Project description:Scottish Event Campus, Glasgow, Sunday 4 - Tuesday 6 November 2018 Attendees of the 2018 NCRI Cancer Conference will be able to contact corresponding authors through the Conference App and e-poster platform at the Conference.W: https://conference.ncri.org.uk : E: conference@ncri.org.ukOrganised by the National Cancer Research Institute, which is a partnership of 19 cancer research funders, the NCRI Cancer Conference provides a platform for researchers, clinicians, people affected by cancer and industry representatives to come together to discuss, present and showcase high-quality research. Sponsorship Statement: Publication of this supplement was sponsored by Roche. All content was reviewed and approved by the NCRI Scientific Committee, which held full responsibility for the abstract selection.

| S-EPMC6298386 | biostudies-literature

26th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts*

Project description: Not available

| S-EPMC10563500 | biostudies-literature

Selected abstracts from the 26th Conference of the European Cell Death Organization (ECDO): Cell death in disease — from small molecules to translational medicine

Project description:Sponsorship: Publication of this supplement was sponsored by the Medical Research Council (MRC). All content was reviewed and approved by the European Cell Death Organization (ECDO) Committee, which held full responsibility for the abstract selections.

| S-EPMC6323120 | biostudies-literature

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Project description:Thyroglobulin (Tg) is a vertebrate secretory protein synthesized in the thyrocyte endoplasmic reticulum (ER), where it acquires N-linked glycosylation and conformational maturation (including formation of many disulfide bonds), leading to homodimerization. Its primary functions include iodide storage and thyroid hormonogenesis. Tg consists largely of repeating domains, and many tyrosyl residues in these domains become iodinated to form monoiodo- and diiodotyrosine, whereas only a small portion of Tg structure is dedicated to hormone formation. Interestingly, evolutionary ancestors, dependent upon thyroid hormone for development, synthesize thyroid hormones without the complete Tg protein architecture. Nevertheless, in all vertebrates, Tg follows a strict pattern of region I, II-III, and the cholinesterase-like (ChEL) domain. In vertebrates, Tg first undergoes intracellular transport through the secretory pathway, which requires the assistance of thyrocyte ER chaperones and oxidoreductases, as well as coordination of distinct regions of Tg, to achieve a native conformation. Curiously, regions II-III and ChEL behave as fully independent folding units that could function as successful secretory proteins by themselves. However, the large Tg region I (bearing the primary T4-forming site) is incompetent by itself for intracellular transport, requiring the downstream regions II-III and ChEL to complete its folding. A combination of nonsense mutations, frameshift mutations, splice site mutations, and missense mutations in Tg occurs spontaneously to cause congenital hypothyroidism and thyroidal ER stress. These Tg mutants are unable to achieve a native conformation within the ER, interfering with the efficiency of Tg maturation and export to the thyroid follicle lumen for iodide storage and hormonogenesis.

| S-EPMC4740344 | biostudies-literature

Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.

Project description:BackgroundPhelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and renal anomalies. The Phelan-McDermid Syndrome Foundation (PMSF) was created to improve the quality of life of people affected by PMS worldwide by supporting families, accelerating research, and raising awareness. To further this mission, the PMSF initiated the Phelan-McPosium in 2016 to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational research. Here, we present findings from the 2018 Phelan-McPosium.ResultsThe 2018 Phelan-McPosium was attended by 183 families and 35 researchers and clinicians. Overall, the Early Childhood parents raised the fewest number of concerns, families of Late-Childhood patients raised more concerns around epilepsy and behavioral problems, and Teen and Adult families were primarily concerned about implications of genetic testing, gastrointestinal dysfunction, and regression. All families were concerned with feasibility, safety and importance of clinical trials for PMS.ConclusionsThe concerns raised by families across the sessions varied by age in a manner which may overlap with the emergence of various signs and symptoms through the natural history of PMS. The design of the Phelan-McPosium session has successfully generated thoughtful research questions that led to innovative investigations and clinical trials that are shaping the standard of care for PMS. This is an approach which could be employed by any rare disease group to align translational research efforts with a patient-centered focus.

| S-EPMC7298935 | biostudies-literature

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