Results 61 to 70 of about 269 (206)
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers
Orphanet Journal of Rare DiseasesOsteosarcoma is a highly malignant bone tumor, and a subset of cases is closely associated with hereditary syndromes. These syndrome-related osteosarcomas exhibit unique clinical features, molecular mechanisms, and therapeutic challenges.
Yang Zhou +5 more
doaj +1 more source
Engineering compact Physalis peruviana (goldenberry) to promote its potential as a global crop
PLANTS, PEOPLE, PLANET, EarlyView.Goldenberry (Physalis peruviana) produces sweet, nutritionally rich berries, yet like many minor crops, is cultivated in limited geographical regions and has not been a focus of breeding programs for trait enhancement. Leveraging knowledge of plant architecture‐related traits from related species, we used CRISPR/Cas9‐mediated gene editing to generate a
Miguel Santo Domingo +8 more
wiley +1 more source
Case Reports in Immunology, 2019 We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma ...
Jean-François Viallard +2 more
doaj +1 more source
PLANTS, PEOPLE, PLANET, EarlyView.Many plant species worldwide are struggling to regenerate due to the ongoing effects of climate change. These effects appear to be further exacerbated by the loss of keystone megafauna, which were important seed dispersers. By identifying the traits commonly seen in seeds spread by modern elephants, it is possible to predict which species likely ...
Andrew J. Tighe
wiley +1 more source
Türk Biyokimya DergisiBLM, a member of the RecQ helicase family, plays an important role in DNA repair, and its biallelic mutations cause autosomal recessive Bloom syndrome, a disease characterized by elevated levels of sister chromatid exchange (SCE) in affected individuals ...
Yararbas Kanay +6 more
doaj +1 more source
PLANTS, PEOPLE, PLANET, EarlyView.Tiny, leafless fairy lanterns are easily overlooked on the forest floor. Thismia abei, endemic to Japan, persists in small, unstable populations and is listed nationally as Critically Endangered. Our recent work has revealed another, less obvious form of obscurity.
Kenji Suetsugu +2 more
wiley +1 more source
Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study
Annals of Indian Academy of Neurology, 2004 We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and ...
Ashraff V V +5 more
doaj
, 2023 Bloom syndrome is an autosomal recessive disorder with a higher prevalence among Ashkenazi Jews and the Japanese due to a founder effect. Caused by mutations in the {BLM} gene, a multifunctional ATP-dependent DNA helicase, it leads to genomic instability and defective DNA repair mechanisms, resulting in a significantly increased frequency of sister ...
openaire +1 more source
Intercropping mitigates incidence of the oilseed rape insect pest complex
Pest Management Science, EarlyView.Intercropping reduces the incidence of the oilseed rape insect pest complex with a significant impact of the direct visual and physical disruption provided by the companion plant. Abstract BACKGROUND Oilseed rape (OSR, Brassica napus) is a major crop requiring numerous phytosanitary treatments.
Laurie Magnin +3 more
wiley +1 more source
PROBING GENOME MAINTENANCE FUNCTIONS OF HUMAN RECQ1
Computational and Structural Biotechnology Journal, 2013 The RecQ helicases are a highly conserved family of DNA-unwinding enzymes that play key roles in protecting the genome stability in all kingdoms of life.'Human RecQ homologs include RECQ1, BLM, WRN, RECQ4, and RECQ5β.'Although the individual RecQ-related
Furqan Sami, Sudha Sharma
doaj +1 more source