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Lisa L Hall, Kevin M Creamer, Meg Byron, Jeanne B Lawrence
The linear DNA sequence of mammalian chromosomes is organized in large blocks of DNA with similar sequence properties, producing a pattern of dark and light staining bands on mitotic chromosomes. Cytogenetic banding is essentially invariant between people and cell-types and thus may be assumed unrelated to genome regulation. We investigate whether large blocks of Alu-rich R-bands and L1-rich G-bands provide a framework upon which functional genome architecture is built. We examine two models of large-scale chromatin condensation: X-chromosome inactivation and formation of senescence-associated heterochromatin foci (SAHFs)...
January 9, 2024: bioRxiv
#22
JOURNAL ARTICLE
Kellen Gandy, Lacey Hall, Kevin R Krull, Anna J Esbensen, Jeffrey Rubnitz, Lisa M Jacola
OBJECTIVE: The primary aim of this study was to assess the feasibility of a developmentally tailored neurocognitive assessment in survivors of childhood acute leukemia with Down syndrome (DS-leukemia). A secondary aim was to compare outcomes in the DS-leukemia group to a historical comparison group of individuals with DS and no history of childhood cancer. METHODS: Survivors of DS-leukemia (n = 43; 56% male, mean [SD] age at diagnosis = 4...
January 19, 2024: Cancer Medicine
#23
JOURNAL ARTICLE
Anna C Ortega, Jerod A Merkle, Hall Sawyer, Kevin L Monteith, Patrick Lionberger, Miguel Valdez, Matthew J Kauffman
Growing evidence supports the hypothesis that temperate herbivores surf the green wave of emerging plants during spring migration. Despite the importance of autumn migration, few studies have conceptualized resource tracking of temperate herbivores during this critical season. We adapted the frost wave hypothesis (FWH), which posits that animals pace their autumn migration to reduce exposure to snow but increase acquisition of forage. We tested the FWH in a population of mule deer in Wyoming, USA by tracking the autumn migrations of n = 163 mule deer that moved 15-288 km from summer to winter range...
January 11, 2024: Ecology
#24
REVIEW
Prangthip Charoenpong, Nicole M Hall, Courtney M Keller, Anil Kumar Ram, Kevin S Murnane, Nicholas E Goeders, Navneet Kaur Dhillon, Robert E Walter
TOPIC IMPORTANCE: The global surge in methamphetamine (MA) use is a critical public health concern, particularly due to its robust correlation with MA-associated pulmonary arterial hypertension (MA-PAH). This association raises urgent alarms about the potential escalation of MA-PAH incidence, posing a significant and imminent challenge to global public health. REVIEW FINDINGS: This comprehensive review meticulously explores MA-PAH, offering insights into its epidemiology, pathophysiology, clinical presentation, diagnostic intricacies, and management strategies...
January 9, 2024: Chest
#25
JOURNAL ARTICLE
Bradley Hall, John N Milligan, Kevin Kelnar, Elliot Hallmark, Jacob D Ashton, Connor A Parker, Stela Filipovic-Sadic, Abigail Sharp, Samantha Eagle, Nissa Rodgers, Marco Leung, Mariam T Mathew, Luke Grissom, Rebecca Post, Nataša Teran, Gary J Latham
CONTEXT.—: Existing targeted cystic fibrosis screening assays miss important pathogenic CFTR variants in the ethnically diverse US population. OBJECTIVE.—: To evaluate the analytic performance of a multiplex polymerase chain reaction (PCR)/capillary electrophoresis (CE) CFTR assay panel that simultaneously interrogates primary pathogenic variants of different ethnic/ancestral groups. DESIGN.—: Performance characteristic assessment and variant coverage comparison of the panel with a focus on ethnicity-specific CFTR variants were performed...
January 8, 2024: Archives of Pathology & Laboratory Medicine
#26
JOURNAL ARTICLE
Christopher G Thomson, Kelly Boss, Amy Calhoun, Cary Fridrich, Kevin M Gardinier, Edward C Hall, Keith Jendza, Louise Kirman, Nancy Labbé-Giguere, Kurt Laumen, Ming Qian, Sanjit Sanyal, Michael D Shultz, Radka Snajdrova, Kian Tan, Kate Yaping Wang, Fan Yang, Feng Gao, Tao Hong, Elena Dale, Brent Kuzmiski, Danny Ortuno, Daniel S Palacios
We have developed a chiral route toward the synthesis of muscarinic M4 agonists that was enabled by the biocatalytic synthesis of the key spirocyclic diamine building blocks 10 and 12 . Using these bifunctional compounds we were able to optimize a synthetic sequence toward a collection of advanced intermediates for further elaboration. These advanced intermediates were then used as starting points for early medicinal chemistry and the identification of selective M1/M4 agonists.
December 14, 2023: ACS Medicinal Chemistry Letters
#27
JOURNAL ARTICLE
Kevin Gildea, Daniel Hall, Clara Mercadal-Baudart, Brian Caulfield, Ciaran Simms
INTRODUCTION: Single Bicycle Brashes (SBCs) are common, and underreported in official statistics. In urban environments, light rail tram tracks are a frequent factor, however, they have not yet been the subject of engineering analysis. METHOD: This study employs video-based analysis at nine Dublin city centre locations and introduces a predictive model for crossing success on tram tracks, utilising cyclist crossing angles within a Surrogate Measure of Safety (SMoS) framework...
December 2023: Journal of Safety Research
#28
Kevin D Hall
OBJECTIVE: To investigate why different weight loss interventions result in varying durations of weight loss prior to approaching plateaus. METHODS: A validated mathematical model of energy balance and body composition dynamics was used to simulate mean weight loss trajectories in response to intensive calorie restriction, semaglutide 2.4 mg, tirzepatide 10 mg, and Roux en-Y gastric bypass (RYGB) surgery interventions. Each intervention was simulated by varying two model parameters affecting energy intake to fit the observed mean weight loss data...
November 5, 2023: bioRxiv
#29
JOURNAL ARTICLE
Prangthip Charoenpong, Navneet Dhillon, Kevin Murnane, Nicholas Goeders, Nicole Hall, Courtney Keller, Mohammad Alfrad Nobel Bhuiyan, Robert Walter
OBJECTIVE: This study compares the clinical and haemodynamic severity of methamphetamine-associated pulmonary arterial hypertension (MA-PAH) with idiopathic pulmonary arterial hypertension (IPAH) and connective tissue-associated pulmonary arterial hypertension (CTD-PAH). It also examines sex differences in clinical and physiological parameters among those with MA-PAH. DESIGN: This is a cross-sectional study using clinically derived data from the National Biological Sample and Data Repository for Pulmonary Arterial Hypertension (PAH biobank), a US-based registry, to compare clinical and physiological characteristics between males and females with MA-PAH...
December 7, 2023: BMJ Open Respiratory Research
#30
JOURNAL ARTICLE
Matteo Lambertini, Eva Blondeaux, Elisa Agostinetto, Anne-Sophie Hamy, Hee Jeong Kim, Antonio Di Meglio, Rinat Bernstein Molho, Florentine Hilbers, Katarzyna Pogoda, Estela Carrasco, Kevin Punie, Jyoti Bajpai, Michail Ignatiadis, Halle C F Moore, Kelly-Anne Phillips, Angela Toss, Christine Rousset-Jablonski, Fedro A Peccatori, Tiphaine Renaud, Alberta Ferrari, Shani Paluch-Shimon, Robert Fruscio, Wanda Cui, Stephanie M Wong, Claudio Vernieri, Kathryn J Ruddy, Maria Vittoria Dieci, Alexios Matikas, Mariya Rozenblit, Cynthia Villarreal-Garza, Laura De Marchis, Lucia Del Mastro, Fabio Puglisi, Maria Del Pilar Estevez-Diz, Kenny A Rodriguez-Wallberg, Bela Mrinakova, Sarah Meister, Luca Livraghi, Florian Clatot, Rinat Yerushalmi, Carmine De Angelis, Rodrigo Sánchez-Bayona, Icro Meattini, Natalia Cichowska-Cwalinska, Martine Berlière, Mahmoud Salama, Ugo De Giorgi, Amir Sonnenblick, Camila Chiodi, Young-Jin Lee, Camille Maria, Hatem A Azim, Luca Boni, Ann H Partridge
IMPORTANCE: Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy in breast cancer survivors included limited data regarding BRCA carriers. OBJECTIVE: To investigate cumulative incidence of pregnancy and disease-free survival in young women who are BRCA carriers. DESIGN, SETTING, AND PARTICIPANTS: International, multicenter, hospital-based, retrospective cohort study conducted at 78 participating centers worldwide...
December 7, 2023: JAMA
#31
JOURNAL ARTICLE
Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, Jose Campos Parada, Shipra Bhatia, Jeffrey Joseph, Simon Holden, Trine E Prescott, Pierre Bitoun, Edwin P Kirk, Ruth Newbury-Ecob, Katherine Lachlan, Juan Bernar, Veronica van Heyningen, David R FitzPatrick, Alison Meynert
BACKGROUND: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the PAX6 locus. METHODS: Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the PAX6 coding region...
November 30, 2023: Journal of Medical Genetics
#32
JOURNAL ARTICLE
Carina A Dehner, Jorge Torres-Mora, Sounak Gupta, Benjamin R Kipp, Kevin C Halling, Shaoxiong Chen, Laura M Warmke, Michael Michal, Ali Alani, Wendong Yu, Krisztian Kovacs, Farres Obeidin, Obiajulu Hans Iwenofu, Swati Satturwar, Jeanne M Meis, Andrew L Folpe
Soft tissue sarcomas harboring EWSR1::PATZ1 are a recently recognized entity with variable morphology and a heterogeneous immunohistochemical profile. We studied 17 such tumors. The tumors occurred in 12 men and 5 women (median age, 50 years; range, 15-71 years), involved the thoracoabdominal soft tissues (14 cases; 82%), lower extremities (2 cases; 12%), and tongue (1 case; 6%), and ranged from 0.7 to 11.3 cm (median, 4.7 cm). All but 1 patient received complete surgical resection; 7 were also treated with neoadjuvant chemo/radiotherapy...
February 2024: Modern Pathology
#33
JOURNAL ARTICLE
Douglas A Keller, Arianna Bassan, Alexander Amberg, Leigh Ann Burns Naas, Jon Chambers, Kevin Cross, Frances Hall, Gloria D Jahnke, Amarjit Luniwal, Serena Manganelli, Jordi Mestres, Amy L Mihalchik-Burhans, David Woolley, Raymond R Tice
In silico toxicology protocols are meant to support computationally-based assessments using principles that ensure that results can be generated, recorded, communicated, archived, and then evaluated in a uniform, consistent, and reproducible manner. We investigated the availability of in silico models to predict the carcinogenic potential of pregabalin using the ten key characteristics of carcinogens as a framework for organizing mechanistic studies. Pregabalin is a single-species carcinogen producing only one type of tumor, hemangiosarcomas in mice via a nongenotoxic mechanism...
2023: Frontiers in toxicology
#34
JOURNAL ARTICLE
Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Patel
BACKGROUND: Whole genome sequencing (WGS) from large clinically unselected cohorts provides a unique opportunity to assess the penetrance and expressivity of rare and/or known pathogenic mitochondrial variants in population. METHOD: Using WGS from 179 862 clinically unselected individuals from the UK Biobank, we performed extensive single and rare variant aggregation association analyses of 15 881 mtDNA variants and 73 known pathogenic variants with 15 mitochondrial disease-relevant phenotypes...
November 21, 2023: Human Molecular Genetics
#35
Christina M Sciarrillo, Juen Guo, Aaron Hengist, Valerie L Darcey, Kevin D Hall
BACKGROUND: Crossover studies can induce order effects, especially when they lack a wash-out period. OBJECTIVE: To explore diet order effects on energy balance and food intake between randomized diet order groups in two inpatient crossover studies originally designed to compare within-subject differences in ad libitum energy intake between either minimally processed low carbohydrate (LC) versus low fat (LF) diets or macronutrient-matched diets composed of mostly minimally processed food (MPF) or ultra-processed food (UPF)...
October 4, 2023: medRxiv
#36
JOURNAL ARTICLE
Donghan M Yang, Qinbo Zhou, Lauren Furman-Cline, Xian Cheng, Danni Luo, Hongyin Lai, Yueqi Li, Kevin W Jin, Bo Yao, Patrick J Leavey, Dinesh Rakheja, Tammy Lo, David Hall, Donald A Barkauskas, David S Shulman, Katherine Janeway, Chand Khanna, Richard Gorlick, Christopher Menzies, Xiaowei Zhan, Guanghua Xiao, Stephen X Skapek, Lin Xu, Laura J Klesse, Brian D Crompton, Yang Xie
PURPOSE: Osteosarcoma research advancement requires enhanced data integration across different modalities and sources. Current osteosarcoma research, encompassing clinical, genomic, protein, and tissue imaging data, is hindered by the siloed landscape of data generation and storage. MATERIALS AND METHODS: Clinical, molecular profiling, and tissue imaging data for 573 patients with pediatric osteosarcoma were collected from four public and institutional sources. A common data model incorporating standardized terminology was created to facilitate the transformation, integration, and load of source data into a relational database...
September 2023: JCO Clinical Cancer Informatics
#37
JOURNAL ARTICLE
Prince K Verma, Connor A Koellner, Hailey Hall, Meagan R Phister, Kevin H Stone, Asa W Nichols, Ankit Dhakal, Earl Ashcraft, Charles W Machan, Gaurav Giri
Solution shearing, a meniscus-guided coating process, can create large-area metal-organic framework (MOF) thin films rapidly, which can lead to the formation of uniform membranes for separations or thin films for sensing and catalysis applications. Although previous work has shown that solution shearing can render MOF thin films, examples have been limited to a few prototypical systems, such as HKUST-1, Cu-HHTP, and UiO-66. Here, we expand on the applicability of solution shearing by making thin films of NU-901, a zirconium-based MOF...
November 13, 2023: ACS Applied Materials & Interfaces
#38
JOURNAL ARTICLE
See-Chi Lee, Nenavath Gopal Naik, Dóra Tombácz, Gábor Gulyás, Balázs Kakuk, Zsolt Boldogkői, Kevin Hall, Bernadett Papp, Steeve Boulant, Zsolt Toth
The impact of different stress conditions on the oncogenic Kaposi's sarcoma-associated herpesvirus (KSHV) primary infection that can occur in vivo remains largely unknown. We hypothesized that KSHV can establish a latency or lytic cycle following de novo infection, depending on the conditions of the cellular environment. Previous studies showed that hypoxia is a natural stress condition that promotes lytic reactivation and contributes to KSHV pathogenesis, but its effect on de novo KSHV infection is unknown...
November 1, 2023: Journal of Virology
#39
Valerie L Darcey, Juen Guo, Meible Chi, Stephanie T Chung, Amber B Courville, Isabelle Gallagher, Peter Herscovitch, Rebecca Howard, Melissa LaNoire, Lauren Milley, Alex Schick, Michael Stagliano, Sara Turner, Nicholas Urbanski, Shanna Yang, Eunha Yim, Nan Zhai, Megan S Zhou, Kevin D Hall
The relationship between adiposity and dopamine type-2 receptor binding potential (D2BP) in the human brain has been repeatedly studied for >20 years with highly discrepant results, likely due to variable methodologies and differing study populations. We conducted a controlled inpatient feeding study to measure D2BP in the striatum using positron emission tomography with both [ 18 F]fallypride and [ 11 C]raclopride in pseudo-random order in 54 young adults with a wide range of body mass index (BMI 20-44 kg/m 2 )...
September 28, 2023: medRxiv
#40
Marc D Ryser, Matthew A Greenwald, Inmaculada C Sorribes, Lorraine M King, Allison Hall, Joseph Geradts, Donald L Weaver, Diego Mallo, Shannon Holloway, Daniel Monyak, Graham Gumbert, Shariar Vaez-Ghaemi, Ethan Wu, Kevin Murgas, Lars J Grimm, Carlo C Maley, Jeffrey R Marks, Darryl Shibata, E Shelley Hwang
Ductal carcinoma in situ (DCIS) and invasive breast cancer share many morphologic, proteomic, and genomic alterations. Yet in contrast to invasive cancer, many DCIS tumors do not progress and may remain indolent over decades. To better understand the heterogenous nature of this disease, we reconstructed the growth dynamics of 18 DCIS tumors based on the geo-spatial distribution of their somatic mutations. The somatic mutation topographies revealed that DCIS is multiclonal and consists of spatially discontinuous subclonal lesions...
October 2, 2023: bioRxiv
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