Results 51 to 60 of about 158,249 (312)

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

open access: yesMolecular 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

Balanced Chromosomal Translocations of Parents in Relation to Spontaneous Abortions [PDF]

open access: yesJournal of Sciences, Islamic Republic of Iran, 2005
The most significant complication of pregnancy is recurrent miscarriage. Numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects ...
doaj  

Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

open access: yesFrontiers in Genetics, 2022
Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31.
Shan Huang   +5 more
doaj   +1 more source

Wheat-barley hybridization – the last forty years [PDF]

open access: yes, 2013
Several useful alien gene transfers have been reported from related species into wheat (Triticum aestivum), but very few publications have dealt with the development of wheat/barley (Hordeum vulgare) introgression lines. An overview is given here of
A Blanco   +125 more
core   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

open access: yesFEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz   +6 more
wiley   +1 more source

Sex chromosomal dimorphisms narrated by X-chromosome translocation in a spiny frog (Quasipaa boulengeri)

open access: yesFrontiers in Zoology, 2018
Background In the general model of sex chromosome evolution for diploid dioecious organisms, the Y (or W) chromosome is derived, while the homogametic sex presumably represents the ancestral condition.
Xiuyun Yuan, Yun Xia, Xiaomao Zeng
doaj   +1 more source

Nuclear tau and its potential role in Alzheimer’s disease [PDF]

open access: yes, 2016
Tau protein, found in both neuronal and non-neuronal cells, forms aggregates in neurons that constitutes one of the hallmarks of Alzheimer’s disease (AD).
Al-Hilaly, Youssra   +2 more
core   +2 more sources

The biogenesis of chromosome translocations [PDF]

open access: yesNature Cell Biology, 2014
Chromosome translocations are catastrophic genomic events and often play key roles in tumorigenesis. Yet the biogenesis of chromosome translocations is remarkably poorly understood. Recent work has delineated several distinct mechanistic steps in the formation of translocations, and it has become apparent that non-random spatial genome organization ...
Vassilis, Roukos, Tom, Misteli
openaire   +2 more sources

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

open access: yesFEBS 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   +6 more
wiley   +1 more source

Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

open access: yesBMC Genomics, 2009
Background Gene rearrangements such as chromosomal translocations have been shown to contribute to cancer development. Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome ...
Pierce Levi CT   +3 more
doaj   +1 more source

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