modulates testicular lipid metabolism in response to dietary conditions.
Abstract: Diacylglycerol kinase eta (DGKη), encoded by the Dgkh gene, catalyzes the phosphorylation of diacylglycerol to phosphatidic acid, both of which are key lipid second messengers.
Generation and phenotypic characterization of a sigma-1 receptor knockout rat.
Life Sci
September 2025
Department of Pharmacology, Faculty of Medicine, University of Granada, 18016, Granada, Spain; Institute of Neuroscience, Biomedical Research Center, University of Granada, Armilla, 18100, Granada, Spain; Biosanitary Research Institute ibs.GRANADA, 18012, Granada, Spain. Electronic address: fnieto@u
The sigma-1 receptor (σ1R) is a chaperone involved in multiple physiological and pathological processes, including pain modulation, neuroprotection, and neurodegenerative diseases. Despite its functional significance, its precise roles remain unclear due to the lack of suitable models for detailed mechanistic studies. In this work, we describe the generation and phenotypic characterization of a novel σ1R knockout (σ1R KO) rat model.
View Article and Find Full Text PDFHematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia.
Mol 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 PDFGeneration of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.
Biol 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 PDF