Results 21 to 30 of about 7,599,301 (308)

Comprehensive Analysis of METTLs (METTL1/13/18/21A/23/25/2A/2B/5/6/9) and Associated mRNA Risk Signature in Hepatocellular Carcinoma

Analytical Cellular Pathology, 2023
Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang, Shangshang Hu, Junjie Nie, Xiaodan Qin, Xu Zhang, Qian Wang, John Zhong Li   +6 more
doaj   +1 more source

Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis

罕见病研究
Hereditary transthyretin amyloidosis(ATTRv) is a rare autosomal dominant multisystem disease caused by pathogenic variations in the TTR gene, mainly affecting peripheral nerves, heart, digestive tract, eyes, kidneys, and leptomeninges, among others.
Rare Disease Branch of Chinese Medical Association, Rare Disease Branch of Beijing Medical Association   +1 more
doaj   +1 more source

Drug target gene-based analyses of drug repositionability in rare and intractable diseases

Scientific Reports, 2021
Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
doaj   +1 more source

The Chinese Management Consensus on Compassionate Use of Investigational New Drugs in Medical Institutions(2026)

Xiehe Yixue Zazhi
In accordance with the Pharmaceutical Administration Law of the People's Republic of China revised in 2019 and the Implementing Regulations of the Pharmaceutical Administration Law of the People's Republic of China effective in 2026, Peking Union Medical
Rare Disease Collaborative Group, Peking Union Medical College Hospital, Professional Committee on Rare Disease Drugs, Chinese Pharmaceutical Association, Rare Disease Branch, Chinese Medical Association   +2 more
doaj   +1 more source

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Lipedema, a Rare Disease [PDF]

Annals of Rehabilitation Medicine, 2011
Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Shin, Bae Wook, Sim, Young-Joo, Jeong, Ho Joong, Kim, Ghi Chan   +3 more
openaire   +2 more sources

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes. [PDF]

, 2011
Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied.
Margaret Gelder Ehm, Sharon R. Browning, Slater, Andrew J., Browning, Brian L., Aponte, Jennifer L., Browning Sharon R., Ehm, Margaret Gelder, Stephanie L Chissoe, Whittaker John C., Mooser, Vincent E., Sharon R Browning, Li, Li, Vincent E. Mooser, Jennifer L. Aponte, Brian L Browning, Li Yun, Whittaker, John C., Jennifer L Aponte, Browning, Brian L, Ehm Margaret Gelder, Browning, Sharon R, Whittaker, John C, Nelson, Matthew R, Mooser Vincent E., Aponte, Jennifer L, John C. Whittaker, Matthew R Nelson, Andrew J Slater, Vincent E Mooser, Browning Brian L., Mooser, Vincent E, Nelson Matthew R., Nelson, Matthew R., Li, Yun, John C Whittaker, Yun Li, Chissoe Stephanie L., Browning, Sharon R., Kong Xiangyang, Slater, Andrew J, Chissoe, Stephanie L, Matthew R. Nelson, Chissoe, Stephanie L., Li Li, Andrew J. Slater, Stephanie L. Chissoe, Xiangyang Kong, Slater Andrew J., Kong, Xiangyang, Aponte Jennifer L., Brian L. Browning   +50 more
core   +2 more sources

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases [PDF]

, 2022
Publisher Copyright: © 2022 Association for Molecular Pathology and American Society for Investigative PathologyMany patients experiencing a rare disease remain undiagnosed even after genomic testing.
Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium
core   +1 more source

Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease [PDF]

, 2022
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘the ...
Hampson, Caitlin, Caitlin Hampson, Lara Menzies, Evans, William, William Evans, Lucy McKay, McKay, Lucy, Menzies, Lara   +7 more
core   +1 more source

An unusual unifocal presentation of Castleman’s disease in a young woman with a detailed description of sonographic findings to reduce diagnostic uncertainty: a case report [PDF]

, 2013
Background: Castleman’s disease is a rare lymphoproliferative disorder. It typically presents as mediastinal masses and causes a wide range of clinical symptoms.
Zerrin Maden, Norbert Wagner, Wagner, Norbert, Maden, Zerrin   +3 more
core   +1 more source