| 1. |
|
|
| 2. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
|
|
| 4. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 5. |
|
|
| 6. |
- Glasbey, JC, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Arosio, B, et al.
(författare)
-
Peripheral blood mononuclear cells as a laboratory to study dementia in the elderly
- 2014
-
Ingår i: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2014, s. 169203-
-
Tidskriftsartikel (refereegranskat)abstract
- The steady and dramatic increase in the incidence of Alzheimer’s disease (AD) and the lack of effective treatments have stimulated the search for strategies to prevent or delay its onset and/or progression. Since the diagnosis of dementia requires a number of established features that are present when the disease is fully developed, but not always in the early stages, the need for a biological marker has proven to be urgent, in terms of both diagnosis and monitoring of AD. AD has been shown to affect peripheral blood mononuclear cells (PBMCs) that are a critical component of the immune system which provide defence against infection. Although studies are continuously supplying additional data that emphasize the central role of inflammation in AD, PBMCs have not been sufficiently investigated in this context. Delineating biochemical alterations in AD blood constituents may prove valuable in identifying accessible footprints that reflect degenerative processes within the Central Nervous System (CNS). In this review, we address the role of biomarkers in AD with a focus on the notion that PBMCs may serve as a peripheral laboratory to find molecular signatures that could aid in differential diagnosis with other forms of dementia and in monitoring of disease progression.
|
|
| 10. |
- Gong, Xiaohong, et al.
(författare)
-
Analysis of X chromosome inactivation in autism spectrum disorders.
- 2008
-
Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 147B:6, s. 830-835
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
|
|
| 11. |
- Israni, Muskan, et al.
(författare)
-
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
- 2023
-
Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 43:1, s. 206-216
-
Tidskriftsartikel (refereegranskat)abstract
- Due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. Effective transition from pediatric to adult services is known to significantly improve adherence to treatment and long-term outcomes. It is currently not known what transition services are available for young people with IEI in Europe.To understand the prevalence and practice of transition services in Europe for young people with IEI, encompassing both primary immunodeficiencies (PID) and systemic autoinflammatory disorders (AID).A survey was generated by the European Reference Network on immunodeficiency, autoinflammatory, and autoimmune diseases Transition Working Group and electronically circulated, through professional networks, to pediatric centers across Europe looking after children with IEI.Seventy-six responses were received from 52 centers, in 45 cities across 17 different countries. All services transitioned patients to adult services, mainly to specialist PID or AID centers, typically transferring up to ten patients to adult care each year. The transition process started at a median age of 16-18years with transfer to the adult center occurring at a median age of 18-20years. 75% of PID and 68% of AID centers held at least one joint appointment with pediatric and adult services prior to the transfer of care. Approximately 75% of PID and AID services reported having a defined transition process, but few centers reported national disease-specific transition guidelines to refer to.Transition services for children with IEI in Europe are available in many countries but lack standardized guidelines to promote best practice.
|
|
| 12. |
|
|
| 13. |
- Rossi, C. A., et al.
(författare)
-
Longitudinal Relationships Between Proteomics and Beta-Cell Dysfunction in Type 2 Diabetes: an IMI Direct Study
- 2023
-
Ingår i: 8th National Congress of Bioengineering, GNB 2023. - : Patron Editore S.r.l..
-
Konferensbidrag (refereegranskat)abstract
- β-cell dysfunction is a crucial factor of glycaemic deterioration in type 2 diabetes (T2D), but the role of circulating proteins in its progression is currently not understood. We studied the potential associations between β-cell glucose sensitivity progression over 3 years and baseline proteomics in a cohort of recently diagnosed T2D patients (N = 653) from the IMI-DIRECT project, through linear regression analysis. We found that forty-six proteins have a significant association to β-cell glucose sensitivity progression. Subsequent functional analysis showed these proteins belong to functional modules linked to insulin secretion and T2D pathophysiology. These findings, along with further investigation in longitudinal studies, may point to novel protein markers and processes of β-cell function deterioration.
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
