397 real negative results, null findings, and replication failures in Biochemistry, Genetics and Molecular Biology · Negative / Null Result Report. Search the index →
WASTE indexes published research — it does not host or republish full papers. Each entry is a metadata record compiled from open scholarly databases; the abstract is shown in full only where the paper is openly licensed, otherwise a short excerpt under fair use. Classifications are automated and approximate.
Da‐Tian Bau · 2011 · The Chinese Journal of Physiology
Many articles have reported the caveolin-1 gene to be down-regulated thus suggesting that it might be a candidate tumor suppressor gene in many tumors. However, its involvement in bladder cancer is not clear and may be depending on…
View details →Andrea J. Savio, Mathieu Lemire, Miralem Mrkonjic et al. · 2012 · PLoS ONE
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. Recent studies have identified less CpG-dense "shore" regions flanking many CpG islands. These shores often exhibit distinct methylation profiles between different tissues and matched normal versus tumor cells of patients. To date, most epigenetic studie
View details →José M. Eltit, Clara Franzini‐Armstrong, Claudio F. Pérez · 2014 · Journal of Biological Chemistry
The β1a subunit is a cytoplasmic component of the dihydropyridine receptor (DHPR) complex that plays an essential role in skeletal muscle excitation-contraction (EC) coupling. Here we investigate the role of the C-terminal end of this auxiliary subunit in the functional and structural communication between the DHPR and the Ca2+ release channel (RyR1). Progressive truncation of the β1a C terminus showed that deletion of amino acid residues Gln489 to Trp503 resulted in a loss of depolarization-induced Ca2+ release, a severe reduction of L-type Ca2+ currents, and a lack of tetrad formation as eva
View details →Josef Biber, Catharina Gandor, Elvir Bećirović et al. · 2025 · Pharmacology & Therapeutics
Gene therapy is an innovative medical approach that offers new treatment options for congenital and acquired diseases by transferring, correcting, inactivating or regulating genes to supplement, replace or modify a gene function. The approval of voretigene neparvovec (Luxturna), a gene therapy for RPE65-associated retinopathy, has marked a milestone for the field of retinal gene therapy, but has also helped to accelerate the development of gene therapies for genetic diseases affecting other organs. Voretigene neparvovec is a vector based on adeno-associated virus (AAV) that delivers a function
View details →Mboneye Anselme, Huafeng He, Chengyang Lai et al. · 2025 · Journal of Translational Medicine
In the realm of cellular biochemistry, mitochondria have been increasingly recognized for their critical role in both cellular metabolism and the etiology of various diseases. Mitochondrial transporters (MTs) are essential for maintaining…
View details →Diego Chemello, Luís Eduardo Paim Rohde, Kátia Gonçalves dos Santos et al. · 2010 · EP Europace
AIMS: We investigated whether the combination of beta(1)-Gly389Arg and GNB3 C825T, two genetic polymorphisms strictly related to adrenergic system modulation, could act as predictors of appropriate therapies in patients with heart failure…
View details →Qiyao Zhang, Zhen Cao, Shangcheng Yan et al. · 2025 · Journal of Translational Medicine
Pancreatic cancer, specifically pancreatic ductal adenocarcinoma (PDAC), is notorious for its aggressive nature and dismal prognosis, ranking as a leading cause of cancer-related mortality worldwide. Despite advancements in surgical…
View details →Hieab H.H. Adams, Vincentius J.A. Verlinden, Michele L. Callisaya et al. · 2015 · The Journals of Gerontology Series A
Human gait is a complex neurological and musculoskeletal function, of which the genetic basis remains largely unknown. To determine the influence of common genetic variants on gait parameters, we studied 2,946 participants of the Rotterdam…
View details →Ivan Antonov, Andrey V. Marakhonov, Maria A. Zamkova et al. · 2018 · Journal of Bioinformatics and Computational Biology
The discovery of thousands of long noncoding RNAs (lncRNAs) in mammals raises a question about their functionality. It has been shown that some of them are involved in post-transcriptional regulation of other RNAs and form inter-molecular…
View details →Michael Rabbia, Maitea Guridi Ormazabal, Hannah Staunton et al. · 2024 · Journal of Neuromuscular Diseases
Background: Stride Velocity 95th Centile (SV95C) is the first wearable device-derived clinical outcome assessment (COA) to receive European Medicines Agency (EMA) qualification as a primary endpoint in ambulant patients with Duchenne muscular dystrophy (DMD) aged ≥4 years. Objective: To compare SV95C-in its first-ever clinical trial application as a secondary endpoint-with established motor function COAs used in the trial (Four-Stair Climb [4SC] velocity, North Star Ambulatory Assessment [NSAA], and Six-Minute Walk Distance [6MWD]). Methods: SV95C was a secondary endpoint in a subset (n = 47)
View details →Enrique Rozengurt, G. Eibl · 2026 · Signal Transduction and Targeted Therapy
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease for which there is no effective treatment. A deep understanding of the mechanisms underlying the molecular pathogenesis, signaling pathways and risk factors leading to PDAC is of paramount importance for identifying novel targets, prognostic markers, preventive strategies, and signature markers for use in specific and personalized therapeutic procedures. Activating somatic mutations in the KRAS oncogene play a critical role in PDAC initiation and maintenance. Here, we highlight the complex interplay between KRAS signaling, the tr
View details →Jialin Fan, Yunpeng Xu · 2026 · Frontiers in Genetics
Dietary restriction (DR), defined as reduced caloric intake or selective limitation of specific nutrients without malnutrition, is one of the most robust interventions known to extend lifespan and healthspan across species. Studies from yeast to mammals demonstrate that DR elicits conserved genetic, transcriptional, and epigenetic programs that promote cellular maintenance and stress resistance. At the molecular level, DR engages evolutionarily conserved nutrient-sensing pathways, including insulin/IGF-1 signaling (IIS), the mechanistic target of rapamycin (mTOR), AMP-activated protein kinase
View details →Marlee R. Labroo, Jeffrey B. Endelman, Dorcus C. Gemenet et al. · 2023 · Theoretical and Applied Genetics
KEY MESSAGE: Reciprocal recurrent selection sometimes increases genetic gain per unit cost in clonal diploids with heterosis due to dominance, but it typically does not benefit autopolyploids. Breeding can change the dominance as well as additive genetic value of populations, thus utilizing heterosis. A common hybrid breeding strategy is reciprocal recurrent selection (RRS), in which parents of hybrids are typically recycled within pools based on general combining ability. However, the relative performances of RRS and other breeding strategies have not been thoroughly compared. RRS can have re
View details →Hui Shi, Christopher Medway, James M. Bullock et al. · 2010 · PubMed
We have performed cross-platform comparisons of output from 4 GWAS in late-onset Alzheimer's disease (LOAD) - Reiman et al., 2007; Li et al., 2008; Beecham et al., 2008 and Carrasquillo et al., 2009 to search for new association signals.…
View details →Burney, Saira, Muhammad Wasif Saif, Saif, Muhammad Wasif et al. · 2013 · PubMed
CONTEXT: Pancreatic cancer is the fourth leading cause of cancer mortality in the United States. Most of the patients are diagnosed in the metastatic staging. Consolidated risk factors include chronic pancreatitis, smoking and family…
View details →Fernanda Marcondes de Rezende, M. Haile‐Mariam, J.E. Pryce et al. · 2020 · Journal of Dairy Science
The use of information across populations is an attractive approach to increase the accuracy of genomic predictions for numerically small breeds and traits that are time-consuming and difficult to measure, such as male fertility in cattle.…
View details →Kevin J. Mitchell, Darren Dahly, Dorothy Bishop · 2025 · Neuron
The idea that the gut microbiome causally contributes to autism has gained currency in the scientific literature and popular press. Support for this hypothesis comes from three lines of evidence: human observational studies, preclinical experiments in mice, and human clinical trials. We critically assessed this literature and found that it is beset by conceptual and methodological flaws and limitations that undermine claims that the gut microbiome is causally involved in the etiology or pathophysiology of autism.
View details →Olayemi O. Adeoye, Vincent Bouthors, Margaret C. Hubbell et al. · 2014 · Journal of Applied Physiology
Recent studies suggest that VEGF contributes to hypoxic remodeling of arterial smooth muscle, although hypoxia produces only transient increases in VEGF that return to normoxic levels despite sustained changes in arterial structure and…
View details →Kaneen Gomez-Hixson, Ericka Biagioni, Melissa Brown · 2020 · Journal of American College Health
Objective: This study evaluated dietary intake patterns of NCAA Division III soccer players compared to recommended levels. Participants: NCAA Division III soccer players (n = 75). Methods: Actual dietary intake was determined by the…
View details →Zhiyu Yang, Fanny‐Dhelia Pajuste, Kristina Zguro et al. · 2025 · Nature Genetics
Abstract Understanding disease progression is of high biological and clinical interest. Unlike disease susceptibility, whose genetic basis has been abundantly studied, less is known about the genetics of disease progression and its overlap with disease susceptibility. Considering nine common diseases ( n cases ranging from 11,980 to 124,682) across seven biobanks, we systematically compared genetic architectures of susceptibility and progression, defined as disease-specific mortality. We identified only one locus substantially associated with disease-specific mortality and showed that, at a si
View details →Mireia M. Ginesta, Zamira V. Díaz‐Riascos, Juli Busquets et al. · 2016 · Oncology Letters
Early detection of pancreatic and periampullary neoplasms is critical to improve their clinical outcome. The present authors previously demonstrated that DNA hypermethylation of adenomatous polyposis coli (APC), histamine receptor H2…
View details →Marja-Liisa Nuotio, Heini Sánez Tähtisalo, Alexandra Lahtinen et al. · 2022 · Epigenetics
Essential hypertension remains the leading risk factor of global disease burden, but its treatment goals are often not met. We investigated whether DNA methylation is associated with antihypertensive responses to a diuretic, a beta-blocker, a calcium channel blocker or an angiotensin receptor antagonist. In addition, since we previously showed an SNP at the transcription start site (TSS) of the catecholamine biosynthesis-related ACY3 gene to associate with blood pressure (BP) response to beta-blockers, we specifically analysed the association of methylation sites close to the ACY3 TSS with BP
View details →Roberta Ottria, Susan Mirmajidi, Pierangela Ciuffreda · 2026 · International Journal of Molecular Sciences
This review delves into the complex relationship between short-chain fatty acids (SCFAs) produced by the gut microbiota and inflammatory bowel disease (IBD). IBD, which includes Crohn's disease and ulcerative colitis, is a group of chronic gastrointestinal disorders with an increasing global incidence. Despite extensive research, the exact etiopathogenesis remains elusive, although a complex interplay involving genetic predisposition, environmental influences, and abnormal immune responses against commensal gut microbes is widely recognized. SCFAs, primarily acetate and butyrate, emerge as key
View details →Isaac Shiri, Sebastian Balzer, Giovanni Baj et al. · 2024 · European Journal of Nuclear Medicine and Molecular Imaging
PURPOSE: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a frequent concomitant condition in patients with severe aortic stenosis (AS), yet it often remains undetected. This study aims to comprehensively evaluate artificial intelligence-based models developed based on preprocedural and routinely collected data to detect ATTR-CM in patients with severe AS planned for transcatheter aortic valve implantation (TAVI). METHODS: Tc]-DPD) for the presence of ATTR-CM. Clinical, laboratory, electrocardiogram, echocardiography, invasive measurements, 4-dimensional cardiac CT (4D-CCT) strain data, and C
View details →Roohi Chaudhary, Ralf Weiskirchen, Marcelo Ehrlich et al. · 2025 · Frontiers in Pharmacology
The transforming growth factor-β (TGF-β) superfamily (TGF-β-SF) comprises over 30 cytokines, including TGF-β, activins/inhibins, bone morphogenetic proteins (BMPs), and growth differentiation factors (GDFs). These cytokines play critical roles in liver function and disease progression. Here, we discuss Smad-dependent (canonical) and non-Smad pathways activated by these cytokines in a hepatocellular context. We highlight the connection between the deregulation of these pathways or the balance between them and key hepatocellular processes (e.g., proliferation, apoptosis, and epithelial-mesenchym
View details →Aris Katzourakis, Stéphane Hué, Paul Kellam et al. · 2011 · Journal of Virology
Xenotropic murine leukemia virus (MLV)-related virus (XMRV) has been amplified from human prostate cancer and chronic fatigue syndrome (CFS) patient samples. Other studies failed to replicate these findings and suggested PCR contamination…
View details →Harkeran K. Jandu, Colin Veal, Laura Fachal et al. · 2023 · Radiotherapy and Oncology
Background and purpose Up to a quarter of breast cancer patients treated by surgery and radiotherapy experience clinically significant toxicity. If patients at high risk of adverse effects could be identified at diagnosis, their treatment could be tailored accordingly. This study was designed to identify common single nucleotide polymorphisms (SNPs) associated with toxicity two years following whole breast radiotherapy. Materials and Methods A genome-wide association study (GWAS) was performed in 1,640 breast cancer patients with complete SNP, clinical, treatment and toxicity data, recruited a
View details →Ayca Gucalp, Tiffany A. Traina · 2017 · Cancer
Patients with triple-negative breast cancer (TNBC) generally are considered a single clinical subgroup, defined by the lack of receptor expression, and are uniformly treated with cytotoxic chemotherapy. However, the advent of molecular…
View details →Bożena Nejman-Faleńczyk, Beata Nadratowska-Wesołowska, Agnieszka Szalewska-Pałasz et al. · 2010 · Microbiology
The pathogenicity of Shiga toxin-producing Escherichia coli (STEC) depends on the expression of stx genes that are located on lambdoid prophages. Effective toxin production occurs only after prophage induction, and one may presume that…
View details →Aras Fahrettin Korkmaz, Fatih Ekinci, Şehmus Altaş et al. · 2025 · Biology
This study presents a novel approach for classifying Discomycetes species using deep learning and explainable artificial intelligence (XAI) techniques. The EfficientNet-B0 model achieved the highest performance, reaching 97% accuracy, a 97% F1-score, and a 99% AUC, making it the most effective model. MobileNetV3-L followed closely, with 96% accuracy, a 96% F1-score, and a 99% AUC, while ShuffleNet also showed strong results, reaching 95% accuracy and a 95% F1-score. In contrast, the EfficientNet-B4 model exhibited lower performance, achieving 89% accuracy, an 89% F1-score, and a 93% AUC. These
View details →