Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome territories [PDF]
, 1985 In spite of Carl Rabl's (1885) and Theodor Boveri's (1909) early hypothesis that chromosomes occupy discrete territories or domains within the interphase nucleus, evidence in favor pf this hypothesis has been limited and indirect so far in higher plants ...
AB Murray +34 more
core +1 more source
Detection of monosomy 7 in interphase cells of patients with myeloid disorders [PDF]
, 1990 Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis.
Cremer, Thomas +5 more
core +1 more source
Population growth of human Y chromosomes: a study of Y chromosome microsatellites.
Molecular biology and evolution, 1999 We use variation at a set of eight human Y chromosome microsatellite loci to investigate the demographic history of the Y chromosome. Instead of assuming a population of constant size, as in most of the previous work on the Y chromosome, we consider a ...
J. Pritchard +3 more
semanticscholar +1 more source
Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]
, 1992 The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Bigoni, F. +5 more
core +1 more source
Landscape of X chromosome inactivation across human tissues
Nature, 2016 X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes
T. Tukiainen +19 more
semanticscholar +1 more source
YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p [PDF]
, 1996 powerful tool to advance the identi®cation of gene com-Despite rapid progress in the physical characteriza- plexes and of disease genes. In this respect, the analysis tion of murine and human genomes, little molecular in- of human chromosomes 16 and 19 ...
Baer, K +6 more
core +2 more sources
InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
, 2016 Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
core +2 more sources
Making tau amyloid models in vitro: a crucial and underestimated challenge
FEBS Letters, EarlyView.This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
Painting of human chromosomes with probes generated from hybrid cell lines by PCR with Alu and L1 primers [PDF]
, 1990 Specific amplification of human sequences of up to several kb length has recently been accomplished in man-hamster and man-mouse somatic hybrid cell DNA by IRS-PCR (interspersed repetitive sequence — polymerase chain reaction).
Cremer, Thomas +2 more
core +1 more source
Autophagy in cancer and protein conformational disorders
FEBS Letters, EarlyView.Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley +1 more source