Results 71 to 80 of about 1,757,426 (287)

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

Accumulating Heterozygous Deleterious Mutations in Conserved Soybean Germplasm over Successive Regenerations

Plants
More than 5.9 million plant germplasm accessions currently conserved in over 850 national genebanks worldwide will accumulate deleterious mutations over long-term conservation.
Yong-Bi Fu, Carolee Horbach
doaj   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients

Molecular Cancer, 2008
Background Aberrant accumulation of β-catenin plays an important role in a variety of human neoplasms. We recently reported accumulation of β-catenin in parathyroid adenomas from patients with primary hyperparathyroidism (pHPT).
Åkerström Göran, Lindberg Daniel, Björklund Peyman, Westin Gunnar   +3 more
doaj   +1 more source

Mutations beget more mutations – The baseline mutation rate and runaway accumulation [PDF]

, 2019
Abstract There is a sizable literature on mutation rate evolution (Drake 1991; Makova and Li 2002; Lynch 2011; Scally and Durbin 2012; Sung, et al. 2012) but few studies incorporate the recent genomic data from somatic tissues that suggest the operation of mutators.
Ruan, Yongsen, Chen, Bingjie, Chen, Qingjian, Wen, Haijun, Wu, Chung-I   +4 more
openaire   +1 more source

On the accumulation of deleterious mutations during range expansions [PDF]

Molecular Ecology, 2013
AbstractWe investigate the effect of spatial range expansions on the evolution of fitness when beneficial and deleterious mutations cosegregate. We perform individual‐based simulations of 1D and 2D range expansions and complement them with analytical approximations for the evolution of mean fitness at the edge of the expansion. We find that deleterious
Peischl Stephan, Dupanloup Isabelle, Kirkpatrick Mark, Excoffier laurent   +3 more
openaire   +4 more sources

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Glioblastoma signature in the DNA of blood-derived cells.

PLoS ONE, 2021
Current approach for the detection of cancer is based on identifying genetic mutations typical to tumor cells. This approach is effective only when cancer has already emerged, however, it might be in a stage too advanced for effective treatment.
Siddharth Jain, Bijan Mazaheri, Netanel Raviv, Jehoshua Bruck   +3 more
doaj   +1 more source

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