keyword
https://read.qxmd.com/read/38521064/nucleolar-stress-caused-by-arginine-rich-peptides-triggers-a-ribosomopathy-and-accelerates-aging-in-mice
#21
JOURNAL ARTICLE
Oleksandra Sirozh, Anabel Saez-Mas, Bomi Jung, Laura Sanchez-Burgos, Eduardo Zarzuela, Sara Rodrigo-Perez, Ivan Ventoso, Vanesa Lafarga, Oscar Fernandez-Capetillo
Nucleolar stress (NS) has been associated with age-related diseases such as cancer or neurodegeneration. To investigate how NS triggers toxicity, we used (PR)n arginine-rich peptides present in some neurodegenerative diseases as inducers of this perturbation. We here reveal that whereas (PR)n expression leads to a decrease in translation, this occurs concomitant with an accumulation of free ribosomal (r) proteins. Conversely, (PR)n-resistant cells have lower rates of r-protein synthesis, and targeting ribosome biogenesis by mTOR inhibition or MYC depletion alleviates (PR)n toxicity in vitro...
March 11, 2024: Molecular Cell
https://read.qxmd.com/read/38520244/deciphering-mirna-lncrna-mrna-interaction-through-experimental-validation-of-mirnas-lncrnas-and-mirna-targets-on-mrnas-in-cajanus-cajan
#22
JOURNAL ARTICLE
M R Chowdhury, C Chatterjee, D Ghosh, J Mukherjee, S Shaw, J Basak
Pigeon pea (Cajanus cajan) is widely cultivated for its nutritional and medicinal value yet remains an orphan crop as productivity has not been improved because of a lack of genome and non-coding genome information. Non-coding RNAs, like miRNAs and long non-coding RNAs (lncRNAs), are involved in regulation of growth, metabolism, development, and stress response, and have a critical role in post-transcriptional gene regulation (PTGR). We attempted to elucidate the roles of miRNAs and lncRNAs in pigeon pea through experimental validation of computationally predicted miRNAs and lncRNAs and targets of miRNAs on mRNAs...
March 23, 2024: Plant Biology
https://read.qxmd.com/read/38519460/diindoles-produced-from-commensal-microbiota-metabolites-function-as-endogenous-car-nr1i3-ligands
#23
JOURNAL ARTICLE
Jiabao Liu, Ainaz Malekoltojari, Anjana Asokakumar, Vimanda Chow, Linhao Li, Hao Li, Marina Grimaldi, Nathanlown Dang, Jhenielle Campbell, Holly Barrett, Jianxian Sun, William Navarre, Derek Wilson, Hongbing Wang, Sridhar Mani, Patrick Balaguer, Sayeepriyadarshini Anakk, Hui Peng, Henry M Krause
Numerous studies have demonstrated the correlation between human gut bacteria and host physiology, mediated primarily via nuclear receptors (NRs). Despite this body of work, the systematic identification and characterization of microbe-derived ligands that regulate NRs remain a considerable challenge. In this study, we discover a series of diindole molecules produced from commensal bacteria metabolites that act as specific agonists for the orphan constitutive androstane receptor (CAR). Using various biophysical analyses we show that their nanomolar affinities are comparable to those of synthetic CAR agonists, and that they can activate both rodent and human CAR orthologues, which established synthetic agonists cannot...
March 22, 2024: Nature Communications
https://read.qxmd.com/read/38516641/the-status-of-immunization-program-and-challenges-in-ethiopia-a-mixed-method-study
#24
JOURNAL ARTICLE
Tariku Nigatu, Loko Abraham, Herman Willems, Mesfin Tilaye, Firew Tiruneh, Fantay Gebru, Zergu Tafesse, Bezawit Getachew, Mulualem Bulcha, Sami Tewfik, Tadesse Alemu
INTRODUCTION: Immunization helps reduce morbidity and mortality attributable to severe vaccine-preventable childhood illnesses. However, vaccination coverage and the quality of immunization data remain challenging in Ethiopia. This has led to poor planning, suboptimal vaccination coverage, and the resurgence of vaccine-preventable disease outbreaks in under-immunized pocket areas. The problem is further compounded by the occurrence of the COVID-19 pandemic and the disruption of the health information system due to recurrent conflict...
2024: SAGE Open Medicine
https://read.qxmd.com/read/38516137/recent-landscape-and-trends-for-industry-sponsored-pediatric-clinical-trials-in-china-from-2013-to-2022
#25
JOURNAL ARTICLE
Chang Liu, Yi Liu, Ling Ou, Yuenan Qi, Jianmin Zhang
IMPORTANCE: Pediatric medication is a challenging issue globally. Promoting trials of medications for children and implementing measures to encourage innovation for addressing unmet medical and health needs are important. OBJECTIVE: To explore the recent landscape of pediatric clinical trials of new investigational drugs conducted by pharmaceutical enterprises in China from 2013 to 2022 to provide insight into pediatric drug development in the pharmaceutical industry and regulatory policy formulation...
March 2024: Pediatric Investigation
https://read.qxmd.com/read/38515195/clinicopathological-features-and-surgical-procedures-of-adnexal-masses-with-abdominal-pain-in-pediatric-and-adolescent-patients
#26
JOURNAL ARTICLE
Qian Liu, Zhiqiang Li, Huimei Zhou, Dongyan Cao, Jiaxin Yang, Keng Shen, Jinghe Lang
PURPOSE: This study investigated the clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients. Our objective was to better define the clinical presentation of adnexal torsion and to distinguish characteristics of those with torsion and those with an alternate diagnosis. METHODS: Retrospective cohort study of 212 pediatric and adolescent patients was performed who admitted for abdominal pain and presenting with an adnexal mass between March 2012 to December 2019...
March 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38515174/exploring-the-support-needs-of-australian-parents-of-young-children-with-usher-syndrome-a-qualitative-thematic-analysis
#27
JOURNAL ARTICLE
L Johansen, F O'Hare, E R Shepard, L N Ayton, L J Pelenstov, L S Kearns, K L Galvin
BACKGROUND: Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome. The current study investigated the support needs of parents of children with Usher syndrome Type 1 when their child was aged 0 to 5 years...
March 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38515155/correction-to-analysis-of-the-first-ten-years-of-fda-s-rare-pediatric-disease-priority-review-voucher-program-designations-diseases-and-drug-development
#28
Catherine Mease, Kathleen L Miller, Lewis J Fermaglich, Jeanine Best, Gumei Liu, Erika Torjusen
No abstract text is available yet for this article.
March 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38515144/the-impact-survey-a-mixed-methods-study-to-understand-the-experience-of-children-adolescents-and-adults-with-osteogenesis-imperfecta-and-their-caregivers
#29
JOURNAL ARTICLE
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B Bober, Maria Rapoport, Samantha Prince, Frank Rauch
BACKGROUND: Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals' quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects of OI are well studied, others remain poorly understood. Therefore, the IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of OI on individuals with OI, their families, caregivers and wider society. METHODS: We developed an international mixed methods online survey in eight languages (fielded July-September 2021), aimed at adults (aged ≥ 18 years) or adolescents (aged ≥ 12-17 years) with OI, caregivers (with or without OI) of individuals with OI and other close relatives...
March 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38515138/cardiovascular-disease-in-alpha-1-antitrypsin-deficiency-an-observational-study-assessing-the-role-of-neutrophil-proteinase-activity-and-the-suitability-of-validated-screening-tools
#30
JOURNAL ARTICLE
E Sapey, L E Crowley, R G Edgar, D Griffiths, S Samanta, H Crisford, C E Bolton, J R Hurst, R A Stockley
BACKGROUND: Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. These proteinases are associated with cardiovascular disease (CVD) in the general population. It is unclear whether patients with AATD have a greater risk of CVD compared to usual COPD, how best to screen for this, and whether neutrophil proteinases are implicated in AATD-associated CVD...
March 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38514794/the-cb-1-receptor-interacts-with-cereblon-and-drives-cereblon-deficiency-associated-memory-shortfalls
#31
JOURNAL ARTICLE
Carlos Costas-Insua, Alba Hermoso-López, Estefanía Moreno, Carlos Montero-Fernández, Alicia Álvaro-Blázquez, Irene B Maroto, Andrea Sánchez-Ruiz, Rebeca Diez-Alarcia, Cristina Blázquez, Paula Morales, Enric I Canela, Vicent Casadó, Leyre Urigüen, Gertrudis Perea, Luigi Bellocchio, Ignacio Rodríguez-Crespo, Manuel Guzmán
Cereblon/CRBN is a substrate-recognition component of the Cullin4A-DDB1-Roc1 E3 ubiquitin ligase complex. Destabilizing mutations in the human CRBN gene cause a form of autosomal recessive non-syndromic intellectual disability (ARNSID) that is modelled by knocking-out the mouse Crbn gene. A reduction in excitatory neurotransmission has been proposed as an underlying mechanism of the disease. However, the precise factors eliciting this impairment remain mostly unknown. Here we report that CRBN molecules selectively located on glutamatergic neurons are necessary for proper memory function...
March 21, 2024: EMBO Molecular Medicine
https://read.qxmd.com/read/38514505/-totality-of-evidence-approach-in-the-development-of-gp2017-an-approved-adalimumab-biosimilar
#32
REVIEW
Norman Gaylis, Charlotte Both, Lena Lemke, Oliver von Richter, Paul Yamauchi
INTRODUCTION: Hyrimoz® , (GP2017 [SDZ-ADL]), is a biosimilar to Humira® (REF-ADL). SDZ-ADL was approved in 2018 by both the United States Food and Drug Administration (US FDA) and European Medicines Agency (EMA) for the indications of REF-ADL not protected by orphan exclusivity. In 2023, the US FDA and EMA also approved a citrate-free high-concentration formulation (HCF) of SDZ-ADL. TOTALITY OF EVIDENCE-THE APPROACH: Approval of SDZ-ADL was based on data gathered using the US FDA, EMA and World Health Organization (WHO)-recommended step-wise Totality of Evidence approach...
March 21, 2024: Advances in Therapy
https://read.qxmd.com/read/38514303/from-orphan-to-oncogene-the-role-of-gpr35-in-cancer-and-immune-modulation
#33
REVIEW
Simran Takkar, Gunjan Sharma, Jyoti B Kaushal, K M Abdullah, Surinder K Batra, Jawed A Siddiqui
G protein-coupled receptors (GPCRs) are well-studied and the most traceable cell surface receptors for drug discovery. One of the intriguing members of this family is G protein-coupled receptors 35 (GPR35), which belongs to the class A rhodopsin-like family of GPCRs identified over two decades ago. GPR35 presents interesting features such as ubiquitous expression and distinct isoforms. Moreover, functional and genome-wide association studies on its widespread expression have linked GPR35 with pathophysiological disease progression...
March 19, 2024: Cytokine & Growth Factor Reviews
https://read.qxmd.com/read/38512959/retinoid-orphan-receptor-gamma-t-ror%C3%AE-t-promotes-inflammatory-eosinophilia-but-is-dispensable-for-innate-immune-mediated-colitis
#34
JOURNAL ARTICLE
Alvaro Torres-Huerta, Katelyn Ruley-Haase, Theodore Reed, Antonia Boger-May, Derek Rubadeux, Lauren Mayer, Arpitha Mysore Rajashekara, Morgan Hiller, Madeleine Frech, Connor Roncagli, Cameron Pedersen, Mary Catherine Camacho, Lauren Hollmer, Lauren English, Grace Kane, David L Boone
Inflammatory bowel diseases (IBD) result from uncontrolled inflammation in the intestinal mucosa leading to damage and loss of function. Both innate and adaptive immunity contribute to the inflammation of IBD and innate and adaptive immune cells reciprocally activate each other in a forward feedback loop. In order to better understand innate immune contributions to IBD, we developed a model of spontaneous 100% penetrant, early onset colitis that occurs in the absence of adaptive immunity by crossing villin-TNFAIP3 mice to RAG1-/- mice (TRAG mice)...
2024: PloS One
https://read.qxmd.com/read/38507452/orphan-lysosomal-solute-carrier-mfsd1-facilitates-highly-selective-dipeptide-transport
#35
JOURNAL ARTICLE
Danila Boytsov, Gregor M Madej, Georg Horn, Nadine Blaha, Thomas Köcher, Harald H Sitte, Daria Siekhaus, Christine Ziegler, Walter Sandtner, Marko Roblek
Orphan solute carrier (SLC) represents a group of membrane transporters whose exact functions and substrate specificities are not known. Elucidating the function and regulation of orphan SLC transporters is not only crucial for advancing our knowledge of cellular and molecular biology but can potentially lead to the development of new therapeutic strategies. Here, we provide evidence for the biological function of a ubiquitous orphan lysosomal SLC, the Major Facilitator Superfamily Domain-containing Protein 1 (MFSD1), which has remained phylogenetically unassigned...
March 26, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38506007/-assisting-their-orphaned-children-when-in-need
#36
JOURNAL ARTICLE
Trygve Holmøy
No abstract text is available yet for this article.
March 19, 2024: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://read.qxmd.com/read/38504610/a-small-genome-amidst-the-giants-evidence-of-genome-reduction-in-a-small-tubulinid-free-living-amoeba
#37
JOURNAL ARTICLE
Yonas I Tekle, Hanna Tefera
This study investigates the genomic characteristics of Echinamoeba silvestris, a small-sized amoeba within the Tubulinea clade of the Amoebozoa supergroup. Despite Tubulinea's significance in various fields, genomic data for this clade have been scarce. E. silvestris presents the smallest free-living amoeba genome within Tubulinea and Amoebozoa to date. Comparative analysis reveals intriguing parallels with parasitic lineages in terms of genome size and predicted gene numbers, emphasizing the need to understand the consequences of reduced genomes in free-living amoebae...
March 20, 2024: Genome Biology and Evolution
https://read.qxmd.com/read/38504253/patient-reported-impact-of-symptoms-in-adrenoleukodystrophy-prism-ald
#38
JOURNAL ARTICLE
Anika Varma, Jennifer Weinstein, Jamison Seabury, Spencer Rosero, Nuran Dilek, John Heatwole, Charlotte Engebrecht, Shaweta Khosa, Kaitlin Chung, Asif Paker, Amy Woo, Gregory Brooks, Chan Beals, Rohan Gandhi, Chad Heatwole
BACKGROUND: Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other disease-specific factors that collectively contribute to disease burden. To facilitate clinical care and research, it is important to identify which symptoms are most common and relevant to individuals with any subtype of ALD. METHODS: We conducted semi-structured qualitative interviews and an international cross-sectional study to determine the most prevalent and important symptoms of ALD...
March 19, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38504242/biallelic-and-monoallelic-pathogenic-variants-in-cyp24a1-and-slc34a1-genes-cause-idiopathic-infantile-hypercalcemia
#39
JOURNAL ARTICLE
Qiao Wang, Jia-Jia Chen, Li-Ya Wei, Yuan Ding, Min Liu, Wen-Jing Li, Chang Su, Chun-Xiu Gong
OBJECTIVE: Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and molecular aspects of six new Chinese patients were investigated. METHODS: The clinical manifestations and laboratory study of six patients with idiopathic infantile hypercalcemia were analyzed retrospectively. RESULTS: Five of the patients were diagnosed with hypercalcemia, hypercalciuria, and bilateral medullary nephrocalcinosis...
March 19, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38503792/dataset-on-the-effects-of-psychological-care-on-depression-and-suicide-ideation-in-underrepresented-children
#40
JOURNAL ARTICLE
Xuerong Liu, Wei Li, Jie Gong, Qianyu Zhang, Xiaobing Tian, Ji-Dong Ren, Lei Xia, Yanyan Li, Yu Zhan, Jing-Xuan Zhang, Hu Chuan-Peng, Ji Chen, Zhengzhi Feng, Zhiyi Chen
Massive increases in the risks of depressive disorders and the ensuing suicide have become the overarching menace for children/adolescents. Despite global consensus to instigate psychological healthcare policy for these children/adolescents, their effects remain largely unclear neither from a small amount of official data nor from small-scale scientific studies. More importantly, in underprivileged children/adolescents in lower-middle-economic-status countries/areas, the data collection may not be as equally accessible as in developed countries/areas, thus resulting in underrepresented observations...
March 19, 2024: Scientific Data
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