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Dopamine D1 + D3 Receptor Density May Correlate With Parkinson Disease Clinical Features, Pengfei Yang, William C Knight, Huifangjie Li, Yingqiu Guo, Joel S Perlmutter, Tammie L S Benzinger, John C Morris, Jinbin Xu

Open Access Publications

OBJECTIVE: Dopamine D2-like receptors - mainly dopamine D2 receptors (D2R) and dopamine D3 receptors (D3R) - are believed to be greatly involved in the pathology of Parkinson disease (PD) progression. However, these receptors have not been precisely examined in PD patients. Our aim was to quantitatively calculate the exact densities of dopamine D1 receptors (D1R), D2R, and D3R in control, Alzheimer disease (AD), and Lewy body disease (LBD) patients (including PD, Dementia with Lewy bodies, and Parkinson disease dementia); and analyze the relationship between dopamine receptors and clinical PD manifestations.

METHODS: We analyzed the densities of D1R, D2R, and D3R …

A Decade In Review After Idiopathic Scoliosis Was First Called A Complex Trait-A Tribute To The Late Dr. Yves Cotrel For His Support In Studies Of Etiology Of Scoliosis, Nelson L S Tang, Matthew B Dobbs, Christina A Gurnett, Yong Qiu, T P Lam, Jack C Y Cheng, Nancy Hadley-Miller

Open Access Publications

Adolescent Idiopathic Scoliosis (AIS) is a prevalent and important spine disorder in the pediatric age group. An increased family tendency was observed for a long time, but the underlying genetic mechanism was uncertain. In 1999, Dr. Yves Cotrel founded the Cotrel Foundation in the Institut de France, which supported collaboration of international researchers to work together to better understand the etiology of AIS. This new concept of AIS as a complex trait evolved in this setting among researchers who joined the annual Cotrel meetings. It is now over a decade since the first proposal of the complex trait genetic model …

The Treatment Gap In Osteoporosis, Nazia Ayub, Malak Faraj, Sam Ghatan, Joannes A A Reijers, Nicola Napoli, Ling Oei

Open Access Publications

Worldwide, there are millions of people who have been diagnosed with osteoporosis, a bone disease that increases the risk of fracture due to low bone mineral density and deterioration of bone architecture. In the US alone, there are approximately ten million men and women diagnosed with osteoporosis and this number is still growing. Diagnosis is made by measuring bone mineral density. Medications used for the treatment of osteoporosis are bisphosphonates, denosumab, raloxifene, and teriparatide. Recently, romosozumab has been added as well. In recent years, a number of advances have been made in the field of diagnostic methods and the diverse …

Molecular Genetics And Complex Inheritance Of Congenital Heart Disease, Nicholas S Diab, Syndi Barish, Weilai Dong, Shujuan Zhao, Garrett Allington, Xiaobing Yu, Kristopher T Kahle, Martina Brueckner, Sheng Chih Jin

Open Access Publications

Congenital heart disease (CHD) is the most common congenital malformation and the leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD cases, but so far, a molecular diagnosis remains unsolved in up to 55% of patients. Copy number variations and aneuploidy account for ~23% of cases overall, and high-throughput genomic technologies have revealed additional types of genetic variation in CHD. The first CHD risk genotypes identified through high-throughput sequencing were de novo mutations, many of which occur in chromatin modifying genes. Murine models of cardiogenesis further support the damaging nature of chromatin modifying CHD mutations. …

Consequences Of Sur2[A478v] Mutation In Skeletal Muscle Of Murine Model Of Cantu Syndrome, Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor Mcclenaghan, Theresa M Harter, Colin G Nichols, Domenico Tricarico

Open Access Publications

(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the

Sevoflurane And Desflurane Exposures Following Aneurysmal Subarachnoid Hemorrhage Confer Multifaceted Protection Against Delayed Cerebral Ischemia, Keshav Jayaraman, Meizi Liu, Gregory J Zipfel, Umeshkumar Athiraman

Open Access Publications

Numerous studies have demonstrated the ability of isoflurane conditioning to provide multifaceted protection against aneurysmal subarachnoid hemorrhage (SAH)-associated delayed cerebral ischemia (DCI); however, preclinical studies have not yet examined whether other commonly used inhalational anesthetics in neurological patients such as sevoflurane or desflurane are also protective against SAH-induced neurovascular deficits. We therefore sought to identify the potential for sevoflurane and desflurane conditioning to protect against DCI in an endovascular perforation mouse model of SAH. Neurological function was assessed daily via neuroscore. Large artery vasospasm and microvessel thrombosis were assessed three days after SAH or sham surgery. Four groups were examined: …

Global Waves Synchronize The Brain's Functional Systems With Fluctuating Arousal, Ryan V Raut, Abraham Z Snyder, Anish Mitra, Dov Yellin, Naotaka Fujii, Rafael Malach, Marcus E Raichle

Open Access Publications

We propose and empirically support a parsimonious account of intrinsic, brain-wide spatiotemporal organization arising from traveling waves linked to arousal. We hypothesize that these waves are the predominant physiological process reflected in spontaneous functional magnetic resonance imaging (fMRI) signal fluctuations. The correlation structure ("functional connectivity") of these fluctuations recapitulates the large-scale functional organization of the brain. However, a unifying physiological account of this structure has so far been lacking. Here, using fMRI in humans, we show that ongoing arousal fluctuations are associated with global waves of activity that slowly propagate in parallel throughout the neocortex, thalamus, striatum, and cerebellum. We …

The Top 100 Cited Papers In The Field Of Iron Deficiency In Humans: A Bibliometric Study, John L. Frater

Open Access Publications

No abstract provided.

Autosomal Dominant Ano5-Related Disorder Associated With Myopathy And Gnathodiaphyseal Dysplasia, Aziz Shaibani, Shaida Khan, Marwan Shinawi

Open Access Publications

No abstract provided.

Genomic And Clinical Characterization Of Early T-Cell Precursor Lymphoblastic Lymphoma, Xinjie Xu, Christian N. Paxton, Robert J. Hayashi, Kimberly P. Dunsmore, Stuart S. Winter, Stephen P. Hunger, Naomi J. Winick, William L. Carroll, Mignon L. Loh, Meenakshi Devidas, Thomas G. Gross, Catherine M. Bollard, Sherrie L. Perkins, Rodney R. Miles

Open Access Publications

No abstract provided.

Impact Of Breast Reconstruction Patients On Cosmetic Practice, Danielle C. Cooper, Ali A. Qureshi, Ketan Sharma, Marissa M. Tenenbaum, Terence M. Myckatyn

Open Access Publications

No abstract provided.

Autophagy Of Mucin Granules Contributes To Resolution Of Airway Mucous Metaplasia, J.M. Sweeter, K. Kudrna, K. Hunt, P. Thomas, B. F. Dickey, S. L. Brody, J. D. Dickinson

Open Access Publications

No abstract provided.

Effect Of Clinical Isolate Or Cleavage Site Mutations In The Sars-Cov-2 Spike Protein On Protein Stability, Cleavage, And Cell–Cell Fusion, Chelsea T. Barrett, Hadley E. Neal, Kearstin Edmonds, Carole L. Moncman, Rachel Thompson, Jean M. Branttie, Kerri Beth Boggs, Cheng-Yu Wu, Daisy W. Leung, Rebecca E. Dutch

Open Access Publications

No abstract provided.

Mitochondria In Epithelial Ovarian Carcinoma Exhibit Abnormal Phenotypes And Blunted Associations With Biobehavioral Factors, Snehal Bindra, Marlon A. Mcgill, Marina K. Triplett, Anisha Tyagi, Premal H. Thaker, Laila Dahmoush, Michael J. Goodheart, R. Todd Ogden, Edward Owusu-Ansah, Kalpita R. Karan, Steve Cole, Anil K. Sood, Susan K. Lutgendorf, Martin Picard

Open Access Publications

No abstract provided.

Taxonomic Changes In The Gut Microbiota Are Associated With Cartilage Damage Independent Of Adiposity, High Fat Diet, And Joint Injury, Kelsey H. Collins, Drew J. Schwartz, Kristin L. Lenz, Charles A. Harris, Farshid Guilak

Open Access Publications

No abstract provided.

Orthogonal Targeting Of Osteoclasts And Myeloma Cells For Radionuclide Stimulated Dynamic Therapy Induces Multidimensional Cell Death Pathways, Alexander Zheleznyak, Matthew Mixdorf, Lynne Marsala, Julie Prior, Xiaoxia Yang, Grace Cui, Baogang Xu, Steven Fletcher, Francesca Fontana, Gregory Lanza, Samuel Achilefu

Open Access Publications

No abstract provided.

Restoration Of The Molecular Clock Is Tumor Suppressive In Neuroblastoma, Myrthala Moreno-Smith, Thomas P. Burris, Et Al.

Open Access Publications

No abstract provided.

Progress In Diagnosing Primary Ciliary Dyskinesia: The North American Perspective, Michael Glenn O'Connor, Amjad Horani, Adam J Shapiro

Open Access Publications

Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low …

Stk39 Promotes Breast Cancer Invasion And Metastasis By Increasing Snai1 Activity Upon Phosphorylation, Zhaoping Qiu, Bo Dong, Weijie Guo, Rychahou Piotr, Greg Longmore, Xiuwei Yang, Zhiyong Yu, Jiong Deng, B. Mark Evers, Yadi Wu

Open Access Publications

No abstract provided.

Focused Crispr‑Cas9 Genetic Screening Reveals Uso1 As A Vulnerability In B‑Cell Acute Lymphoblastic Leukemia, Amit Kumar Jaiswal, Hellen Truong, Tiffany M. Tran, Tasha L. Lin, David Casero, Michael O. Alberti, Dinesh S. Rao

Open Access Publications

No abstract provided.

Psychedelics For Brain Injury: A Mini-Review, Shariq Mansoor Khan, Gregory T Carter, Sunil K Aggarwal, Julie Holland

Open Access Publications

No abstract provided.

Gene Therapy For Aromatic L-Amino Acid Decarboxylase Deficiency By Mr-Guided Direct Delivery Of Aav2-Aadc To Midbrain Dopaminergic Neurons, Toni S. Pearson, Et Al.

Open Access Publications

No abstract provided.

Adipose Tissue Hyaluronan Production Improves Systemic Glucose Homeostasis And Primes Adipocytes For Cl 316,243-Stimulated Lipolysis, Yi Zhu, Gordon I. Smith, Samuel Klein, Et Al

Open Access Publications

No abstract provided.

Substrate Reduction Therapy For Krabbe Disease And Metachromatic Leukodystrophy Using A Novel Ceramide Galactosyltransferase Inhibitor, Michael C. Babcock, Christina R. Mikulka, Hemanth R. Nelvagal, Xuntian Jiang, Mark S. Sands, Et Al

Open Access Publications

No abstract provided.

Pge2-Jnk Signaling Axis Non-Canonically Promotes Gli Activation By Protecting Gli2 From Ubiquitin-Proteasomal Degradation, Jun Yang, Weijun Liu, Et Al.

Open Access Publications

No abstract provided.

Transcriptional-Regulatory Convergence Across Functional Mdd Risk Variants Identified By Massively Parallel Reporter Assays, Bernard Mulvey, Joseph D. Dougherty

Open Access Publications

No abstract provided.

Comparison Of Complication Risk For Open Carpal Tunnel Release: In-Office Versus Operating Room Settings, Dustin J. Randall, Kate Peacock, Katelin B. Nickel, Margaret Olsen, Andrew R. Tyser, Nikolas H. Kazmers

Open Access Publications

No abstract provided.

Lower Extremity Nerve Transfers In Acute Flaccid Myelitis Patients: A Case Series, Amy M. Moore, Carrie Roth Bettlach, Thomas T. Tung, Julie M. West, Stephanie A. Russo

Open Access Publications

No abstract provided.

Mismatch Repair Deficiency Predicts Response To Her2 Blockade In Her2-Negative Breast Cancer, Nindo B. Punturi, Sinem Seker, Vaishnavi Devarakonda, Aloran Mazumder, Rashi Kalra, Ching Hui Chen, Shunqiang Li, Tina Primeau, Matthew J. Ellis, Shyam M. Kavuri, Svasti Haricharan

Open Access Publications

No abstract provided.

Irradiation-Modulated Murine Brain Microenvironment Enhances Gl261-Tumor Growth And Inhibits Anti-Pd-L1 Immunotherapy, Joel R Garbow, Tanner M Johanns, Xia Ge, John A Engelbach, Liya Yuan, Sonika Dahiya, Christina I Tsien, Feng Gao, Keith M Rich, Joseph J H Ackerman

Open Access Publications

Purpose: Clinical evidence suggests radiation induces changes in the brain microenvironment that affect subsequent response to treatment. This study investigates the effect of previous radiation, delivered six weeks prior to orthotopic tumor implantation, on subsequent tumor growth and therapeutic response to anti-PD-L1 therapy in an intracranial mouse model, termed the Radiation Induced Immunosuppressive Microenvironment (RI

Method and Materials: C57Bl/6 mice received focal (hemispheric) single-fraction, 30-Gy radiation using the Leksell GammaKnife

Results: Tumors in previously irradiated brain display aggressive, invasive growth, characterized by viable tumor and large regions of hemorrhage and necrosis. Mice challenged intracranially with GL261 six weeks after prior …