Publications by authors named "O F Gardner"
Article Synopsis
- * Mutations in PDE4D are responsible for acrodysostosis type 2 (ACRDYS2), leading to intellectual disabilities in 90% of patients and causing physical skeletal abnormalities similar to another condition known as ACRDYS1.
- * Two main hypotheses explain the impact of PDE4D mutations: the 'over-activation hypothesis' suggests that mutations increase PDE4D activity, lowering cAMP levels, while the 'over-compensation hypothesis' argues that
Reconstruction of the outer ear currently requires harvesting of cartilage from the posterior of the auricle or ribs leading to pain and donor site morbidity. An alternative source for auricular reconstruction is in vitro tissue engineered cartilage using stem/progenitor cells. Several candidate cell-types have been studied with tissue-specific auricular cartilage progenitor cells (AuCPC) of particular interest.
View Article and Find Full Text PDFNeuropsychiatric features in a multi-ethnic population with Alzheimer disease and mild cognitive impairment.
Int J Geriatr Psychiatry
September 2023
Background: Alzheimer disease (AD) is more prevalent in African American (AA) and Hispanic White (HIW) compared to Non-Hispanic White (NHW) individuals. Similarly, neuropsychiatric symptoms (NPS) vary by population in AD. This is likely the result of both sociocultural and genetic ancestral differences.
View Article and Find Full Text PDFCardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients.
View Article and Find Full Text PDFBackground Aims: Cell therapies have the potential to improve reconstructive procedures for congenital craniofacial cartilage anomalies such as microtia. Adipose-derived stem cells (ADSCs) and auricular cartilage stem/progenitor cells (CSPCs) are promising candidates for cartilage reconstruction, but their successful use in the clinic will require the development of xeno-free expansion and differentiation protocols that can maximize their capacity for chondrogenesis.
Methods: We assessed the behavior of human ADSCs and CSPCs grown either in qualified fetal bovine serum (FBS) or human platelet lysate (hPL), a xeno-free alternative, in conventional monolayer and 3-dimensional spheroid cultures.