Digital Commons Network^™

The Impetus Of International Security In European Integration: The Nature Of Eu Common Security And Defense Policy, Osman Goktug Tanrikulu

Dissertations and Theses

This study explores the complicated relationship between security considerations and the European integration process. The research uncovers specific security factors that have shaped the EU integration process. Applying policy alignment and collective efforts for governance, this study offers a methodological improvement to the conventional status quo satisfaction concept within power transition theory.

Findings indicate that external militarized actions targeting European nations only occasionally disrupted integration in the short term. Instead, inner coordination among member states vis-à-vis external actors, promoted integration. During the early stages of integration, alignment with the EU collective was crucial, while aligning with regional leader Germany became …

Real-Time Label-Free Ai-Enhanced Digital Histopathology Using Slam Microscopy, Stephen Boppart

Advances in Optics for Biotechnology, Medicine and Surgery XVII [2023]

Please click Additional Files below to see the full abstract.

Macrocephaly And Developmental Delay Caused By Missense Variants In Rab5c, Klaas Koop, Weimin Yuan, Bo Zhang, Zachary D Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A Silverman, Stephen C Pak, Tim Schedl, Et Al.

2020-Current year OA Pubs

Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical …

Perinatal Women's Perspectives Of, And Engagement In, Digital Emotional Well-Being Training: Mixed Methods Study, Jacqueline A. Davis, Jeneva L. Ohan, Sonia Gregory, Keerthi Kottampally, Desiree Silva, Susan L. Prescott, Amy L. Finlay-Jones

Research outputs 2022 to 2026

BACKGROUND: Psychological distress in the early postpartum period can have long-lasting deleterious effects on a mother's well-being and negatively affect her infant's development. Intervention approaches based in contemplative practices such as mindfulness and loving-kindness and compassion are intended to alleviate distress and cultivate well-being and can be delivered effectively as digital mental health interventions (DMHIs). OBJECTIVE: To understand the feasibility of engaging perinatal women in digital interventions, this study aimed to document participants' experiences in the Mums Minds Matter (MMM) study, a pilot randomized controlled trial comparing mindfulness, loving-kindness and compassion, and progressive muscle relaxation training delivered in a digital …

Effect Of Exogenous Melatonin On Metabolic Profile And Reproductive Performance In Undernourished Suckling Merino Ewes In The Early Postpartum Period, Bariş Güner, Buse Öztürk, Aslihan Ayalp, İhsan Kisadere, Nevzat Saat, Muhi̇tti̇n Zengi̇n, Recai̇ Kulaksiz, Şükrü Meti̇n Pancarci

Turkish Journal of Veterinary & Animal Sciences

This study aimed to determine whether serum metabolite and hormones of ewes with low body condition scores subjected to the melatonin plus progesterone-based protocol (MPE) would be similar to a single progesterone-based protocol (PE) and whether melatonin ear implant supplementation could increase pregnancy rate. Ninety suckled Merino ewes with singleton lamb were equally allocated in two experimental groups (MPE, PE) and a control group (CON) on days 53 ± 3 (D0) postpartum. Ewes in MPE group were subjected to exogenous melatonin plus progesterone-based protocol [Melatonin (day 0) + P4 insertion (day 35) + 500 IU eCG (day 42)]. Ewes in …

Evaluation Of The Effects Of Ghrelin And Metformin On Sperm Parameters, Testosterone Hormones, And Immunohistochemical And Immunofluorescent Markers In An Experimental Diabetes Model, Saadet Belhan, Zübeyi̇r Huyut, Serkan Yildirim, Özlem Ergül Erkeç, Uğur Özdek

Turkish Journal of Veterinary & Animal Sciences

Testicular dysfunction, a severe secondary complication of diabetes, negatively affects reproductive health. Ghrelin is a peptide that plays a role in many metabolic events, such as stimulating growth hormones and regulating appetite, blood pressure, and reproduction. Metformin has antiinflammatory and antioxidant properties and is widely used to treat type 2 diabetes. Therefore, in this study, to investigate the effects of ghrelin and metformin on testicular function in experimental diabetic rats given streptozotocin, placed on a high-fat diet, and that had their sperm parameters evaluated, testosterone hormone, caspase 3 and iNOS expression, and histopathological examinations were performed. In total, 38 Wistar …

In Vitro Determination Of The Anthelmintic Potential Of Arum Rupicola Boiss Var. Rupicola, Tuğrul Atalay, Kader Yildiz

Turkish Journal of Veterinary & Animal Sciences

Arum rupicola Boiss var. rupicola is a preferred ingredient in traditional medicine in various countries, including Türkiye. The current study aims to establish the antiparasitic effect of A. rupicola Boiss var. rupicola on the eggs and larvae of T. canis in vitro. An ovicidal effect was not detected in the plant extracts, and embryogenesis in the T. canis eggs was not affected by the leaves' ethanolic extract and the distilled water extract of the rhizome during the incubation periods (6, 12, and 24 h). The larvicidal activity was observed in both extracts on the T. canis larvae after hatching. All …

Repurposing The Fda-Approved Anthelmintic Pyrvinium Pamoate For Pancreatic Cancer Treatment: Study Protocol For A Phase I Clinical Trial In Early-Stage Pancreatic Ductal Adenocarcinoma, Francesca M. Ponzini, Christopher W. Schultz, Benjamin E. Leiby, Shawnna Cannaday, T. Yeo, James Posey, Wilbur B. Bowne, Charles Yeo, Jonathan R. Brody, Harish Lavu, Avinoam Nevler

Department of Surgery Faculty Papers

BACKGROUND: Recent reports of the utilisation of pyrvinium pamoate (PP), an FDA-approved anti-helminth, have shown that it inhibits pancreatic ductal adenocarcinoma (PDAC) cell growth and proliferation in-vitro and in-vivo in preclinical models. Here, we report about an ongoing phase I open-label, single-arm, dose escalation clinical trial to determine the safety and tolerability of PP in PDAC surgical candidates.

METHODS AND ANALYSIS: In a 3+3 dose design, PP is initiated 3 days prior to surgery. The first three patients will be treated with the initial dose of PP at 5 mg/kg orally for 3 days prior to surgery. Dose doubling will …

Depression By Gender And Associated Factors Among Older Adults In India: Implications For Age-Friendly Policies, Ronak Paul, T. Muhammad, Rashmi Rashmi, Palak Sharma, Shobhit Srivastava, Preeti Zanwar

College of Population Health Faculty Papers

Inspite of implementing policies to control mental health problems, depression remains a severe health concern among older adults in India. We examined self-reported differences in the depression among older men and women in India and examined associated factors for gender differences in depression at the population level. We utilized nationally representative data from the Longitudinal Aging Study in India (LASI) wave I, for years 2017-2019. Our analytical sample comprised of 30,637 older adults ages 60 years and above (14,682 men and 15,655 women). We conducted descriptive statistics and Chi-Square tests followed by binary logistic regression and multivariate decomposition analyses to …

Biomembrane-Based Memcapacitive Reservoir Computing System For Energy-Efficient Temporal Data Processing, Md Razuan Hossain, Ahmed S. Mohamed, Nicholas X. Armendarez, Joseph S. Najem, Md Sakib Hasan

Faculty and Student Publications

Reservoir computing is a highly efficient machine learning framework for processing temporal data by extracting input features and mapping them into higher dimensional spaces. Physical reservoirs have been realized using spintronic oscillators, atomic switch networks, volatile memristors, etc. However, these devices are intrinsically energy-dissipative due to their resistive nature, increasing their power consumption. Therefore, memcapacitive devices can provide a more energy-efficient approach. Herein, volatile biomembrane-based memcapacitors are leveraged as reservoirs to solve classification tasks and process time series in simulation and experimentally. This system achieves a 99.6% accuracy for spoken-digit classification and a normalized mean square error of 7.81×10−4$7.81 \times …

Endogenous Renal Adiponectin Drives Gluconeogenesis Through Enhancing Pyruvate And Fatty Acid Utilization, Toshiharu Onodera, May-Yun Wang, Joseph M Rutkowski, Stanislaw Deja, Shiuhwei Chen, Michael S Balzer, Dae-Seok Kim, Xuenan Sun, Yu A An, Bianca C Field, Charlotte Lee, Ei-Ichi Matsuo, Monika Mizerska, Ina Sanjana, Naoto Fujiwara, Christine M Kusminski, Ruth Gordillo, Laurent Gautron, Denise K Marciano, Ming Chang Hu, Shawn C Burgess, Katalin Susztak, Orson W Moe, Philipp E Scherer

Faculty, Staff and Student Publications

Adiponectin is a secretory protein, primarily produced in adipocytes. However, low but detectable expression of adiponectin can be observed in cell types beyond adipocytes, particularly in kidney tubular cells, but its local renal role is unknown. We assessed the impact of renal adiponectin by utilizing male inducible kidney tubular cell-specific adiponectin overexpression or knockout mice. Kidney-specific adiponectin overexpression induces a doubling of phosphoenolpyruvate carboxylase expression and enhanced pyruvate-mediated glucose production, tricarboxylic acid cycle intermediates and an upregulation of fatty acid oxidation (FAO). Inhibition of FAO reduces the adiponectin-induced enhancement of glucose production, highlighting the role of FAO in the induction …

Finalizing The Final Rule: Why The Fdca Requires Safe Harbors, Kelly Reynolds

Seton Hall Journal of Legislation and Public Policy

No abstract provided.

Elementos Constitutivos De Los Juegos De Rol: Una Revisión Sistemática De La Literatura [Bjb], Cristo León, Marcos O. Cabobianco

STEM for Success Resources

All rights reserved 2023 Brazilian Journals Publicações de Periódicos e Editora Ltda

Hospederos Y Patrones De Prevalencia De Parásitos Aviares Philornis (Diptera: Muscidae) En La Costa De Ecuador, María L. Rojas Allieri, Birgit Fessl, Carlos Iván Espinoza, Félix Hernán Vargas, Leonardo Ordóñez-Delgado

Neotropical Biodiversity

No abstract provided.

Clinical Characteristics, Racial Inequities, And Outcomes In Patients With Breast Cancer And Covid-19: A Covid-19 And Cancer Consortium (Ccc19) Cohort Study, Gayathri Nagaraj, Shaveta Vinayak, Ali Raza Khaki, Tianyi Sun, Nicole M. Kuderer, David M. Aboulafia, Jared D. Acoba, Joy Awosika, Ziad Bakouny, Nicole B. Balmaceda, Ting Bao, Babar Bashir, Stephanie Berg, Mehmet A. Bilen, Poorva Bindal, Sibel Blau, Brianne E. Bodin, Hala T. Borno, Cecilia Castellano, Horyun Choi, John Deeken, Aakash Desai, Natasha Edwin, Lawrence E. Feldman, Daniel B. Flora, Christopher R. Friese, Matthew D. Galsky, Cyndi J. Gonzalez, Petros Grivas, Shilpa Gupta, Marcy Haynam, Hannah Heilman, Dawn L. Hershman, Clara Hwang, Chinmay Jani, Sachin R. Jhawar, Monika Joshi, Virginia Kaklamani, Elizabeth J. Klein, Natalie Knox, Vadim S. Koshkin, Amit A. Kulkarni, Daniel H. Kwon, Chris Labaki, Philip E. Lammers, Kate I. Lathrop, Mark A. Lewis, Xuanyi Li, Gilbert De Lima Lopes, Gary H. Lyman, Della F. Makower, Abdul-Hai Mansoor, Merry-Jennifer Markham, Sandeep H. Mashru, Rana R. Mckay, Ian Messing, Vasil Mico, Rajani Nadkarni, Swathi Namburi, Ryan H. Nguyen, Taylor Kristian Nonato, Tracey Lynn O'Connor, Orestis A. Panagiotou, Kyu Park, Jaymin M. Patel, Kanishka Gopikabimal Patel, Jeffrey Peppercorn, Hyma Polimera, Matthew Puc, Yuan James Rao, Pedram Razavi, Sonya A. Reid, Jonathan W. Riess, Donna R. Rivera, Mark Robson, Suzanne J. Rose, Atlantis D. Russ, Lidia Schapira, Pankil K. Shah, M Kelly Shanahan, Lauren C. Shapiro, Melissa Smits, Daniel G. Stover, Mitrianna Streckfuss, Lisa Tachiki, Michael A. Thompson, Sara M. Tolaney, Lisa B. Weissmann, Grace Wilson, Michael T. Wotman, Elizabeth M. Wulff-Burchfield, Sanjay Mishra, Benjamin French, Jeremy L. Warner, Maryam B. Lustberg, Melissa K. Accordino, Dimpy P. Shah

Department of Medical Oncology Faculty Papers

BACKGROUND: Limited information is available for patients with breast cancer (BC) and coronavirus disease 2019 (COVID-19), especially among underrepresented racial/ethnic populations.

METHODS: This is a COVID-19 and Cancer Consortium (CCC19) registry-based retrospective cohort study of females with active or history of BC and laboratory-confirmed severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection diagnosed between March 2020 and June 2021 in the US. Primary outcome was COVID-19 severity measured on a five-level ordinal scale, including none of the following complications, hospitalization, intensive care unit admission, mechanical ventilation, and all-cause mortality. Multivariable ordinal logistic regression model identified characteristics associated with COVID-19 severity.

RESULTS: …

Thermodynamic Frustration Of Tad2 And Prr Contribute To Autoinhibition Of P53, Emily Gregory

USF Tampa Graduate Theses and Dissertations

The intrinsically disordered transcription factor and tumor suppressor p53 binds to promoter response element DNA upon cellular stress and activates genes associated with cell cycle arrest, senescence, and apoptosis. Disruption of sequence specific binding to target gene promoters is heavily implicated in human health, where a majority of cancers contain mutations localized to the DNA binding domain (DBD) of p53. p53 DNA binding is regulated by posttranslational modifications, associations with cellular factors, and by an autoinhibitory intramolecular interaction. The autoinhibitory intramolecular interaction occurs when the disordered N-terminal transactivation domain (TAD) interacts with the ordered DBD. Previous work in the Daughdrill …

The Hidden Withdrawal Epidemic Of Cymbalta (Duloxetine): The Inequities Of The Learned Intermediary Doctrine In Cymbalta Litigation And The Necessity Of An Fda Re-Evaluation, Melanie Filocco

Seton Hall Journal of Legislation and Public Policy

No abstract provided.

Impairment Of Serine Transport Across The Blood-Brain Barrier By Deletion Of Slc38a5 Causes Developmental Delay And Motor Dysfunction, Inna Radzishevsky, Maali Odeh, Oded Bodner, Salman Zubedat, Lihi Shaulov, Maxim Litvak, Kayoko Esaki, Takeo Yoshikawa, Bella Agranovich, Wen-Hong Li, Alex Radzishevsky, Eyal Gottlieb, Avi Avital, Herman Wolosker

Faculty, Staff and Student Publications

Brain L-serine is critical for neurodevelopment and is thought to be synthesized solely from glucose. In contrast, we found that the influx of L-serine across the blood-brain barrier (BBB) is essential for brain development. We identified the endothelial Slc38a5, previously thought to be a glutamine transporter, as an L-serine transporter expressed at the BBB in early postnatal life. Young Slc38a5 knockout (KO) mice exhibit developmental alterations and a decrease in brain L-serine and D-serine, without changes in serum or liver amino acids. Slc38a5-KO brains exhibit accumulation of neurotoxic deoxysphingolipids, synaptic and mitochondrial abnormalities, and decreased neurogenesis at the dentate gyrus. …

Oncolytic Virus M1 Functions As A Bifunctional Checkpoint Inhibitor To Enhance The Antitumor Activity Of Dc Vaccine, Jia Dan, Jing Cai, Yingqian Zhong, Chaoqun Wang, Shanyu Huang, Ying Zeng, Zhen Fan, Cuiying Xu, Linyi Hu, Jiayu Zhang, Jun Hu, Ying Liu, Xingwen Su, Wenbo Zhu, Guangmei Yan, Jiankai Liang, Yuan Lin

Faculty, Staff and Student Publications

Although promising, dendritic cell (DC) vaccines still provide limited clinical benefits, mainly due to the immunosuppressive tumor microenvironment (TME) and the lack of tumor-associated antigens (TAAs). Oncolytic virus therapy is an ideal strategy to overcome immunosuppression and expose TAAs; therefore, they may work synergistically with DC vaccines. In this study, we demonstrate that oncolytic virus M1 (OVM) can enhance the antitumor effects of DC vaccines across diverse syngeneic mouse tumor models by increasing the infiltration of CD8+ effector T cells in the TME. Mechanically, we show that tumor cells counteract DC vaccines through the SIRPα-CD47 immune checkpoint, while OVM can …

Isospectral Intermediates In The Photochemical Reaction Cycle Of Anion Channelrhodopsin Gtacr1, Pamela Schleissner, Istvan Szundi, Eefei Chen, Hai Li, John L Spudich, David S Kliger

Faculty, Staff and Student Publications

The most effective tested optogenetic tools available for neuronal silencing are the light-gated anion channel proteins found in the cryptophyte alga Guillardia theta (GtACRs). Molecular mechanisms of GtACRs, including the photointermediates responsible for the open channel state, are of great interest for understanding their exceptional conductance. In this study, the photoreactions of GtACR1 and its D234N, A75E, and S97E mutants were investigated using multichannel time-resolved absorption spectroscopy. For each of the proteins, the analysis showed two early microsecond transitions between K-like and L-like forms and two late millisecond recovery steps. Spectral forms associated with potential molecular intermediates of the proteins …

Macrocephaly And Developmental Delay Caused By Missense Variants In Rab5c., Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafal Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A. Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph Alaimo, Catherine Helbig, Colin A. Ellis, Clare Van Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose Van Den Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D. Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A. Silverman, Barth D. Grant, David Raizen, Undiagnosed Diseases Network;, Gijs Van Haaften, Stephen C. Pak, Holger Rehmann, Tim Schedl, Peter Van Hasselt

Manuscripts, Articles, Book Chapters and Other Papers

Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical …

Teacher Candidates’ Conceptions And Practices Of Computational Thinking For Equity, Heather F. Clark, Symone A. Gyles, Imelda Nava-Landeros

Journal of Computer Science Integration

This study documents novice science and math teachers’ developing pedagogical approaches to integrating computational thinking (CT) and data into their courses to support educational equity and social justice. The 10 novice teacher candidates (TCs) studied were part of an urban teacher residency program that empowered them with an asset-based pedagogy we describe as “CT for Equity.” Drawing on coursework and interviews as data, we asked three questions: What are teachers’ conceptions of CT? What are their CT instructional practices? And how did their students respond to those practices? To explore conceptions of CT, we used Kafai et al.’s (2020) articulation …

Neuroprotective Activity Of Enantiomers Of Salsolinol And N-Methyl-(R)-Salsolinol: In Vitro And In Silico Studies, Magdalena Kurnik-Łucka, Gniewomir Latacz, Adam Bucki, Mario Rivera-Meza, Nadia Khan, Jahnobi Konwar, Kamil Skowron, Marcin Kołaczkowski, Krzysztof Gil

Faculty, Staff and Student Publications

Salsolinol (1-methyl-1,2,3,4-tetrahydroisoquinoline-6,7-diol) is a close structural analogue of dopamine with an asymmetric center at the C1 position, and its presence in vivo, both in humans and rodents, has already been proven. Yet, given the fact that salsolinol colocalizes with dopamine-rich regions and was first detected in the urine of Parkinson's disease patients, its direct role in the process of neurodegeneration has been proposed. Here, we report that

Preantral Follicle Morphometry And Ultrastructure Of Antral Follicles In Anatolian Water Buffalo, Duygu Baki̇ Acar, Muhammed Kürşad Bi̇rdane, Çi̇ğdem Tokyol, Nermi̇n Nüket Göçmen Karabeki̇r, Hati̇ce Mürvet Hayran, Erhan Özenç, Fatma Aktepe, Ebubeki̇r Yazici, İlknur Pi̇r Yağci, Mehmet Uçar

Turkish Journal of Veterinary & Animal Sciences

This study aimed to evaluate quantitative and morphometric analyses of preantral follicles and the ultrastructural characteristics of antral follicles in different oestrous cycle stages in Anatolian water buffaloes. Twenty-four ovaries collected from twelve slaughtered Anatolian water buffaloes were classified macroscopically as luteal or follicular stages. The ovaries were prepared for histological examination (Hematoxylin-eosin staining), and primordial, primary, and secondary follicle numbers were calculated, and the diameters of oocytes, follicles, and nuclei were measured under a light microscope with a micrometre. The theca and granulosa cells of antral follicles were observed under a transmission electron microscope. The mean number of preantral …

Determining The Protective Effect Of A Boron Adjuvanted Vaccine With An Experimental Infection Model In Mice, Zafer Sayin, Ali̇ Uslu, Özgür Özdemi̇r, Abdullah Başoğlu, Asli Balevi̇, Uçkun Sai̇t Uçan, Zeki̇ Aras, Osman Ergani̇ş

Turkish Journal of Veterinary & Animal Sciences

Boron is a required trace element for plants, humans, and animals and it has significant influence over biological functions and the immune system. Vaccines have aided humans in the control of many contagious diseases around the world. The success of global immunization campaigns may be possible with the development of effective and low-cost vaccines and adjuvants. For this reason, the present study aimed to determine the adjuvant activity of easily accessible boron compounds. In this study, six different vaccines were prepared, including inactive Staphylococcus aureus bacteria, boric acid, aluminum hydroxide, montanide ISA 50, and ISA 206, ISA 50 + boric …

Association Between Whole Blood-Derived Mitochondrial Dna Copy Number, Low-Density Lipoprotein Cholesterol, And Cardiovascular Disease Risk, Xue Liu, Xianbang Sun, Yuankai Zhang, Wenqing Jiang, Meng Lai, Kerri L Wiggins, Laura M Raffield, Lawrence F Bielak, Wei Zhao, Achilleas Pitsillides, Jeffrey Haessler, Yinan Zheng, Thomas W Blackwell, Jie Yao, Xiuqing Guo, Yong Qian, Bharat Thyagarajan, Nathan Pankratz, Stephen S Rich, Kent D Taylor, Patricia A Peyser, Susan R Heckbert, Sudha Seshadri, Eric Boerwinkle, Megan L Grove, Nicholas B Larson, Jennifer A Smith, Ramachandran S Vasan, Annette L Fitzpatrick, Myriam Fornage, Jun Ding, April P Carson, Goncalo Abecasis, Josée Dupuis, Alexander Reiner, Charles Kooperberg, Lifang Hou, Bruce M Psaty, James G Wilson, Daniel Levy, Jerome I Rotter, Joshua C Bis, Claudia L Satizabal, Dan E Arking, Chunyu Liu

Faculty, Staff and Student Publications

Background The relationship between mitochondrial DNA copy number (mtDNA CN) and cardiovascular disease remains elusive. Methods and Results We performed cross-sectional and prospective association analyses of blood-derived mtDNA CN and cardiovascular disease outcomes in 27 316 participants in 8 cohorts of multiple racial and ethnic groups with whole-genome sequencing. We also performed Mendelian randomization to explore causal relationships of mtDNA CN with coronary heart disease (CHD) and cardiometabolic risk factors (obesity, diabetes, hypertension, and hyperlipidemia).

Hippo Pathway Knockdown Gene Therapy In The Heart, Todd R Heallen, James F Martin

The Texas Heart Institute Journal

No abstract provided.

International Consensus On Differential Diagnosis And Management Of Patients With Danon Disease: Jacc State-Of-The-Art Review, Kimberly N Hong, Emily A Eshraghian, Michael Arad, Alessia Argirò, Michela Brambatti, Quan Bui, Oren Caspi, Fernando De Frutos, Barry Greenberg, Carolyn Y Ho, Juan Pablo Kaski, Iacopo Olivotto, Matthew R G Taylor, Abigail Yesso, Pablo Garcia-Pavia, Eric D Adler

Faculty, Staff and Students Publications

Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, …

Macrocephaly And Developmental Delay Caused By Missense Variants In Rab5c, Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafal Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph T Alaimo, Catherine Helbig, Colin A Ellis, Clare Van Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose Van Den Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A Silverman, Barth D Grant, David Raizen, Undiagnosed Diseases Network, Gijs Van Haaften, Stephen C Pak, Holger Rehmann, Tim Schedl, Peter Van Hasselt

Faculty, Staff and Students Publications

Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical …

Regulation Of Postnatal Cardiomyocyte Maturation By An Rna Splicing Regulator Rbfox1, Jijun Huang, Josh Z Lee, Christoph D Rau, Arash Pezhouman, Tomohiro Yokota, Hiromi Miwa, Matthew Feldman, Tsz Kin Kong, Ziyue Yang, Woan Ting Tay, Ivan Pushkarsky, Kyungsoo Kim, Shan S Parikh, Shreya Udani, Boon Seng Soh, Chen Gao, Linsey Stiles, Orian S Shirihai, Bjorn C Knollmann, Reza Ardehali, Dino Di Carlo, Yibin Wang

Faculty, Staff and Students Publications

No abstract provided.