Results 141 to 150 of about 10,182 (283)
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto +52 more
wiley +1 more source
Pediatric Blood &Cancer, Volume 72, Issue 7, July 2025.ABSTRACT Background Venetoclax is a potent, oral BCL‐2 inhibitor approved as combination therapy for the treatment of adults with newly diagnosed acute myeloid leukaemia (AML) who are ineligible for intensive chemotherapy. This study evaluated the safety and preliminary efficacy of venetoclax alone or combined with chemotherapy in paediatric and ...
Seth E. Karol +29 more
wiley +1 more source
The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes [PDF]
, 1999 Hongbo R. Luo +3 more
openalex +1 more source
Immunological Reviews, Volume 332, Issue 1, July 2025.ABSTRACT The thymus is a primary lymphoid organ for generating a diverse yet self‐tolerant T cell repertoire. Among the thymic stromal cells that create the thymic microenvironment, thymic epithelial cells (TECs) have received the most attention because of their distinctive functions in the repertoire selection of T cells. Other types of thymic stromal
Ryunosuke Muro, Takeshi Nitta
wiley +1 more source
Developmental expression of the murine spliceosome-associated protein mSAP49 [PDF]
, 1997 Pilar Ruiz‐Lozano +4 more
openalex +1 more source
Advanced Science, Volume 12, Issue 21, June 5, 2025.The splicing factor PTBP3 promotes COX11 exon skipping, allowing gastric cancer organoids to evade cuproptosis. Antisense oligonucleotide drugs targeting PTBP3‐mediated COX11 alternative splicing, in combination with copper ionophores, promote cuproptosis in organoids, thereby providing a therapeutic approach for gastric cancer peritoneal metastasis ...
Yajing Zhou +11 more
wiley +1 more source
Bimolecular exon ligation by the human spliceosome bypasses early 3′ splice site AG recognition and requires NTP hydrolysis [PDF]
, 2000 Karin Anderson, Melissa J. Moore
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TP53 ‐Mutated Myeloid Neoplasms: 2024 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, Volume 100, Issue S4, Page 88-115, June 2025.ABSTRACT Alterations in the tumor suppressor gene TP53 are common in human cancers and are associated with an aggressive nature. Approximately 8%–12% of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) harbor TP53 mutations (TP53 mut) and present immense challenges due to inherent chemoresistance and poor outcomes.
Mithun Vinod Shah +2 more
wiley +1 more source
An Atp-Dependent, Ran-Independent Mechanism for Nuclear Import of the U1a and U2b′′ Spliceosome Proteins [PDF]
, 2000 Martin W. Hetzer, Iain W. Mattaj
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Targeted Therapies in Myelofibrosis: Present Landscape, Ongoing Studies, and Future Perspectives
American Journal of Hematology, Volume 100, Issue S4, Page 30-50, June 2025.ABSTRACT Myelofibrosis (MF) is a myeloproliferative neoplasm that is accompanied by driver JAK2, CALR, or MPL mutations in more than 90% of cases, leading to constitutive activation of the JAK–STAT pathway. MF is a multifaceted disease characterized by trilineage myeloid proliferation with prominent megakaryocyte atypia and bone marrow fibrosis, as ...
Giuseppe G. Loscocco, Paola Guglielmelli
wiley +1 more source