Results 51 to 60 of about 245,662 (288)

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel   +3 more
wiley   +1 more source

IRE1α protects against osteoarthritis by regulating progranulin-dependent XBP1 splicing and collagen homeostasis

open access: yesExperimental and Molecular Medicine, 2023
Osteoarthritis (OA) is a full-joint, multifactorial, degenerative and inflammatory disease that seriously affects the quality of life of patients due to its disabling and pain-causing properties.
Li Liang   +17 more
doaj   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

open access: yes, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina   +8 more
core  

Meeting report: a hard look at the state of enamel research. [PDF]

open access: yes, 2017
The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D   +13 more
core   +1 more source

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles   +4 more
wiley   +1 more source

Botpathologie bij apen van de Nieuwe en Oude Wereld [PDF]

open access: yes, 2015
Primates are frequently used lab animals in biomedical research, due to their close relationship to humans. Especially, the genus Callithrix jacchus (common marmoset) and the genus Macaca mulatto (rhesus monkey) are commonly used in scientific research ...
Bakker, J   +7 more
core  

The calcium-sensing receptor as a regulator of cellular fate in normal and pathological conditions [PDF]

open access: yes, 2013
The calcium-sensing receptor (CaSR) belongs to the evolutionarily conserved family of plasma membrane G protein-coupled receptors (GPCRs). Early studies identified an essential role for the CaSR in systemic calcium homeostasis through its ability to ...
Benoit, Yves   +3 more
core   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +1 more source

Risk Factors for Low Bone Mineral Density in Institutionalized Individuals with Developmental Disabilities [PDF]

open access: yesHealth Promotion Perspectives, 2015
Background: Persons with intellectual/developmental disabilities (IDD) are exposed to several factors, which have been determined as risks for osteoporosis. Many of these individuals are non-ambulatory, resulting in lack of weight bearing activity, which
Michael A. Vice   +6 more
doaj   +1 more source

Feasibility and Preliminary Efficacy of Integrative Neuromuscular Training for Childhood Cancer Survivors: A Pilot Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of childhood acute lymphoblastic leukemia (ALL) often exhibit early deficits in muscle and movement competence, which can compromise long‐term health. Integrative neuromuscular training (INT), a multifaceted approach combining fundamental movement activities with strength exercises, may help address these deficits during ...
Anna Maria Markarian   +7 more
wiley   +1 more source

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