Results 291 to 300 of about 11,580,920 (364)

Comprehensive Characterization of Bihormonal Cells and Endocrine Cell Lineages in Mammalian Pancreatic Islets

Advanced Science, EarlyView.
This study integrates dual‐reporter genetics, imaging flow cytometry, and single‐cell sequencing to characterize rare bihormonal cells in mouse and human pancreatic islets. Gcg⁺Ins⁺ cells resemble α‐cells rather than transitional states. Cross‐species gene network analysis refines islet cell taxonomy and reveals human‐specific δ‐cell subtypes ...
Xin‐Xin Yu, Peng Peng, Yi‐Ning Wang, Mao‐Yang He, Shuang He, Chen‐Tao Jin, Liu Yang, Xi Wang, Jia‐Xi Zheng, Jie Gao, Cheng‐Ran Xu   +10 more
wiley   +1 more source

Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease. [PDF]

Med Sci (Basel)
Contractor JB, Radha V, Shah K, Singh P, Tadepalli S, Nimbalkar S, Mohan V, Shah P.   +7 more
europepmc   +1 more source

Alistipes senegalensis is Critically Involved in Gut Barrier Repair Mediated by Panax Ginseng Neutral Polysaccharides in Aged Mice

Advanced Science, EarlyView.
An integral functional axis through which GPN and functional metabolites of Alistipes senegalensis can hydrolyze tryptophan into indoles. Furthermore, the Alistipes senegalensis‐indole‐AhR pathway is found to be associated with increased expression of tight junction‐associated proteins and activation of gut stem cells.
Dandan Wang, Hui Wang, Yingna Li, Jing Lu, Xiaolei Tang, Dan Yang, Manying Wang, Daqing Zhao, Fangbing Liu, Shuai Zhang, Liwei Sun   +10 more
wiley   +1 more source

P383: Genetic counseling for clinical sequencing: Addressing variants of uncertain significance in rare disease diagnosis

Genetics in Medicine Open
Sumin Ji, Hyon Kim
doaj  

Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study. [PDF]

BMC Med Educ
Liu A, Hao W, Xu J, Zhu H, Yang H, Yang J.   +5 more
europepmc   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Correction: Network Meta-analysis of Ravulizumab and Alternative Interventions for the Treatment of Neuromyelitis Optica Spectrum Disorder

Neurology and Therapy
Stacey L. Clardy, Sean J. Pittock, Orhan Aktas, Jin Nakahara, Noriko Isobe, Diego Centonze, Sami Fam, Adrian Kielhorn, Jeffrey C. Yu, Jeroen Jansen, Ina Zhang   +10 more
doaj   +1 more source

Synthetic data generation: a privacy-preserving approach to accelerate rare disease research. [PDF]

Front Digit Health
Mendes JM, Barbar A, Refaie M.
europepmc   +1 more source

Phosphorylation‐Dependent Stabilization of Collaborator of ARF (CARF) Suppresses Lymphoma Cell Proliferation

Advanced Science, EarlyView.
This study revealed that oncogene Collaborator of ARF (CARF) is closely related to B‐cell lymphoma tumorigenesis, and shares a conserved mechanism regulating protein stability with Arabidopsis Kip‐Related Protein6 (KRP6) through casein kinase 1‐mediated phosphorylation. Reduced phosphorylation led to the enhanced protein stability of CARF, resulting in
Li Qu, Zhuang Wei, Shuting Zhou, Xiaofan Zhang, Wenjun Zhang, Aibin Liang, Zhe Wang, Hongwei Xue   +7 more
wiley   +1 more source

Pulmonary lymphangiomatosis: insights into an ultra-rare disease. [PDF]

Respir Res
Polke M, Polke N, Piel S, Brunnemer E, Wälscher J, Buschulte K, Warth A, Heussel CP, Eichinger M, Frankenstein L, Eichhorn M, Miliauskas S, Herth FJF, Kreuter M.   +13 more
europepmc   +1 more source