Results 101 to 110 of about 6,285,374 (227)
Purpose: the purpose of this study was to describe the baseline characteristics, presenting phenotype and treatment interventions for patients diagnosed with multiple osteochondromas who presented with severe pain symptoms.
Morena Tremosini +8 more
doaj +1 more source
Biting into the Genome to Phenome Map: Developmental Genetic Modularity of Cichlid Fish Dentitions [PDF]
Within vertebrates, teleost fishes provide a rich evolutionary context for studying the mechanisms of dental divergence because of the numerous axes along which their teeth have diverged phenotypically and presumably developmentally.
Fraser, G.J., Hulsey, C.D., Meyer, A.
core +1 more source
Multiple Subungual Osteochondromas: A Case Report
The osteochondroma is a common benign bone tumor, which is only rarely observed in a subungal loca-tion, especially in the fingers. We present a case of multiple subungal osteochondromas, which occurred in the distal phalanges causing nail deformities and pain.
Goo Hyun Baek +2 more
openaire +1 more source
Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer +6 more
wiley +1 more source
Clinical Aspects of Feline Retroviruses: A Review [PDF]
Feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) are retroviruses with global impact on the health of domestic cats. The two viruses differ in their potential to cause disease.
Ackley +100 more
core +3 more sources
Musculoskeletal Diseases: Mechanisms and Therapeutic Advances
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma +17 more
wiley +1 more source
Characterization of microRNA expression profiles in normal and osteoarthritic human chondrocytes [PDF]
[Abstract] Background. Osteoarthritis (OA) is a multifactorial disease characterized by destruction of the articular cartilage due to environmental, mechanical and genetic components.
Blanco García, Francisco J +6 more
core +2 more sources
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe +4 more
wiley +1 more source
Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation [PDF]
Background: Transposable-element mediated chromosomal rearrangements require the involvement of two transposons and two double-strand breaks (DSB) located in close proximity.
Concetta Licciardello +8 more
core +2 more sources

