Results 31 to 40 of about 160,360 (212)

Non-extensive Trends in the Size Distribution of Coding and Non-coding DNA Sequences in the Human Genome

, 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, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification [PDF]

, 1992
Alu-PCR protocols were optimized for the generation of human DNA probes from yeast strains containing yeast artificial chromosomes (YACs) with human inserts between 100 and 800 kb in size.
Brooks-Wilson, Burke, Christoph Lengauer, Eric D. Green, Green, Kariya, Lengauer, Lengauer, Lichter, Lichter, Lichter, Nelson, Pinkel, Ried, Selleri, Thomas Cremer   +15 more
core   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

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, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 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, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma

FEBS Open Bio, EarlyView.
The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru, Deepak Kumar Mishra, Shiva Senthil Kumar, Hao‐Han Pang, Brendan Devine, Komal Khan, Rachid Drissi   +6 more
wiley   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2.

, 2020
In mitotic cells, establishment of sister chromatid cohesion requires acetylation of the cohesin subunit SMC3 (acSMC3) by ESCO1 and/or ESCO2. Meiotic cohesin plays additional but poorly understood roles in the formation of chromosome axial elements (AEs)
Biswas, U., Eichele, G., Hempel, K., Jessberger, R., Kühnel, A., McNicoll, F., Whelan, G.   +6 more
core   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf, Kwan, Johnson, Lu, Chun-Mei, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F., Zitzelsberger, Horst F.   +6 more
core   +2 more sources

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, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source