Results 51 to 60 of about 200,238 (297)

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
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., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
core  

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

, 2014
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly?-hydrocephalus(MPPH), have recently been defined on the basis of physical and neuroimaging features.
Cross, Nicholas C. P., Hidalgo-Curtis, Claire, Claire Hidalgo-Curtis (518402), Score, Joannah, Gibson, Jane, Sarah Ennis, Jane Gibson, I Karen Temple, Andrew Collins, Andrew Collins (63814), Nicola Foulds, Paula Aranaz (518400), Foulds, Nicola, Claire Hidalgo-Curtis, I. Karen Temple (518404), Sarah Ennis (435142), David O. Robinson (518403), Temple, I. Karen, William J Tapper, Paula Aranaz, Collins, Andrew, Joannah Score, Nicola Foulds (518399), Joannah Score (518401), Tapper, William J., Robinson, David O., William J. Tapper (518398), Ennis, Sarah, David O Robinson, Aranaz, Paula, Nicholas C P Cross, Jane Gibson (497328), Nicholas C. P. Cross (185184)   +32 more
core   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Somatic mutation profile.

, 2018
Somatic mutation profile.
David Huntsman (11166), Leah M. Prentice (143280), Patrick Franchini (5146577), Basile Tessier-Cloutier (5146580), Anna Lapuk (600731), Kourosh Parsa (5146574), Brandon S. Sheffield (709275), Rosalia Aguirre Hernandez (5146571), Alborz Mazloomian (819566), David F. Schaeffer (709287), Ruth R. Miller (408942), Jeff Knaggs (5146583)   +11 more
core   +1 more source

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

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

Breaking barriers: we need a multidisciplinary approach to tackle cancer drug resistance

BJC Reports
Most cancer-related deaths result from drug-resistant disease(1,2). However, cancer drug resistance is not a primary focus in drug development. Effectively mitigating and treating drug-resistant cancer will require advancements in multiple fields ...
James Ingham, Jia-Ling Ruan, Matthew A. Coelho   +2 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Somatic driver mutations in melanoma [PDF]

Cancer, 2017
Melanoma has one of the highest somatic mutational burdens among solid malignancies. Although the rapid progress in genomic research has contributed immensely to our understanding of the pathogenesis of melanoma, the clinical significance of the vast array of genomic alterations discovered by next‐generation sequencing is far from being fully ...
Bobby Y, Reddy, David M, Miller, Hensin, Tsao   +2 more
openaire   +2 more sources