Original Article
|
Open Access
Featured
-
-
Original Article
| Open AccessAdropin deficiency worsens HFD-induced metabolic defects
- Shi Chen
- , Kai Zeng
- & Feng Gao
-
Original Article
| Open AccessHeterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations
- Joel Fulton
- , Bismoy Mazumder
- & David M Heery
-
Original Article
| Open Accessp53 loss-of-heterozygosity is a necessary prerequisite for mutant p53 stabilization and gain-of-function in vivo
- Evguenia M Alexandrova
- , Safia A Mirza
- & Ute M Moll
-
Original Article
| Open AccessCALCB splice region pathogenic variants leading to plasma cell neurotropic enrichment in type 1 autoimmune pancreatitis
- Qi-cai Liu
- , Falin Chen
- & Xin-hua Lin
-
Review
| Open AccessATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking
- M Micaroni
- , G Giacchetti
- & L Federici
-
Original Article
| Open AccessParp mutations protect against mitochondrial dysfunction and neurodegeneration in a PARKIN model of Parkinson’s disease
- S Lehmann
- , A C Costa
- & L M Martins
-
Original Article |
p53MutaGene: an online tool to estimate the effect of p53 mutational status on gene regulation in cancer
- I Amelio
- , R A Knight
- & A V Antonov
-
News and Commentary
| Open AccessGenetic profiling of CLL: a ‘TP53 addict’ perspective
- L Lodé
- , F Cymbalista
- & T Soussi
-
Original Article
| Open AccessCigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways
- L Giordano
- , S Deceglie
- & P Cantatore
-
Original Article
| Open AccessThe point mutation UCH-L1 C152A protects primary neurons against cyclopentenone prostaglandin-induced cytotoxicity: implications for post-ischemic neuronal injury
- H Liu
- , W Li
- & S H Graham
-
Original Article
| Open AccessD-2-Hydroxyglutarate does not mimic all the IDH mutation effects, in particular the reduced etoposide-triggered apoptosis mediated by an alteration in mitochondrial NADH
- K Oizel
- , C Gratas
- & C Pecqueur
-
Original Article
| Open AccessLong noncoding RNA lincRNA-p21 is the major mediator of UVB-induced and p53-dependent apoptosis in keratinocytes
- J R Hall
- , Z J Messenger
- & R C Smart
-
Original Article
| Open AccessEndometrial cancer-associated mutants of SPOP are defective in regulating estrogen receptor-α protein turnover
- P Zhang
- , K Gao
- & C Wang
-
Original Article
| Open AccessAngelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome
- V Tomaić
- & L Banks
-
Original Article
| Open AccessBiological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
- L Ruan
- , Z Zhang
- & D-M Su
-
Correspondence
| Open AccessAML cells carrying NPM1 mutation are resistant to nucleophosmin displacement from nucleoli caused by the G-quadruplex ligand TmPyP4
- A De Cola
- , L Pietrangelo
- & L Federici
-
Original Article
| Open AccessMutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans
- C-C Lee
- , Y-T Tsai
- & S J Lo
-
Original Article
| Open AccessHomozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks
- N T Martin
- , K Nakamura
- & P Concannon
-
Original Article
| Open AccessUnequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity
- J Xu
- , J Wang
- & J-Y Fang
-
Original Article
| Open AccessA
NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency- X Wu
- , B Wang
- & Y Xu
-
Original Article
| Open AccessNovel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
- A Terrinoni
- , V Serra
- & E Candi
-
Review
| Open AccessAn in vitro perspective on the molecular mechanisms underlying mutant huntingtin protein toxicity
- G Cisbani
- & F Cicchetti
-
Original Article
| Open AccessPrimary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro
- H Moniz
- , M Gastou
- & L Da Costa
-
Original Article
| Open AccessHuman neuroblastoma cells with acquired resistance to the p53 activator RITA retain functional p53 and sensitivity to other p53 activating agents
- M Michaelis
- , F Rothweiler
- & J Cinatl Jr
-
Original Article
| Open AccessBRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy
- M Colombino
- , P Sperlongano
- & G Palmieri
-
Original Article
| Open AccessAdaptation of cancer cells from different entities to the MDM2 inhibitor nutlin-3 results in the emergence of p53-mutated multi-drug-resistant cancer cells
- M Michaelis
- , F Rothweiler
- & J Cinatl jr
-
Original Article
| Open AccessA new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics
- D Nguyen
- , M V Alavi
- & W-K Ju
-
Original Article
| Open AccessRas mutation cooperates with β-catenin activation to drive bladder tumourigenesis
- I Ahmad
- , R Patel
- & O J Sansom
-
Original Article
| Open AccessAutism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1
- E Fujita
- , H Dai
- & T Momoi
-
Original Article
| Open AccessMutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3)
- J Sassone
- , C Colciago
- & A Ciammola