Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L. +3 more
core +8 more sources
Characteristics of Germline and Non-germline Retinoblastomas.
To discuss the clinical characteristics, treatment and outcomes of germline and non-germline retinoblastoma tumors.A retrospective study was performed on retinoblastoma cases from 1979 to 2007. General characteristics of the patients, treatment modalities, histopathological findings and survival were compared in germline versus non-germline cases.We ...
Fariba Ghassemi +6 more
openaire +3 more sources
The DNA in eukaryotes is wrapped around a histone octamer core, together comprising the main subunit of chromatin, the nucleosome. Modifications of the nucleosomal histones in the genome correlate with the ability or inability of chromatin to form higher order structures, that in turn influence gene activity.
Christine E, Schaner, William G, Kelly
openaire +2 more sources
Epigenetics and the germline [PDF]
Abstract Epigenetic processes affect three stages of germline development, namely (1) specification and formation of primordial germ cells and their germline derivatives through lineage-specific epigenetic modifications, in the same manner as other embryonic lineages are formed, (2) a largely genome-wide erasure and re-establishment ...
Cinzia, Allegrucci +3 more
openaire +2 more sources
Nucleotides are required in order to replicate DNA in the developing germline. Here, Chi and colleagues (pp. 307–320) have usedCaernohabditis elegansto identify a GLP-1-dependent checkpoint that senses food (bacterially)-supplied nucleotide levels, arresting reproductive development in the absence of sufficient nucleotide supplies.
Shi, Cheng, Murphy, Coleen T.
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Cell cycle checkpoints in Caenorhabditis elegans: the 14-3-3 gene par-5 is required for germline development and DNA damage response / Checkpoints del ciclo celular en Caenorhabditis elegans: el gen 14-3-3, par-5, es necesario para el desarrollo y respuesta al daño genómico de la línea germinal [PDF]
[eng] 14-3-3 proteins have been extensively studied from yeast to mammals, and are associated with multiple roles ranging from fundamental processes such as cell cycle, apoptosis and stress response to diseases such as neurodegeneration and cancer ...
Aristizábal Corrales, David
core +6 more sources
Sperm and egg production requires a robust stem cell system that balances self-renewal with differentiation. Self-renewal at the expense of differentiation can cause tumorigenesis, whereas differentiation at the expense of self-renewal can cause germ cell depletion and infertility.
Spradling, Allan +3 more
openaire +2 more sources
Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers [PDF]
Evidence is starting to emerge indicating that tumorigenesis in metazoans involves a soma-to-germline transition, which may contribute to the acquisition of neoplastic characteristics.
Feichtinger, J +5 more
core +1 more source
Protecting and Diversifying the Germline [PDF]
Abstract Gametogenesis represents the most dramatic cellular differentiation pathways in both female and male flies. At the genome level, meiosis ensures that diploid germ cells become haploid gametes. At the epigenome level, extensive changes are required to turn on and shut off gene expression in a precise spatiotemporally controlled ...
Gleason, Ryan J. +3 more
openaire +2 more sources
Asymmetric distribution of pl10 and bruno2, new members of a conserved core of early germline determinants in cephalochordates [PDF]
SD is funded through a MASTS PhD studentship (St Andrews, UK). IMLS gratefully acknowledges previous funding from Marie Curie IEF postdoctoral fellowship, FP7 People Programme (Barcelona, Spain); as well as MASTS (Marine Alliance for Science and ...
Jordi Garcia-Fernàndez +13 more
core +1 more source

