Results 111 to 120 of about 125,088 (254)
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Cell Proliferation, EarlyView.Advancements in the generation of human pluripotent stem cell‐derived natural killer (PSC‐NK) cells have attracted considerable attention within the biomedical research community, offering a promising off‐the‐shelf technique for universal immune therapy.
Qianwen Chen +5 more
wiley +1 more source
A bio‐ecological model for early screening of developmental coordination disorder
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70069 Abstract Aim To develop and externally validate a bio‐ecological model for early screening of developmental coordination disorder (DCD) using maternal and environmental risk factors from electronic health records, aimed at improving early detection in children under 5 years.
Xiaotian Dai +6 more
wiley +1 more source
European Journal of Haematology, EarlyView.ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot +3 more
wiley +1 more source
3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes
The FEBS Journal, EarlyView.Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut +2 more
wiley +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP [PDF]
, 2015 Joshua A. Suhl, Stephen T. Warren
openalex +1 more source
Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome [PDF]
, 2022 Sang Soo Seo +11 more
openalex +1 more source
Haemophilia, EarlyView.ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Perla Bandini +11 more
wiley +1 more source
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova +2 more
wiley +1 more source