Results 221 to 230 of about 1,610,430 (355)

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

DNA Damage and Repair in Ovarian Cancer: Focus on MicroRNAs. [PDF]

Cancers (Basel)
Arczewska KD, Piekiełko-Witkowska A.
europepmc   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

RPA1 protects DNA damage-induced PANoptosis in limb development. [PDF]

Sci Adv
Yin Q, Peng S, Zhang Z, Jiang S, Li X, Huang D, Li Y, Zhou J, Xiao J, Ye L, Yin Y, Yuan Q.   +11 more
europepmc   +1 more source

DNA damage and apoptosis [PDF]

Cell Death & Differentiation, 2001
openaire   +2 more sources

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source

Cholangiocytes' primary cilia regulate DNA damage response and repair. [PDF]

Am J Physiol Gastrointest Liver Physiol
Peixoto E, Pant K, Richard S, Popoca JP, Abrahante JE, Czaja W, Gradilone SA.   +6 more
europepmc   +1 more source

Radical scavenging potential and DNA damage protection of wild edible mushrooms of Kashmir Himalaya

, 2015
Nowsheen Shameem, Azra N. Kamili, Mushtaq Ahmad, F.A. Masoodi, Javid Ahmad Parray   +4 more
openalex   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

Targeting MCM6 Enhances Melphalan Chemosensitivity in Retinoblastoma by Modulating DNA Damage Response. [PDF]

Invest Ophthalmol Vis Sci
Wang M, Tang J, Li J, Lv J, Zhang Z, Liu Y, Sun H, Gao Y, Chen S, Tang L, Zhang P, Su S, Lu R.   +12 more
europepmc   +1 more source