Results 251 to 260 of about 613,759 (317)

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Leveraging Macrophage Metabolic Reprogramming for Enhanced Anti‐Tumor Immunity

Advanced Science, EarlyView.
Tumor‐associated macrophages (TAMs) are key regulators of the tumor microenvironment (TME), with their metabolic states playing a critical role in tumor progression or regression. This review summarizes current understanding of TAM metabolic plasticity alongside cutting‐edge bioengineering innovations, outlining a roadmap for transforming the ...
Zhiyun Liu, Lingyao Zeng, Xulin Gan, Yilin Zhou, Han Shen, Dan Wu, Xin Shou, Minmin Jiang, Liyun Shi   +8 more
wiley   +1 more source

First case of schizophrenia and OCD in TK2-related mitochondrial DNA depletion myopathy: a case report. [PDF]

BMC Psychiatry
Ngoh SH, Gudi A.
europepmc   +1 more source

Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study. [PDF]

Eur J Neurol
Citrigno L, Cerantonio A, Gagliardi M, Procopio R, Felicetti A, Aureli A, Morelli M, Annesi G.   +7 more
europepmc   +1 more source

Mitochondrial DNA replication is regulated by endoplasmic reticulum-mitochondrial contact sites, the mitochondrial calcium uniporter, and manganese. [PDF]

Nucleic Acids Res
Lopez de Arbina A, Zamudio-Ochoa A, Muñoz-Oreja M, Perez-Rodriguez D, Mosqueira-Martín L, Lasalandra R, Villar-Fernandez M, Fernandez-Pelayo U, Rodriguez-Gomez L, Lee S, Gil-Bea F, Osinalde N, Vallejo-Illaramendi A, Temiakov D, Spinazzola A, Holt IJ.   +15 more
europepmc   +1 more source

MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy. [PDF]

Nat Struct Mol Biol
Burr SP, Auckland K, Glynos A, Dhawanjewar A, Ryall C, Wei W, Hynes-Allen A, Prater M, Sczaniecka-Clift M, Prudent J, Chinnery PF, van den Ameele J.   +11 more
europepmc   +1 more source

Mitochondrial DNA release via VDAC1 in keratinocytes: a key driver of innate immunity and vitiligo pathogenesis. [PDF]

Cell Death Dis
Lv J, Xu W, Jiang P, Yu W, Xue H, Hu N, Cao Y, Zhang H, Yin C, Gao R.   +9 more
europepmc   +1 more source

Cytosolic TOP3α facilitates mitochondrial DNA sensing by cGAS. [PDF]

EMBO Rep
Cai D, Chen C, Meekrathok P, Zeng W, Wang Z, Peng Z, Mo Y, Xu X, Wang J, Qiu J.   +9 more
europepmc   +1 more source