Results 111 to 120 of about 174,515 (174)
LRRK2‐mutant induced pluripotent stem cells (iPSCs) were derived from a patient with Parkinson's disease (PD). Using CRISPR/Cas9–mediated gene editing, the pathogenic LRRK2 mutations were precisely corrected, and isogenic dopaminergic neural progenitor cells (DA‐NPCs) were subsequently generated.
Qing Yan +29 more
wiley +1 more source
Clonal Cytogenetic Evolution in Relapse of Myeloid Hematological Neoplasms After Allogeneic Stem Cell Transplantation. [PDF]
Abdullayev E +8 more
europepmc +1 more source
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker +11 more
wiley +1 more source
A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†. [PDF]
Duke M +5 more
europepmc +1 more source
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima +48 more
wiley +1 more source
Effects of chromatin-lamina attachment on extra-long-range chromatin interactions. [PDF]
Delafrouz P +4 more
europepmc +1 more source
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
Perks of being a wallflower: a high-quality wallflower reference genome reveals its chromosome evolution and flower color variation. [PDF]
Thomas WJW.
europepmc +1 more source
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
SCW: building the whole-genome 3D structures based on extremely sparse single-cell Hi-C data. [PDF]
Zhu H, Liu T, Shrestha B, Wang Z.
europepmc +1 more source

