Results 121 to 130 of about 11,580,920 (364)

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Orphanet Journal of Rare Diseases, 2019
BackgroundRare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases.
S. Ronicke, M. Hirsch, E. Türk, K. Larionov, Daphne Tientcheu, A. D. Wagner   +5 more
semanticscholar   +1 more source

Unveiling unique protein and phosphorylation signatures in lung adenocarcinomas with and without ALK, EGFR, and KRAS genetic alterations

Molecular Oncology, EarlyView.
Proteomic and phosphoproteomic analyses were performed on lung adenocarcinoma (LUAD) tumors with EGFR, KRAS, or EML4–ALK alterations and wild‐type cases. Distinct protein expression and phosphorylation patterns were identified, especially in EGFR‐mutated tumors. Key altered pathways included vesicle transport and RNA splicing.
Fanni Bugyi, Mirjam Balbisi, Simon Sugár, Lóránd Váncza, Eszter Regős, Ilona Kovalszky, Ibolya Laczó, Tünde Harkó, Gábor Kecskeméti, Zoltán Szabó, Judit Moldvay, László Drahos, Lilla Turiák   +12 more
wiley   +1 more source

Beyond digital twins: the role of foundation models in enhancing the interpretability of multiomics modalities in precision medicine

FEBS Open Bio, EarlyView.
This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi, Xin Gao, Takashi Gojobori   +2 more
wiley   +1 more source

EXAMPLES OF SOME SURGICAL DISEASES AND ACCIDENTS OF RARE OCCURRENCE. [PDF]

, 1884
HectorC. Cameron
openalex   +1 more source

The emergence of the cause of rare diseases and rare disease patients’ movement [PDF]

Orphanet Journal of Rare Diseases, 2012
Three features of the cause of rare diseases may be important for the future of the movement. 1. The category of rare diseases was originally created to remedy the problem caused by orphan drugs in the USA. The 1962 Kefauver-Harris amendments to the Food, Drug and Cosmetic Act required the company wanting to market a drug to prove its efficacy. Each
openaire   +2 more sources

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature Genetics, 2022
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, K. Gripp, J. Pantel, Magdalena Danyel, M. A. Mensah, D. Horn, Stanislav Rosnev, N. Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, S. Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, F. Ebstein, E. Krüger, S. Küry, S. Bézieau, A. Schmidt, S. Peters, H. Engels, E. Mangold, M. Kreiss, K. Cremer, C. Perne, R. Betz, Tim Bender, K. Grundmann-Hauser, T. Haack, M. Wagner, T. Brunet, H. Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, G. Lyon, M. Spielmann, C. Schaaf, S. Mundlos, M. Nöthen, P. Krawitz   +46 more
semanticscholar   +1 more source

Protein O‐glycosylation in the Bacteroidota phylum

FEBS Open Bio, EarlyView.
Species of the Bacteroidota phylum exhibit a unique O‐glycosylation system. It modifies noncytoplasmic proteins on a specific amino acid motif with a shared glycan core but a species‐specific outer glycan. A locus of multiple glycosyltransferases responsible for the synthesis of the outer glycan has been identified.
Lonneke Hoffmanns, Dennis Svedberg, André Mateus   +2 more
wiley   +1 more source

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2019
Objectives: Our study attempted to systematically explore the prevalence of extra-cerebellar signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime sleepiness (EDS) and sleep disturbances in a cohort of Chinese patients ...
Xiaoqin Yuan, Ruwei Ou, Yanbing Hou, Xueping Chen, Bei Cao, Xun Hu, Huifang Shang   +6 more
doaj   +1 more source

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

Radiotherapy medical physics in the Philippines: A contemporary overview

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose With cancer ranking as the third leading cause of death in the Philippines and a disparity in healthcare resources across regions, this research aimed to assess the state of radiotherapy medical physics in the country. Methodology The study utilized a comprehensive online survey with 94 structured questions answered by 19 clinics ...
John Paul C. Cabahug, Ramon Carlo Cruzpero, Luis E. Fong de los Santos, Eric C. Ford, Afua A. Yorke   +4 more
wiley   +1 more source