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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 Jan 2021

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 …


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 Jan 2021

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 Jan 2021

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 Jan 2021

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 Jan 2021

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 Jan 2021

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.


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 Jan 2021

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.


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 Jan 2021

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 Jan 2021

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 Jan 2021

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 Jan 2021

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. Jan 2021

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 Jan 2021

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 Jan 2021

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 Jan 2021

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 Jan 2021

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. Jan 2021

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 Jan 2021

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 Jan 2021

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. Jan 2021

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 Jan 2021

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 Jan 2021

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.


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 Jan 2021

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.


A Multi-Step Nucleation Process Determines The Kinetics Of Prion-Like Domain Phase Separation, Erik W. Martin, Tyler S. Harmon, Jesse B. Hopkins, Srinivas Chakravarthy, J. Jeremías Incicco, Peter Schuck, Andrea Soranno, Tanja Mittag Jan 2021

A Multi-Step Nucleation Process Determines The Kinetics Of Prion-Like Domain Phase Separation, Erik W. Martin, Tyler S. Harmon, Jesse B. Hopkins, Srinivas Chakravarthy, J. Jeremías Incicco, Peter Schuck, Andrea Soranno, Tanja Mittag

Open Access Publications

No abstract provided.


Distinct Microrna Profiles In The Perilymph And Serum Of Patients With Menière's Disease, Matthew Shew, Helena Wichova, Madeleine St Peter, Athanasia Warnecke, Hinrich Staecker Jan 2021

Distinct Microrna Profiles In The Perilymph And Serum Of Patients With Menière's Disease, Matthew Shew, Helena Wichova, Madeleine St Peter, Athanasia Warnecke, Hinrich Staecker

Open Access Publications

No abstract provided.


Maturation Of Heterogeneity In Afferent Synapse Ultrastructure In The Mouse Cochlea, Shelby A Payne, Matthew S Joens, Heather Chung, Natalie Skigen, Adam Frank, Sonali Gattani, Kya Vaughn, Allison Schwed, Matt Nester, Atri Bhattacharyya, Guhan Iyer, Bethany Davis, Jason Carlquist, Honey Patel, James A J Fitzpatrick, Mark A Rutherford Jan 2021

Maturation Of Heterogeneity In Afferent Synapse Ultrastructure In The Mouse Cochlea, Shelby A Payne, Matthew S Joens, Heather Chung, Natalie Skigen, Adam Frank, Sonali Gattani, Kya Vaughn, Allison Schwed, Matt Nester, Atri Bhattacharyya, Guhan Iyer, Bethany Davis, Jason Carlquist, Honey Patel, James A J Fitzpatrick, Mark A Rutherford

Open Access Publications

Auditory nerve fibers (ANFs) innervating the same inner hair cell (IHC) may have identical frequency tuning but different sound response properties. In cat and guinea pig, ANF response properties correlate with afferent synapse morphology and position on the IHC, suggesting a causal structure-function relationship. In mice, this relationship has not been fully characterized. Here we measured the emergence of synaptic morphological heterogeneities during maturation of the C57BL/6J mouse cochlea by comparing postnatal day 17 (p17, ∼3 days after hearing onset) with p34, when the mouse cochlea is mature. Using serial block face scanning electron microscopy and three-dimensional reconstruction we measured …


Infiltration By Cxcl10 Secreting Macrophages Is Associated With Antitumor Immunity And Response To Therapy In Ovarian Cancer Subtypes, Laura Ardighieri, William Vermi, Et Al Jan 2021

Infiltration By Cxcl10 Secreting Macrophages Is Associated With Antitumor Immunity And Response To Therapy In Ovarian Cancer Subtypes, Laura Ardighieri, William Vermi, Et Al

Open Access Publications

Ovarian carcinomas (OCs) are poorly immunogenic and immune checkpoint inhibitors (ICIs) have offered a modest benefit. In this study, high CD3


Inhibition Of Discoidin Domain Receptors By Imatinib Prevented Pancreatic Fibrosis Demonstrated In Experimental Chronic Pancreatitis Model, Sapana Bansod, Mohd Aslam Saifi, Chandraiah Godugu Jan 2021

Inhibition Of Discoidin Domain Receptors By Imatinib Prevented Pancreatic Fibrosis Demonstrated In Experimental Chronic Pancreatitis Model, Sapana Bansod, Mohd Aslam Saifi, Chandraiah Godugu

Open Access Publications

No abstract provided.


Outcome After Acute Ischemic Stroke Is Linked To Sex-Specific Lesion Patterns, Anna K. Bonkhoff, Laura Heitsch, Chia-Ling Phuah, Et Al Jan 2021

Outcome After Acute Ischemic Stroke Is Linked To Sex-Specific Lesion Patterns, Anna K. Bonkhoff, Laura Heitsch, Chia-Ling Phuah, Et Al

Open Access Publications

No abstract provided.


The Sulfur Microbial Diet And Risk Of Colorectal Cancer By Molecular Subtypes And Intratumoral Microbial Species In Adult Men, Daniel R. Sikavi, Yin Cao, Et Al Jan 2021

The Sulfur Microbial Diet And Risk Of Colorectal Cancer By Molecular Subtypes And Intratumoral Microbial Species In Adult Men, Daniel R. Sikavi, Yin Cao, Et Al

Open Access Publications

No abstract provided.