Results 31 to 40 of about 152,887 (212)
Revista Cubana de Investigaciones Biomédicas, 2001 Las mutaciones del gen de la conexina 26 (locus DFNB1, en el brazo largo del cromosoma 13) dan cuenta de 60 % de las familias con sorderas neurosensoriales no sindrómicas autosómicas recesivas en poblaciones caucásicas.
Ibis<a href="#cargo"> </a> Menéndez +6 more
doaj
, 2005 We study the primary DNA structure of four of the most completely sequenced human chromosomes (including chromosome 19 which is the most dense in coding), using Non-extensive Statistics.
Oikonomou, Th., Provata, A.
core +2 more sources
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Unified theory of human genome reveals a constrained spatial chromosomal arrangement in interphase nuclei [PDF]
, 2015 We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across all pairs of ...
Fatakia, Sarosh N. +2 more
core +2 more sources
Molecular Oncology, EarlyView.A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel +12 more
wiley +1 more source
Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs
FEBS Open Bio, EarlyView.Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner +7 more
wiley +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +15 more
wiley +1 more source
Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]
, 2011 From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill +61 more
core +1 more source
Advanced Healthcare Materials, EarlyView.A robust method to generate functional human iPSC‐derived endothelial cells using inducible ETV2 expression. These cells self‐organize into stable, lumenized microvascular networks within microfluidic chips, surpassing conventional differentiation methods.
Shun Zhang +12 more
wiley +1 more source