Results 61 to 70 of about 11,580,920 (364)
Producing amyloid fibrils in vitro: A tool for studying AL amyloidosis
Biochemistry and Biophysics Reports, 2023 Amyloid light-chain (AL) amyloidosis is the second most common form of systemic amyloidosis which is characterized by a high level of mortality and no effective treatment to remove fibril deposition.
Daria V. Sizova +7 more
doaj
Summary of Research: Terminal Complement Inhibitor Ravulizumab in Generalized Myasthenia Gravis
Neurology and Therapy, 2023 This article provides a summary of a previously published paper: Terminal Complement Inhibitor Ravulizumab in Generalized Myasthenia Gravis. The paper reported the results of the CHAMPION-MG trial which investigated the drug ravulizumab in the rare ...
Tuan Vu +9 more
doaj +1 more source
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Genome Medicine, 2022 Rare diseases affect 30 million people in the USA and more than 300–400 million worldwide, often causing chronic illness, disability, and premature death.
S. Marwaha, J. Knowles, E. Ashley
semanticscholar +1 more source
FoxO1 signaling in B cell malignancies and its therapeutic targeting
FEBS Letters, EarlyView.FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac +3 more
wiley +1 more source
A Rare Opportunity in a Rare Disease [PDF]
Advances in Pulmonary Hypertension, 2018 Pulmonary hypertension (PH) is a chronic disease of the pulmonary vasculature, characterized by vessel remodeling that leads to increased pulmonary vascular resistance, right ventricular failure, and ultimately, death. While PH is somewhat simply defined as a mean pulmonary artery pressure (mPAP) on right heart catheterization (RHC) of greater than or ...
openaire +2 more sources
A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries
Frontiers in Public Health, 2020 Background: Despite international initiatives on collaboration within the field of rare diseases, patient access to orphan medicinal products (OMPs) and healthcare services differ greatly between countries.
M. Czech +11 more
semanticscholar +1 more source
Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia
FEBS Letters, EarlyView.This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley +1 more source
Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions
罕见病研究Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj +1 more source
A Rare Lymphoproliferative Disease: Castleman Disease
Turkish Journal of Hematology, 2021 Castleman disease is a rare lymphoproliferative disease also known as angiofollicular lymph node hyperplasia. It is classified as hyaline vascular and plasmacytic variants histologically but characteristics of both types can coexist. Most unicentric cases of the disease are hyaline vascular while most multicentric cases are of the plasmacytic type ...
Gündüz, Eren +3 more
openaire +4 more sources
Autophagy in cancer and protein conformational disorders
FEBS Letters, EarlyView.Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley +1 more source