Results 161 to 170 of about 1,508,326 (290)

Clinical Associations of Osteoporosis in BCR::ABL1 Negative Myeloproliferative Neoplasms

open access: yesInternational Journal of Endocrinology
Mürüvvet Seda Aydin   +9 more
doaj   +1 more source

The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco   +7 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen   +8 more
wiley   +1 more source

Treatment Options for Focal Cartilage Lesions of the Knee. [PDF]

open access: yesDtsch Arztebl Int
Kappe T   +4 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Stem Cells From Human Exfoliated Deciduous Teeth as a Potent Cell Therapy for Radiation-Induced Osteonecrosis Model. [PDF]

open access: yesJ Orthop Res
Murakami T   +8 more
europepmc   +1 more source

Establishment and characterization of mouse lymph node fibrosis models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu   +8 more
wiley   +1 more source

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