Results 281 to 290 of about 11,580,920 (364)

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. [PDF]

Genome Res
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M, Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE, Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A, Solve-RD consortium.   +57 more
europepmc   +1 more source

Darier's Disease: Report Of A New Case With A Rare Clinical Appearance

, 2002
Abbas Darjani, Afshar Ramezanpour
openalex   +2 more sources

Forage Crop Research in the Modern Age

Advanced Science, EarlyView.
Forage crops are increasingly vital to sustainable agriculture, yet urgent demands for transformative innovations create unprecedented opportunities and challenges. This review synthesizes the latest advances in forage research, spotlighting cutting‐edge breeding technologies and their transformative potential.
Qikun Liu, Gai Huang, Zhiqiang Zhang, Zhelong Lin, Xian Deng, Xueming Dong, Zhipeng Liu, Zan Wang, Yingjun Zhang, Hai‐chun Jing, Kang Chong, Xiaofeng Cao   +11 more
wiley   +1 more source

"Lack" and "Finally": A Qualitative Analysis of Barriers and Facilitators in Rare Disease Healthcare. [PDF]

Int J Environ Res Public Health
Hemmesch AR, Bogart KR, Barnes E.
europepmc   +1 more source

Advances in Single‐Cell Sequencing for Infectious Diseases: Progress and Perspectives

Advanced Science, EarlyView.
Single‐cell sequencing technologies uncover novel, unknown, and emergent features of many diseases. This review describes recent progress of single‐cell sequencing technologies and their applications in infectious diseases, summarizes the underlying commonalities of different infections and discusses future research directions, facilitating the ...
Mengyuan Lyu, Yang Liu, Jian Zhou, Hongli Lai, Hongxia Ruan, Dongsheng Wu, Shun Zhu, Xudong Zhou, Wananqi Ma, Yuchen Huang, Shuting Lei, Han Luo, Jie Chen, Binwu Ying   +13 more
wiley   +1 more source

P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question

Genetics in Medicine Open, 2023
Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini   +5 more
doaj  

Primary Intrathoracic Synovial Sarcoma: An Analysis of Outcomes of This Rare Disease. [PDF]

Cancers (Basel)
Patel RR, Bishop AJ, Lazar AJ, Lin PP, Benjamin RS, Patel SR, Ludwig J, Ravi V, Vaporciyan AA, Araujo DM.   +9 more
europepmc   +1 more source

Single‐Cell Analysis Clarifies Pathological Heterogeneity in Tenosynovial Giant Cell Tumor and Identifies Biomarkers for Predicting Disease Recurrence

Advanced Science, EarlyView.
MP3 tumor cells, a specific subpopulation of tumor cells in D‐TGCT, regulated the differentiation of CD34+ Fbs into MMP3+ Fbs and APOE+ Fbs through COL6A3 − (ITGAV + ITGB8) interaction. APOE+ Fbs activated IL‐1B+CCL20+ Mφs through the CXCL12/CXCR4 axis. IL‐1B+CCL20+ Mφs and MMP3+ Fbs participated in the local invasion of D‐TGCT.
Yubin Xie, Chen Chen, Fei Wu, Yiman Peng, Jing Su, Yang Zhao, Hongjie Huang, Zhong Alan Li, Yin Pei, Wencui Li, Yi He, Tianchen Xue, Chenxi Cao, Sui Peng, Xin Zhang, Weidong Song   +15 more
wiley   +1 more source

Choroid Plexus Fibroblast–ILC2 Niche Promotes Adult Hippocampal Neurogenesis after Traumatic Brain Injury

Advanced Science, EarlyView.
This study investigates the role of group 2 innate lymphoid cells (ILC2) in the choroid plexus (ChP) following traumatic brain injury (TBI). ILC2 accumulation alleviates immune infiltration, preserves hippocampal integrity, and improves sensory‐motor and memory functions.
Shiqi Gao, Xiaoming Guo, Sixuan Tian, Huaping Huang, Caidi Ying, Junjie Wang, Jiahao Zhang, Jun Lin, Anwen Shao, Jingyu Wang, Yuan Hong   +10 more
wiley   +1 more source

Nirogacestat-the pathway to approval of the first treatment for desmoid tumors, a rare disease. [PDF]

Ther Adv Rare Dis
Kummar S, Bui N, Messersmith WA, Whiting J, Portnoy M, Lim A, Mary L.   +6 more
europepmc   +1 more source