Results 211 to 220 of about 731,846 (342)

Aging alters genomic instability at endogenous mutation hotspots in mice. [PDF]

Sci Rep
D'Amico AM, Li TT, Wylie D, Wang G, Vasquez KM.   +4 more
europepmc   +1 more source

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia [PDF]

, 2019
Cuibai Wei, Qi Qin, Fei Chen, Aihong Zhou, Fen Wang, Xiumei Zuo, Rong Chen, Jihui Lyu, Jianping Jia   +8 more
openalex   +1 more source

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with <i>TGFBI</i> mutation. [PDF]

Front Med (Lausanne)
Kuang L, Zhang X, Wang Y, Zhan Q, Su J, Lin B, Guo P.   +6 more
europepmc   +1 more source

A VEGETATIVE MUTATION AND MATERNAL INHERITANCE OF A WHITE-MARGINED VARIEGATION IN PETUNIA

, 1929
Hirosi TERAO, N. U. IMPERIAL
openalex   +2 more sources

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease [PDF]

, 2015
Noel C. Wortham, Christopher G. Proud
openalex   +1 more source

DKK3 Initially Preserves Acinar Integrity Through MEK‐Fos Signaling, but Later Switches to an Oncogenic Role in Pancreatic Cancer

Advanced Science, EarlyView.
In pancreatic cancer, the protein DKK3 is found to play a complex role: it initially slows early tumor growth but later promotes tumor aggressiveness. DKK3 expression evolves during progression and drives cancer severity by orchestrating cellular and molecular signaling pathways.
Dharini Srinivasan, Elodie Roger, Lukas Perkhofer, Eleni Zimmer, Thomas F.E. Barth, Julia P. Mosler, Anna Härle, Stephanie E. Weissinger, Nadine T. Gaisa, Peter Möller, Nico Fischer, Chantal Allgöwer, J.‐Matthias Löhr, Dirk Grimm, Thomas Seufferlein, Stefan Liebau, Ninel Azoitei, Michael K. Melzer, Frank Arnold, Johann Gout, Alexander Kleger   +20 more
wiley   +1 more source

MELAS should only be diagnosed if the Hirano or Japanese criteria are met. [PDF]

Radiol Case Rep
Finsterer J.
europepmc   +1 more source

P2‐060: Peripheral white blood cell count may be diminished in familial Alzheimer's disease mutation carriers [PDF]

, 2011
John M. Ringman
openalex   +1 more source

Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids

Advanced Science, EarlyView.
Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang, Tsering Yangzom, Ning Lu, Shenglong Deng, Xianglu Xiao, Guang Yang, Kristina Xiao Liang   +6 more
wiley   +1 more source