Results 101 to 110 of about 1,069,421 (301)

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. [PDF]

, 2015
PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available
Aldave, Anthony J, Chen, Judy L, Chung, Duk-Won D, Deng, Sophie X, Frausto, Ricardo F, Gee, Jessica A, Gee, Katherine M, Lin, Benjamin R   +7 more
core   +1 more source

Venous Thromboembolism in Pediatric Bone Sarcoma Patients: A 10‐Year, Single‐Institution Experience Encompassing the COVID‐19 Pandemic

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa, Shou Xu, Mark Zobeck, Sarah E. Sartain, Nino Rainusso, Lisa Wang, Nicole Montgomery, Paige Wheaton, Sarah Whittle   +8 more
wiley   +1 more source

Assessing Cognitive Functioning in Children With Brain Tumors: Interaction of Neighborhood Social Determinants of Health and Neurological Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background This study investigated how neighborhood‐level social determinants of health (SDOH), including redlining and neurological risk, interact to influence cognitive outcomes in children treated for brain tumors (CTBT). Methods A retrospective chart review of 161 CTBT aged 5–17 was conducted.
Alannah R. Srsich, Manali Zope, Peter M. Fantozzi, Cassie N. Kline, Iris Paltin, Matthew C. Hocking   +5 more
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Dietary Protein Intake and Peritoneal Protein Losses in Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) patients lose protein in their waste dialysate, potentially increasing their risk for malnutrition. We wished to determine whether there was any association between losses and dietary protein intake (DPI). Methods DPI was assessed from 24‐h dietary recall using Nutrics software.
Haalah Shaaker, Andrew Davenport
wiley   +1 more source

Novel Variant of Tickborne Encephalitis Virus, Russia

Emerging Infectious Diseases, 2007
We isolated a novel strain of tickborne encephalitis virus (TBEV), Glubinnoe/2004, from a patient with a fatal case in Russia. We sequenced the strain, whose landmark features included 57 amino acid substitutions and 5 modified cleavage sites. Phylogenetically, Glubinnoe/2004 is a novel variant that belongs to the Eastern type of TBEV.
Vladimir A. Ternovoi, Elena V. Protopopova, Eugene V. Chausov, Dmitry V. Novikov, Galina N. Leonova, Sergey V. Netesov, Valery B. Loktev   +6 more
openaire   +3 more sources

Effects of the Fluid Replacement Method During Online Hemodiafiltration on the Solute Removal Performance and Biocompatibility Using the Asymmetric Cellulose Triacetate Membrane

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Pre‐dilution online hemodiafiltration (Pre‐HDF) is predominantly used in Japan, whereas post‐dilution online HDF (Post‐HDF) is more common in Europe. An asymmetric cellulose triacetate (ATA) membrane may improve biocompatibility.
Kenji Sakurai, Yoshitaka Kurihara, Fumi Yamauchi, Hiromi Hosoya, Takeshi Saito   +4 more
wiley   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

Molecular Genetics & Genomic Medicine
Background X‐linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID.
Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi   +10 more
doaj   +1 more source