Results 71 to 80 of about 912,676 (170)

Oligodendrocyte precursor cells–microglia crosstalk via BMP4 drives microglial neuroprotective response and mitigates Alzheimer’s disease

Signal Transduction and Targeted Therapy
Oligodendrocyte precursor cells (OPCs) rapidly respond to neural injury, becoming activated to preserve myelin homeostasis and interacting with diverse cell types in the central nervous system (CNS). However, the molecular basis of OPC communication with
Soonbong Baek, Jaemyung Jang, Seungeun Yeo, Hyun Jin Jung, Youngshik Choe   +4 more
doaj   +1 more source

Longitudinal deep multi-omics profiling in a CLN3 Δex7/8 minipig model identifies biomarker signatures of disease

Communications Medicine
Background Development of therapies for CLN3 disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. Methods We used a deep multi-omics approach to discover blood-
Mitchell J. Rechtzigel, Brittany Lee, Christine Neville, Ting Huang, Ramón Díaz, Alex Rosa Campos, Khatereh Motamedchaboki, Daniel Hornburg, Tyler B. Johnson, Vicki J. Swier, Jill M. Weimer, Jon J. Brudvig   +11 more
doaj   +1 more source

Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews

Rare
Background: Early diagnosis of Fabry disease (FD) is crucial to initiate treatment and mitigate disease progression but is hindered by the rarity and non-specific symptoms of disease.
Stuart Gaffney, Kamran Iqbal, Phil Dawson, Thomas Kenny   +3 more
doaj   +1 more source

A rare presentation of a rare disease

Egyptian Journal of Bronchology, 2014
Castleman's disease, a rare condition of uncertain etiology, is associated with lymphoproliferation. It is histologically and prognostically distinct from malignant lymph node hyperplasia. We report a case of a female patient who presented with interstitial lung disease and mediastinal lymphadenopathy, not responding to usual treatment.
openaire   +1 more source

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I

Orphanet Journal of Rare Diseases
Background Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available.
Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu   +5 more
doaj   +1 more source

Care for Rare: Spotlight on Rare Diseases [PDF]

Trends in Pharmacological Sciences, 2019
openaire   +2 more sources

Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles

Human Genomics
Background High-quality genomic datasets from under-representative populations are essential for population genetic analysis and medical relevance. Although the Tujia are the most populous ethnic minority in southwestern China, previous genetic studies ...
Jing Chen, Mengge Wang, Shuhan Duan, Qingxin Yang, Yan Liu, Mengyang Zhao, Qiuxia Sun, Xiangping Li, Yuntao Sun, Haoran Su, Zhiyong Wang, Yuguo Huang, Jie Zhong, Yuhang Feng, Xiaomeng Zhang, Guanglin He, Jiangwei Yan   +16 more
doaj   +1 more source

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

BMC Genomics
Background Ancient northern East Asians (ANEA) from the Yellow River region, who pioneered millet cultivation, play a crucial role in understanding the origins of ethnolinguistically diverse populations in modern China and the entire landscape of deep ...
Haoran Su, Mengge Wang, Xiangping Li, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Zhiyong Wang, Qingxin Yang, Yuguo Huang, Jie Zhong, Jing Chen, Xiucheng Jiang, Jinyue Ma, Ting Yang, Yunhui Liu, Lintao Luo, Yan Liu, Junbao Yang, Gang Chen, Chao Liu, Yan Cai, Guanglin He   +21 more
doaj   +1 more source

The management of rare diseases [PDF]

Clinical Medicine, 2005
openaire   +2 more sources

Rare variants and disease [PDF]

Briefings in Functional Genomics, 2014
openaire   +2 more sources