Results 61 to 70 of about 5,512,789 (304)

Alta prevalencia de la mutación CBS p.T191M en pacientes homocistinúricos de Colombia

, 2006
8 páginasHomocystinuria is an autosomal recessive disease most commonly caused by mutationsin cystathionine ß-synthase (CBS). In this study we present the mutation analysis of 36 Colombian individuals from 10 unrelated kindred, with 11 ...
Frank, Nina, Balcells, Susana, Bernal, Jaime, Ugarte, Magdalena, Urreizti, Roser, Bermúdez, Marta, Briceño, Ignacio, Grinberg, Daniel, Merinero, Begoña, Perez Cerdá, Celia, Jan, P. Kraus   +10 more
core   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

The rate of polygenic mutation

Genetical Research, 1988
SummaryBy application of the neutral model of phenotypic evolution, quantitative estimates of the rate of input of genetic variance by polygenic mutation can be extracted from divergence experiments as well as from the response of an inbred base population to selection.
openaire   +2 more sources

Determination of the mutation rate of a retrovirus [PDF]

Journal of Virology, 1988
The mutation rate of Rous sarcoma virus (RSV) was measured. Progeny descended from a single virion were collected after one replication cycle, and seven regions of the genome were analyzed for mutations by denaturing-gradient gel electrophoresis. In all, 65,250 nucleotides were screened, yielding nine mutations, and the RSV mutation rate was calculated
J M, Leider, P, Palese, F I, Smith
openaire   +2 more sources

Strong mutation testing strategies [PDF]

, 1993
Mutation Testing (or Mutation Analysis) is a source code testing technique which analyses code by altering code components. The output from the altered code is compared with output from the original code.
Duncan, Ishbel M.M.
core  

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Assessing mutation accumulation in DNA repair-deficient Listeria monocytogenes: implications for cgMLST cluster thresholds in outbreak analysis

Frontiers in Cellular and Infection Microbiology
BackgroundListeria (L.) monocytogenes is primarily transmitted via contaminated food and can cause listeriosis, an infection often associated with sepsis and meningitis in at-risk individuals. Accurate outbreak detection relies on whole genome sequencing
Astrid Füszl, Ariane Pietzka, Patrick Hyden, Tobias Mösenbacher, Anna Stöger, Marion Blaschitz, Silke Stadlbauer, Petra Hasenberger, Stefanie Schindler, Florian Heger, Sonja Pleininger, Alexander Indra   +11 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Mutation Rates and Fitness Genes in Staphylococcus aureus Treated with the Medicinal Plant Synadenium glaucescens

Applied Sciences
Extracts, fractions and the pure compound epifriedelanol of the medicinal plant Synadenium glaucescens have antibacterial properties. Herbal products are generally considered less prone to resistance development than conventional antimicrobials, as they ...
Zaituni Msengwa, Martin Saxtorph Bojer, Frank Rwegoshora, James Mwesongo, Magesa Mafuru, Faith Philemon Mabiki, Beda John Mwang’onde, Madundo Mkumbukwa Mtambo, Lughano Jeremy Kusiluka, Henrik Christensen, Robinson Hammerthon Mdegela, John Elmerdahl Olsen   +11 more
doaj   +1 more source

Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution

BMC Genomics, 2012
Background Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D.
Guillén Yolanda, Ruiz Alfredo
doaj   +1 more source