Results 71 to 80 of about 3,165 (187)

Cardiovascular Autonomic Neuropathy in Charcot–Marie–Tooth Disease: A Genotype‐Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers

Journal of the Peripheral Nervous System, Volume 31, Issue 4, December 2026.
ABSTRACT Background and Aims Data on cardiovascular autonomic neuropathy (CAN) are sparse in Charcot–Marie–Tooth disease. We aimed to determine the prevalence of CAN in CMT1A and CMTX1 and its associations with neuropathy severity and heart rate variability (HRV), compared with age‐ and sex‐matched controls. Methods Thirty‐six CMT1A, 24 CMTX1 patients,
Kryštof Prášil, Veronika Potočková, Tomáš Nedělka, Alžběta Prášilová, Radim Mazanec   +4 more
wiley   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, Volume 20, Issue 11, Page 2839-2859, November 2026.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

TRIM28 Increases RFC4 Protein Expression to Promote Triple‐Negative Breast Cancer Progression

MedComm, Volume 7, Issue 10, October 2026.
RFC4 dysregulation has been implicated in tumor progression and poor prognosis across multiple cancer types. Triple‐negative breast cancer (TNBC) is an aggressive breast cancer subtype with limited therapeutic options and unfavorable clinical outcomes, highlighting the need to identify effective therapeutic targets.
Cheng Guo, Li Liu, Lixiang Sun, Litong Liu, Han Wei, Yutong Yan, Fei Yu, Guangming Fu, Xianning Dong, Ceshi Chen, Chengqin Wang   +10 more
wiley   +1 more source

Reduced folate carrier 1 (RFC1) gene polymorphisms among acute lymphoblastic leukemia patients

Journal of Biological Research
Reduced Folate Carrier1 (RFC1) gene's metabolism is crucial for DNA synthesis, epigenetic mechanisms, and cellular methylation events. Nonetheless, RFC1 polymorphisms have drawn a lot of interest in current medical genetics studies. The objectives of the
Mashaer Taha Edris, Maye Mohammad Merghani , Shaza Salih Gafar , Ahmed Mohamed Asmeli , Elrashed B. Yasin, Raed Alserihi , Haitham M.H. Qutob , Aymen Yasin, Elshazali Ali   +8 more
doaj   +1 more source

Methionine synthase A2756G and reduced folate carrier1 A80G gene polymorphisms as maternal risk factors for Down syndrome in Egypt

Egyptian Journal of Medical Human Genetics, 2016
Background: Polymorphisms of genes encoding enzymes involved in folate metabolism have long been hypothesized to be maternal risk factors for Down syndrome, however, results are conflicting and inconclusive.
Maha Moustafa, Elham Gaber, Gamal Abo El Fath   +2 more
doaj   +1 more source

Minimierung des Mutterkornbefalls im Hybridroggen durch Ansätze der Präzisionszüchtung

Journal für Kulturpflanzen, 2009
In Hybridsorten bei Winterroggen führt das Restorergen Rfp1 zu einer vollständigen Restauration der männlichen Fertilität und trägt dazu bei, die Kontamination des Erntegutes mit Mutterkorn zu minimieren.
Bernd Hackauf, Stefan Stojałowski, Heinrich Wortmann, Peer Wilde, Franz Joachim Fromme, Jutta Menzel, Viktor Korzun, Peter Wehling   +7 more
doaj   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Identification of expression profiles and prognostic value of RFCs in colorectal cancer

Scientific Reports
Colorectal cancer (CRC) ranks among the most prevalent cancers globally, with its incidence closely tied to DNA damage. The Replication Factor C (RFC) complexes comprises five protein subunits: RFC1, RFC2, RFC3, RFC4, and RFC5.
Md Misbah, Manoj Kumar, Abul Kalam Najmi, Mymoona Akhtar   +3 more
doaj   +1 more source

Effect of reduced folate carrier gene polymorphism (G80A) on the methotrexate level in patients with rheumatoid arthritis and it’s relation to the disease activity

Science Journal of University of Zakho
Methotrexate (MTX) is the primary conventional synthetic disease-modifying anti-rheumatic drug (csDMARD) used to treat rheumatoid arthritis (RA).
Rozheen Jaafar, Adil Eissa
doaj   +1 more source

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source