Results 91 to 100 of about 5,512,789 (304)

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

, 2000
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing.
Rosa, A., Passos-Bueno, M. R., Splendore, A., Richieri-Costa, A., Alonso, N., Brunoni, D., Alonso, L. G., Cavalcanti, D. P., Silva, E. O., Carakushanky, G.   +9 more
core   +2 more sources

Muller's ratchet and mutational meltdowns [PDF]

, 1993
We extend our earlier work on the role of deleterious mutations in the extinction of obligately asexual populations. First, we develop analytical models for mutation accumulation that obviate the need for time-consuming computer simulations in certain ...
Lynch, M., Bürger, R., Lynch, Michael, Gabriel, W., Bürger, Reinhard, W. Gabriel, M. Lynch, R. Bürger, Gabriel, Wilfried   +8 more
core   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Mutation rates in mammalian genomes [PDF]

Proceedings of the National Academy of Sciences, 2002
Knowledge of the rate of point mutation is of fundamental importance, because mutations are a vital source of genetic novelty and a significant cause of human diseases. Currently, mutation rate is thought to vary many fold among genes within a genome and among lineages in mammals. We have conducted a computational analysis of 5,669
Subramanian, Sankar, Kumar, Sudhir
openaire   +3 more sources

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
Chiaromonte, Francesca, T. S. Korneliussen, D. Blankenberg, Blankenberg, Daniel, Korneliussen, Thorfinn Sand, I. M. Paul, Paul, IM, Holland, Mitchell M, Su, Marcia Shu-Wei, B. Rebolledo-Jaramillo, Su, MS-W, B. Dickins, A. Nekrutenko, McElhoe, Jennifer A., R. Nielsen, N. Stoler, Nielsen, Rasmus, Nekrutenko, A, Makova, Kateryna D., Stoler, Nicholas, McElhoe, Jennifer A, Korneliussen, Thorfinn S., Chiaromonte, F, Holland, MM, M. S.-W. Su, Nekrutenko, Anton, Nielsen, R, Makova, KD, J. A. McElhoe, Rebolledo-Jaramillo, Boris, Rebolledo-Jaramillo, B, Korneliussen, Thorfinn S, Makova, Kateryna D, M. M. Holland, Holland, Mitchell M., Stoler, N, Blankenberg, D, F. Chiaromonte, Paul, Ian M., Paul, Ian M, K. D. Makova, Korneliussen, TS, McElhoe, JA, Dickins, Benjamin, Dickins, B   +44 more
core   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Substitution of the CD81 Binding Site and β-Sandwich Area in E2 of HCV in Cambodia

Viruses, 2020
The high genetic variability of hepatitis C virus (HCV) is the main obstacle to developing a vaccine. E2 has attracted attention for vaccine development because targeting this protein could potentially overcome issues related to the genetic diversity of ...
Chikako Yamamoto, Shintaro Nagashima, Channarena Chuon, Ko Ko, Son Huy Do, Oline Lim, Sirany Hok, Somana Svay, Junko Matsuo, Keiko Katayama, Kazuaki Takahashi, Junko Tanaka   +11 more
doaj   +1 more source

Evolution of the mutation rate.

, 2018
Ancestral genomic mutation rates are shown as squares, evolved mutation rates at generation 3000 as circles, and 95% confidence intervals of mutation rate estimates are shaded. Each evolved strain's mean change in mutation rate is shown as the percentage
Andreas Wagner (3323), Paul Sniegowski (3768517), Kathleen Sprouffske (82909), José Aguilar-Rodríguez (5151185)   +3 more
core   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source