Results 211 to 220 of about 13,071 (247)
Some of the next articles are maybe not open access.
Analysis of Cutaneous Somatic Mosaicism
2012Laser Dissection Microscopy (LDM) is a valuable technique to identify the genetic event that underlies cutaneous mosaicism. Isolation of a selected cell population is key to the detection of a somatic mutation. Advantages of the LDM technique are that stored skin biopsies can be analyzed without the necessity of culturing cells.
Anna M G, Pasmooij, Marcel F, Jonkman
openaire +2 more sources
L1 Retrotransposons and Somatic Mosaicism in the Brain
Annual Review of Genetics, 2014Long interspersed element 1 (LINE-1 or L1) retrotransposons have generated one-third of the human genome, and their ongoing mobility is a source of inter- and intraindividual genetic diversity. Although retrotransposition in metazoans has long been considered a germline phenomenon, recent experiments using cultured cells, animal models, and human ...
Richardson, Sandra R. +2 more
openaire +5 more sources
Somatic mosaicism in focal epilepsies
Current Opinion in NeurologyPurpose of review Over the past decade, it has become clear that brain somatic mosaicism is an important contributor to many focal epilepsies. The number of cases and the range of underlying pathologies with somatic mosaicism are rapidly increasing.
Samuel, Gooley +4 more
openaire +2 more sources
Mechanisms and consequences of somatic mosaicism in humans
Nature Reviews Genetics, 2002Somatic mosaicism -- the presence of genetically distinct populations of somatic cells in a given organism -- is frequently masked, but it can also result in major phenotypic changes and reveal the expression of otherwise lethal genetic mutations. Mosaicism can be caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities and the
Hagop, Youssoufian, Reed E, Pyeritz
openaire +2 more sources
Somatic mosaicism in primary immune deficiencies
Current Opinion in Allergy & Clinical Immunology, 2008Spontaneous genetic reversions and second-site mutations resulting in revertant somatic mosaicism are poorly understood phenomena with a seemingly frequent occurrence in primary immunodeficiency diseases. Here we summarize the several cases that have been reported thus far with particular focus on the most recent observations.Revertant cells have been ...
Taizo, Wada, Fabio, Candotti
openaire +2 more sources
Somatic gene mosaicism and expressivity
Trends in Genetics, 2001In their recent article, Gottlieb et al. 1xSomatic mosaicism and variable expressivity. Gottlieb, B. et al. Trends Genet. 2001; 17: 79–82Abstract | Full Text | Full Text PDF | PubMed | Scopus (69)See all References1 discussed the evidence that gene mosaicism has a role in the variable phenotypic expression of genetic diseases.
openaire +2 more sources
Somatic mosaic approaches and the aging brain
Neurobiology of Aging, 2002Elucidating the function of neural pathways in the aging mammalian brain is a formidable task. Mechanisms that underlie aging and pathogenesis in specific brain circuits have been particularly elusive. However, animal models have been exploited in studies related to normative and pathogenic aging. Traditional transgenic animals represent permanent germ-
Kathleen A, Maguire-Zeiss +2 more
openaire +2 more sources
Germline and somatic mosaicism in transgenic mice
Developmental Biology, 1986Analysis of 262 transgenic mouse pedigrees suggests that about 30% of the mice produced by microinjection of plasmids into pronuclei are mosaic in the germline. This implies that in these lines integration of the foreign DNA occurred after the first round of chromosomal DNA replication. In mosaics resulting from delayed integration the transgenic cells
T M, Wilkie +2 more
openaire +2 more sources
Somatic mosaicism for a DMD gene deletion
American Journal of Medical Genetics, 1995AbstractMosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocyto‐chemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis
K, Saito +7 more
openaire +2 more sources
Somatic mosaicism in a patient with Lynch syndrome
American Journal of Medical Genetics Part A, 2009AbstractGenetic mosaicism is the presence of genetically different cell populations within an individual and can be associated with a milder disease phenotype. We describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA).
Chiara, Pastrello +5 more
openaire +2 more sources