Search results for "genètica"
showing 9 items of 159 documents
Viroporins, Examples of the Two-Stage Membrane Protein Folding Model
2015
Viroporins are small, α-helical, hydrophobic virus encoded proteins, engineered to form homo-oligomeric hydrophilic pores in the host membrane. Viroporins participate in multiple steps of the viral life cycle, from entry to budding. As any other membrane protein, viroporins have to find the way to bury their hydrophobic regions into the lipid bilayer. Once within the membrane, the hydrophobic helices of viroporins interact with each other to form higher ordered structures required to correctly perform their porating activities. This two-step process resembles the two-stage model proposed for membrane protein folding by Engelman and Poppot. In this review we use the membrane protein folding …
Cytoplasmic 5′-3′ exonuclease Xrn1p is also a genome-wide transcription factor in yeast
2014
The 5′ to 3′ exoribonuclease Xrn1 is a large protein involved in cytoplasmatic mRNA degradation as a critical component of the major decaysome. Its deletion in the yeast Saccharomyces cerevisiae is not lethal, but it has multiple physiological effects. In a previous study, our group showed that deletion of all tested components of the yeast major decaysome, including XRN1, results in a decrease in the synthetic rate and an increase in half-life of most mRNAs in a compensatory manner. Furthermore, the same study showed that the all tested decaysome components are also nuclear proteins that bind to the 5′ region of a number of genes. In the present work, we show that disruption of Xrn1 activi…
Tècniques d'anàlisi genètica: Tema 6
2014
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València. Tema 6 de 8, de què consta l'assignatura. Presenta l'ús de marcadors de grups de lligament en espècies model, tant en les que tenen l'entrecreuament limitat a un dels dos sexes com en les que els dos sexes presenten entrecreuament.
Retinoblastoma and mosaic 13q deletion: a case report
2021
Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retin…
Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?
2021
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the c…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Tècniques d'anàlisi genètica: Tema 4
2014
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València. Tema 4 de 8, de què consta l'assignatura. Tracta de l'ús de marcadors moleculars per a l'obtenció d'empremtes genètiques, assignació de probabilitats en genètica forense i assignació de probabilitats en proves de paternitat.
Tècniques d'anàlisi genètica: Tema 7
2014
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València. Tema 7 de 8, de què consta l'assignatura. Es presenta les metodologies per detectar lligament en pedigrís humans, l'utilització de la puntuació LOD i els experiments en híbrids de cèl·lules somàtiques d'home-ratolí
CYGD: the Comprehensive Yeast Genome Database.
2005
The comprehensive resource is available under http://mips.gsf.de/genre/proj/yeast/.; International audience; The Comprehensive Yeast Genome Database (CYGD) compiles a comprehensive data resource for information on the cellular functions of the yeast Saccharomyces cerevisiae and related species, chosen as the best understood model organism for eukaryotes. The database serves as a common resource generated by a European consortium, going beyond the provision of sequence information and functional annotations on individual genes and proteins. In addition, it provides information on the physical and functional interactions among proteins as well as other genetic elements. These cellular network…