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http://dx.doi.org/10.1016/j.mehy.2008.07.015 | DOI Listing |
Sci Adv
January 2025
Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720-3200, USA.
During meiosis, pairing between homologous chromosomes is stabilized by the assembly of the synaptonemal complex (SC). The SC ensures the formation of crossovers between homologous chromosomes and regulates their distribution. However, how the SC regulates crossover formation remains elusive.
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January 2025
Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China.
NF2-related schwannomatosis, previously known as neurofibromatosis type 2, is a genetic disorder characterized by nerve tumors due to gene mutations. Mice with deletion develop schwannomas slowly with low penetrance, hence inconvenient for preclinical studies. Here, we show that NF2, by recruiting E3 ubiquitin ligases β-TrCP1/2, promotes WWC1-3 ubiquitination and degradation.
View Article and Find Full Text PDFInt Ophthalmol
January 2025
Department of Ophthalmology, Basaksehir Cam and Sakura City Hospital, Başakşehir Olympic Boulevard Road, 34480, Başakşehir, Istanbul, Turkey.
Purpose: The study aims to evaluate the clinical characteristics, risk factors, microbiological findings, and visual outcomes, as well as patient and eye survival, of patients diagnosed with endogenous endophthalmitis (EE).
Methods: A retrospective study was conducted on 29 eyes from 21 patients diagnosed with EE.
Results: The mean age of presentation was 56.
Protein Sci
February 2025
Protein Biochemistry and Molecular Modeling Group, OGVFB, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Oculocutaneous albinism is an autosomal recessive inherited disorder associated with mutations in the TYR gene. A single missense change in the tyrosinase (Tyr) could result in partial or complete loss of catalytic activity. The effect of two genetic mutations in the same Tyr as the molecule is less studied.
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January 2025
Department of Ophthalmology, National University Hospital, National University Health System, Singapore, Singapore.
Autoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hematopoietic stem cell transplant (aHSCT) for thymoma-associated AIR after experiencing progressive disease despite receiving periocular and systemic steroids, mycophenolate mofetil, baricitinib, tacrolimus, bortezomib, rituximab, plasmapheresis, and intravenous immunoglobulin. The aHSCT had two stages: (i) peripheral blood stem cell harvest following mobilization with cyclophosphamide and granulocyte colony-stimulating factor, and (ii) conditioning regimen with plasmapheresis, rituximab, cyclophosphamide, and anti-thymocyte globulin high-dose therapy, followed by autologous hematopoietic cell infusion of 5.
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