Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Benjamin L. Rambo‐Martin, Jennifer G. Mulle, David J. Cutler et al. · 2017 · G3 Genes Genomes Genetics
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: (1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and (2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microdup
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Monica E. Mesecar, Megan F. Duffy, Dominic J. Acri et al. · 2026 · npj Aging
As age is a significant risk factor for multiple neurodegenerative diseases, investigating normal brain aging may help identify molecular events contributing to increased disease risk over time. Single-nucleus RNA sequencing (snRNA-seq) enables analysis of gene expression changes within specific cell-types, offering insights into the molecular mechanisms underlying aging. However, most brain aging snRNA-seq datasets use age-matched controls from studies focused on pathology and sample cortical regions. Therefore, there is a need to investigate non-pathological aging within brain regions vulner
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Takeshi Kuroda, Naohito Tanabe, Daisuke Kobayashi et al. · 2012 · BMC Nephrology
BACKGROUND: The kidney is a major target organ for systemic amyloidosis that often affects the kidney including proteinura, and elevated serum creatinine (Cr). The correlation between amount of amyloid deposits and clinical parameters is not known. The aim of this study was to clarify correlation the amyloid area in all renal biopsy specimen and clinical parameters. METHODS: Fifty-eight patients with an established diagnosis of AL amyloidosis participated in the study. All patients showed amyloid deposits in renal biopsies. We retrospectively investigated the correlation between clinical data
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Ryan Zenhausern, Bora Jang, Elisa Schrader Echeverri et al. · 2025 · Nature Biotechnology
Understanding how well delivery in mice predicts delivery in nonhuman primates (NHPs) could make lipid nanoparticle (LNP) discovery more efficient. Yet, few LNP-mRNA drug candidates are tested in NHPs, in part because the experiments…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Xue Zhou, Yang Xu, Jia Wang et al. · 2011 · PLoS ONE
BACKGROUND: Autism is a common, severe and highly heritable neurodevelopmental disorder in children, affecting up to 100 children per 10,000. The MET gene has been regarded as a promising candidate gene for this disorder because it is located within a replicated linkage interval, is involved in pathways affecting the development of the cerebral cortex and cerebellum in ways relevant to autism patients, and has shown significant association signals in previous studies. PRINCIPAL FINDINGS: Here, we present new ASD patient and control samples from Heilongjiang, China and use them in a case-contro
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Stephanie Loomis, Man Li, Nisa M. Maruthur et al. · 2018 · Diabetes
Fructosamine and glycated albumin are potentially useful alternatives to hemoglobin A1c (HbA1c) as diabetes biomarkers. The genetic determinants of fructosamine and glycated albumin, however, are unknown. We performed genome-wide…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Laura Marcos-Kovandzic, Michele Avagliano, Myriam Ben Khelil et al. · 2025 · Cancer Discovery
This study investigates the clinical relevance of the gut microbiome at taxonomic and metabolic levels in anti-CD19 chimeric antigen receptor (CAR) T-cell therapy, both in patients and in a preclinical syngeneic tumor model. Patients with…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Rodolphe Rougerie, Astrid Cruaud, Pierre Arnal et al. · 2026 · Systematic Biology
Wild silkmoths (Saturniidae) are one of the most emblematic and well-studied families of moths. Yet, the absence of a robust phylogenetic framework based on a comprehensive taxonomic sampling impedes our understanding of their evolutionary…
View details →Negative / Null Result ReportBiochemistry, Genetics and Molecular Biology
April R. Giles, Martin Lock, Shu‐Jen Chen et al. · 2023 · Human Gene Therapy
For successful vector-based gene therapy manufacturing, the selected adeno-associated virus (AAV) vector production system must produce vector at sufficient scale. However, concerns have arisen regarding the quality of vector produced…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Christos Mavrommatis, Daniel W. Belsky, Kejun Ying et al. · 2025 · Nature Communications
Epigenetic Clocks have been trained to predict chronological age, healthspan and lifespan. Such clocks are often analysed in relation to disease outcomes - typically using small datasets and a limited number of clocks. Here, we present a large-scale (n = 18,859), unbiased comparison of 14 widely used clocks as predictors of 174 incident disease outcomes and all-cause mortality over 10-years of follow up. Second- and third-generation clocks significantly outperform first-generation clocks, which have limited applications in disease settings. Of the 176 Bonferroni significant (P 1%. However, the
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Cheng Peng, Martijn den Dekker, Andrés Cárdenas et al. · 2018 · Environmental Health Perspectives
BACKGROUND: Epigenetic variability is hypothesized as a regulatory pathway through which prenatal exposures may influence child development and health. OBJECTIVE: We sought to examine the associations of residential proximity to roadways at birth and epigenome-wide DNA methylation. We also assessed associations of differential methylation with child cognitive outcomes. METHODS: We estimated residential proximity to roadways at birth using a geographic information system (GIS) and cord blood methylation using Illumina's HumanMethylation450-array in 482 mother-child pairs in Project Viva. We ide
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Liza C. Villaruz, Grace Huang, Marjorie Romkes et al. · 2015 · Clinical Epigenetics
BACKGROUND: Carboplatin/paclitaxel (CP), with or without sorafenib, result in objective response rates of 18-20 % in unselected chemotherapy-naïve patients. Molecular predictors of survival and response to CP-based chemotherapy in metastatic melanoma (MM) are critical to improving the therapeutic index. Intergroup trial E2603 randomized MM patients to CP with or without sorafenib. Expression data were collected from pre-treatment formalin-fixed paraffin-embedded (FFPE) tumor tissues from 115 of 823 patients enrolled on E2603. The selected patients were balanced across treatment arms, BRAF stat
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Beau J. Fenner, Jonathan F. Russell, Arlene V. Drack et al. · 2023 · Frontiers in Medicine
Introduction X-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1 . Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene therapy trials have been attempted but none have met their primary endpoints. An improved understanding of XLRS natural history and clinical outcomes may better inform future trials. Here, we report the long-term functional and structural outcomes of XLRS and the relevance of RS1 genotypes to the visual prognosis of affected individuals. Met
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Nathalie Goemans, M. Tulinius, Anna‐Karin Kroksmark et al. · 2016 · Neuromuscular Disorders
Duchenne muscular dystrophy is a rare genetic disorder with life-limiting pathology. Drisapersen induces exon 51 skipping, thereby producing a shorter but functional dystrophin protein. The longest available data are from an open-label…
View details →Negative / Null Result ReportBiochemistry, Genetics and Molecular Biology
Weitao Zhou, Xiaoyong Li, Daochao Huang et al. · 2015 · Current Alzheimer Research
It is reported that 7,8-dihydroxyflavone (DHF), a TrkB agonist, has beneficial effects on neuronal excitotoxicity, stroke, and Parkinson disease in animal models by enhancing axon regeneration, muscle reinnervation and neuromuscular…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Annie Gott, Clare Andrews, María Larriva et al. · 2018 · PeerJ
) found that a marker of biological age predicted the strength of the stress response even in individuals of the same chronological age. Specifically, birds that had experienced greater developmental telomere attrition (DTA) showed a lower peak corticosterone (CORT) response to an acute stressor, and more rapid recovery of CORT levels towards baseline. Here, we performed a follow-up study using the same capture-handling-restraint stressor in a separate cohort of starlings that had been subjected to a developmental manipulation of food availability and begging effort. We measured the CORT respo
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Caroline R. Amendola, William T. Cordell, Colin M. Kneucker et al. · 2023 · Metabolic Engineering
Pseudomonas putida KT2440 is a robust, aromatic catabolic bacterium that has been widely engineered to convert bio-based and waste-based feedstocks to target products. Towards industrial domestication of P. putida KT2440, rational genome…
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
Satoru Taniguchi, Kohei Ninomiya, Itaru Kushima et al. · 2019 · Psychiatry and Clinical Neurosciences
AIMS: Recent studies have revealed that the interplay between polygenic risk scores (PRS) and large copy number variants (CNV; >500kb) is essential for the etiology of schizophrenia (SCZ). To replicate previous findings, including those for smaller CNV (>10kb), the PRS between SCZ patients with and without CNV were compared. METHODS: The PRS were calculated for 724 patients with SCZ and 1178 healthy controls (HC), genotyped using array-based comparative genomic hybridization and single nucleotide polymorphisms chips, and comparisons were made between cases and HC, or between subjects with and
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Luiz Carlos Vieira, Morgan L. Handojo, Claus O. Wilke · 2025 · Scientific Reports
Protein language models (pLMs) can offer deep insights into evolutionary and structural properties of proteins. While larger models, such as the 15 billion parameter model ESM-2, promise to capture more complex patterns in sequence space, they also present practical challenges due to their high dimensionality and high computational cost. We systematically evaluated the performance of various ESM-style models across multiple biological datasets to assess the impact of model size on transfer learning via feature extraction. Surprisingly, we found that larger models do not necessarily outperform
View details →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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 →Negative / Null Result ReportBiochemistry, Genetics and Molecular Biology
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 →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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
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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 →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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
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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 →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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 →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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
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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 →Negative / Null Result ReportOpen accessBiochemistry, Genetics and Molecular Biology
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 →Negative / Null Result ReportBiochemistry, Genetics and Molecular Biology
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…
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