Medicine and Health Sciences Commons^™

E-Cadherin Expression And Blunted Interferon Response In Blastic Plasmacytoid Dendritic Cell Neoplasm, Luisa Lorenzi, Silvia Lonardi, Donatella Vairo, Andrea Bernardelli, Michela Tomaselli, Mattia Bugatti, Sara Licini, Mariachiara Arisi, Lorenzo Cerroni, Alessandra Tucci, William Vermi, Silvia Clara Giliani, Fabio Facchetti

2020-Current year OA Pubs

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive neoplasm derived from plasmacytoid dendritic cells (pDCs). In this study, we investigated by immunohistochemical analysis the expression of E-cadherin (EC) on pDCs in reactive lymph nodes and tonsils, bone marrow, and in BPDCN. We compared the expression of EC in BPDCN to that in leukemia cutis (LC) and cutaneous lupus erythematosus (CLE), the latter typically featuring pDC activation. In BPDCN, we also assessed the immunomodulatory activity of malignant pDCs through the expression of several type I interferon (IFN-I) signaling effectors and downstream targets, PD-L1/CD274, and determined the extent of tumor infiltration …

Chyloptysis As A Delayed Sequela Of Penetrating Thoracic Trauma, Kyle G Mitchell, Hope Feldman, Bryan F Meyers, Mara B Antonoff

2020-Current year OA Pubs

No abstract provided.

How To Screen For Monoclonal Gammopathy In Patients With A Suspected Amyloidosis, Samuel M Rubinstein, Keith Stockerl-Goldstein

2020-Current year OA Pubs

No abstract provided.

Friends And Foes: Extracellular Vesicles In Aging And Rejuvenation, Brian V Lananna, Shin-Ichiro Imai

2020-Current year OA Pubs

Extracellular vesicles (EVs) are released by many different cell types throughout the body and play a role in a diverse range of biological processes. EVs circulating in blood as well as in other body fluids undergo dramatic alterations over an organism's lifespan that are only beginning to be elucidated. The exact nature of these changes is an area of active and intense investigation, but lacks clear consensus due to the substantial heterogeneity in EV subpopulations and insufficiencies in current technologies. Nonetheless, emerging evidence suggests that EVs regulate systemic aging as well as the pathophysiology of age-related diseases. Here, we review …

The Antifungal Pipeline: Fosmanogepix, Ibrexafungerp, Olorofim, Opelconazole, And Rezafungin, Martin Hoenigl, Rosanne Sprute, Matthias Egger, Amir Arastehfar, Oliver A Cornely, Robert Krause, Cornelia Lass-Flörl, Juergen Prattes, Andrej Spec, George R Thompson 3rd, Nathan Wiederhold, Jeffrey D Jenks

2020-Current year OA Pubs

The epidemiology of invasive fungal infections is changing, with new populations at risk and the emergence of resistance caused by the selective pressure from increased usage of antifungal agents in prophylaxis, empiric therapy, and agriculture. Limited antifungal therapeutic options are further challenged by drug-drug interactions, toxicity, and constraints in administration routes. Despite the need for more antifungal drug options, no new classes of antifungal drugs have become available over the last 2 decades, and only one single new agent from a known antifungal class has been approved in the last decade. Nevertheless, there is hope on the horizon, with a …

Somatic Pik3r1 Variation As A Cause Of Vascular Malformations And Overgrowth, Catherine E Cottrell, Jonathan W Heusel, Meagan Corliss, Michael J Evenson, Carrie C Coughlin, Et Al.

2020-Current year OA Pubs

PURPOSE: Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascular anomalies and identify an additional 16 individuals with somatic mosaic variants in PIK3R1.

METHODS: Affected tissue from individuals with vascular lesions and overgrowth recruited from a multisite collaborative network was studied. Next-generation sequencing targeting coding regions of cell-signaling and cancer-associated genes was performed followed by assessment of variant pathogenicity.

RESULTS: The …

The Write Stuff - Autumn 2021 (Vol. 18, No. 4), Research Medical Library

Write Stuff 2021

• The growing acceptance of preprints in biomedical publishing
• NIH biosketch changes
• Opening up the functionality of Microsoft Word with the Read Aloud tool
• NCI’s Author Arranger tool for manuscript title pages
• NIH tips for writing a research plan
• Unusual terms used in scientific writing and publishing: Creative Commons

Posterior And Middle Facets Of The Subtalar Joint: The Retrospective Search For An Early Sign Of Peritalar Subluxation And Progressive Flatfoot Deformity, Elijah C. Auch, Nacime Mansur, Shuyuan Li, Kevin Dibbern, John Femino, Daniel Baumfeld, Cesar De Cesar Netto, Thiago Alexandre Alves

Conference Presentation Abstracts

INTRODUCTION | Adult acquired flatfoot deformity (AAFD) is a complex three-dimensional (3D) pathology characterized by peritalar subluxation (PTS) of the hindfoot. The objective of this study was to compare the amount of subluxation between the middle and posterior facets in patients with AAFD. METHODS | In this IRB-approved retrospective comparative study, seventy-six AAFD patients (87 feet) who underwent weightbearing CT (WBCT) were included. Two blinded Fellowship-Trained Orthopedic Foot and Ankle Surgeons with >10 years of experience measured subtalar joint subluxation at the posterior and middle facets as well as the Foot and Ankle Offset (FAO). Intra- and interobserver agreement was …

Percutaneous Distal Metatarsal Mini-Invasive Osteotomy: Comparison Between Standard Vs. Modified Intraosseous Approach - A Cadaveric Study, Elijah C. Auch, Fernando S. Martins, Victoria Vivtcharenko, Eli Schmidt, Shuyuan Li, Alexandre L. Godoy-Santos, John Femino, Cesar De Cesar Netto

Conference Presentation Abstracts

BACKGROUND | The objective of this cadaveric study was to identify and compare the structures at risk of damage in standard versus modified intraosseous distal mini-invasive metatarsal osteotomy (DMMO). Our hypothesis was that the modified DMMO technique may be a safer, less complex procedure that could decrease the risk of iatrogenic injuries. METHODS | 11 thawed fresh-frozen under the knee cadaveric specimens underwent DMMO of the forefoot. The modified technique proposed by this study enters the dorsal cortex (at 45 degrees) straight through to the plantar cortex followed by cutting the lateral cortices (panels D, E, F). The standard technique …

Shifting Employabilities: Skilling Migrants In The Nation Of Emigration, Yasmin Y. Ortiga

Research Collection School of Social Sciences

This paper examines how Philippine state agencies sustain its labour-exporting strategies by encouraging aspiring migrants to invest in their own training and education, taking on the responsibility of turning themselves into desirable workers for employers overseas. Based on a document analysis of newspaper articles and Philippine government reports, this paper uses the case of Philippine nursing education to show how the Philippine state alters these discourses of skill when overseas opportunities decline, channelling aspiring migrants sideways to other sectors of the labour market. Discourses of employability justified these career detours to aspiring migrants by assuring them that such experiences will …

The Association Between Helicobacter Pylori Infection And Hyperemesis Gravidarum, Eman Mohamed, Samira Elmallah, Doaa Mohammed

Al-Azhar International Medical Journal

Background; Hyperemesis gravidarum (HG) is the severe kind of nausea and vomiting of gestation. The HG incidence is about 0.5-2.0%. For the diagnosis of HG, there must be the existence of 3 or more vomiting episodes throughout the day, weight losing of more than 5%, and ketonuria. Studies have recently suggested that there is a correlation between emesis of gravidarum and HG with Helicobacter pylori (H. pylori) infection. Serologically positive H. pylori infections were demonstrated in hyperemesis patients. Aim and objectives; the current work aimed to detect the correlation between H. pylori infections and HG throughout gestation. Subjects and methods; …

Assessment Of Serum Level Of Cxcl9 And Cxcl10 In Cutaneous Versus Systemic Lupus Erythematosus, Ghada Omar, Sabila Mosa, Radwa Morsy, Radwa Tirana, Nagla Abdelaty

Al-Azhar International Medical Journal

Abstract Introduction: Lupus erythematosus has been a chronic inflammatory illness where chemokines play a great role in its pathogenesis. CXCL9 and CXCL10 are chemokines that were researched in a variety of inflammatory skin disorders for their crucial role in immune responses. Aim of the Work: To compare CXCL9 and CXCL10 serum levels in patients suffering from cutaneous versus systemic lupus erythematosus. Patients and Methods: The forty-five Egyptian patients in this case-control research were collected from the University Hospital's outpatient clinic between October 2018 and June 2019. Two groups of patients were established: DLE Group (Fifteen patients), and SLE group (Thirty …

Study Of Cryptosporidium Infection In Liver Cirrhosis And Animal Model., Mohammed Elhussiny, Mohamed El-Faramawy

Al-Azhar International Medical Journal

Background: Cryptosporidium is a parasite that infects man especially immunocompromised patients. Liver cirrhosis reduced cellular immunity. Methods were used for diagnosis of cryptosporidium including coproscopy and copro-nested (copro-n) PCR assay. Objective: Detection of the molecular and genotypic prevalence of Cryptosporidium species in fecal samples of Egyptian patients with cirrhotic liver and exploring the possibility of association between Cryptosporidium and grades of liver cirrhosis, besides assessment their histopathological changes. Materials and Methods: This cross-sectional study was carried out on 60 patients with chronic liver disease (HCV and HBV positive) classified according to Child-Pugh score and 60 subjects free of any known …

Adaptation Of An Artificial Bait To An Automated Aerial Delivery System For Landscape-Scale Brown Treesnake Suppression, Rafael A. Garcia, Thomas W. Mcauliffe, Lorelie P. Bumanlag, Shane R. Siers, Bruce A. Kimball

USDA Wildlife Services: Staff Publications

Dead neonatal mice are currently used as bait for delivery of toxin to invasive brown treesnakes (Boiga irregularis) on Guam; once deployed in the field the mice are highly attractive to the snakes but only for about four days. An artificial bait containing a mixture of fats mimicking those in skin of the mice is also highly attractive to the snakes and remains attractive 2–3 times longer. The artificial bait, however, costs more than the mice, and is more difficult to attach to the capsules of a novel aerial bait delivery system. This paper describes a reformulation of the bait …

Threading The Needle: How Humans Influence Predator–Prey Spatiotemporal Interactions In A Multiple-Predator System, Asia Murphy, Duane R. Diefenbach, Mark Ternent, Matt Lovallo, David Miller

USDA Wildlife Services: Staff Publications

Perceived predation risk and the resulting antipredator behaviour varies across space, time and predator identity. Communities with multiple predators that interact and differ in their use of space, time of activity and hunting mode create a complex landscape for prey to avoid predation. Anthropogenic presence and disturbance have the potential to shift interactions among predators and prey and the where and when encounters occur. We examined how white-tailed deer Odocoileus virginianus fawn spatiotemporal antipredator behaviour differed along an anthropogenic disturbance gradient that had black bears Ursus americanus, coyotes Canis latrans, bobcats Lynx rufus and humans present. We quantified (a) spatial …

The Many Faces Of Covid19 Infection: A Case Of Multisystem Inflammatory Syndrome In Adults (Mis-A), Amy Lam Do, Kaitlyn Musco Md, Nicholas Hinds Md

Posters

No abstract provided.

Severe Iron Deficiency Anemia Causing Pericardial Effusion, Emily C. Skutnik Do, Anita Fei Md, Alisha Hossain Do, Desire G. Guthier Do, Andrew Viscusi Do, Bradley Lash Md, Ali Yazdanyar Do

Posters

No abstract provided.

Variations, Validations, Degradations, And Noninvasive Determination Of Pregnancy Using Fecal Steroid Metabolites In Free-Ranging Pronghorn, Cole A. Bleke, Eric M. Gese, Susannah S. French

USDA Wildlife Services: Staff Publications

Pregnancy status is a key parameter used to assess reproductive performance of a species as it represents a starting point for measuring vital rates. Vital rates allow managers to determine trends in populations such as neonate survival and recruitment; two important factors in ungulate population growth rates. Techniques to determine pregnancy have generally involved capture and restraint of the animal to obtain blood samples for determining serum hormone levels. Non-invasive pregnancy assessment, via feces, eliminates any hazards between handler and animal, as well as removes handling-induced physiological biases. Using noninvasive fecal sampling, we conducted hormone validations, investigated pregnancy rates, and …

Satellite-Detected Ammonia Changes In The United States: Natural Or Anthropogenic Impacts, Yaqian He, Rongting Xu, Stephen A. Prior, Di Yang, Anni Yang, Jian Chen

USDA Wildlife Services: Staff Publications

Ammonia (NH3) is the most abundant alkaline component and can react with atmospheric acidic species to form aerosols that can lead to numerous environmental and health issues. Increasing atmospheric NH3 over agricultural regions in the US has been documented. However, spatiotemporal changes of NH3 concentrations over the entire US are still not thoroughly understood, and the factors that drive these changes remain unknown. Herein, we applied the Atmospheric Infrared Sounder (AIRS) monthly NH3 dataset to explore spatiotemporal changes in atmospheric NH3 and the empirical relationships with synthetic N fertilizer application, livestock manure production, and climate factors across the entire US …

Cytoarchitectural Characteristics Associated With Cognitive Flexibility In Raccoons, Joanna Jacob, Molly Kent, Sarah Benson-Amram, Suzana Herculano-Houzel, Mary Ann Raghanti, Emily Ploppert, Jack Drake, Bilal Hindi, Nick R. Natale, Sarah Daniels, Rachel Fanelli, Anderson Miller, Tim Landis, Amy Gilbert, Shylo Johnson, Annie Lai, Molly Hyer, Amanda Rzucidlo, Chris Anchor, Stan Gehrt, Kelly Lambert

USDA Wildlife Services: Staff Publications

With rates of psychiatric illnesses such as depression continuing to rise, additional preclinical models are needed to facilitate translational neuroscience research. In the current study, the raccoon (Procyon lotor) was investigated due to its similarities with primate brains, including comparable proportional neuronal densities, cortical magnification of the forepaw area, and cortical gyrification. Specifically, we report on the cytoarchitectural characteristics of raccoons profiled as high, intermediate, or low solvers in a multiaccess problem-solving task. Isotropic fractionation indicated that high-solvers had significantly more cells in the hippocampus (HC) than the other solving groups; further, a nonsignificant trend suggested that this …

Movement, Space-Use And Resource Preferences Of European Golden Jackals In Human-Dominated Landscapes: Insights From A Telemetry Study, Skye Fenton, Paul R. Moorcroft, Duško Ćirović, József Lanszki, Miklós Heltai, Francesca Cagnacci, Stewart Breck, Neda Bogdanović, Ilija Pantelić, Kornél Ács, Nathan Ranc

USDA Wildlife Services: Staff Publications

During the last half-century, the distribution of golden jackals (Canis aureus) has rapidly increased throughout Europe. Today, golden jackals are thriving in human-dominated landscapes across Southeastern and Central Europe. Most studies on golden jackals have focused on large-scale distribution patterns; to date, little is known about the species’ fine-scale spatial ecology. In this study, we analyzed the movement behavior, space-use and resource selection of six golden jackals fitted with GPS-GSM collars in two study areas in Hungary and Serbia. Two of the jackals were a breeding pair. We found that home range size averaged 11.2 km² (90% …

Effects Of Translocation On Survival Of Nuisance Bears, Javan Bauder, D. Ruid, N. M. Roberts, B. Kohn, M. L. Allen

USDA Wildlife Services: Staff Publications

Effective mitigation of human–wildlife conflict should aim to reduce conflicts while also minimizing wildlife mortality. Translocation is often used to mitigate human–wildlife conflict but translocated individuals may have reduced survival, which could negatively affect population growth and social acceptance of translocation as a management tool. Yet, non-translocated nuisance individuals may also have low survival due to inherent risks associated with nuisance behavior. We used a 38-year dataset of 1233 marked and translocated nuisance American black bears (Ursus americanus) as a model system with which to evaluate the impacts of translocation on nuisance bear survival. We used multi-state mark-recapture models to …

Utilization Of 2d Barcode Technology To Create Surgical Pathology Reports, Zhenhong Qu, Elaine Qu, James Huang, Mark A. Micale, E Li

Conference Presentation Abstracts

Introduction/Objective: After professional transcription service is eliminated, pathologists inevitably undertake the task of diagnostic data entry into pathology repot by adapting a variety of methods such as speech recognition, manual typing, and pre-texted command. Errors and inefficiency in reporting remain common problems, especially for information with unusual syntax such as genotype or nucleotide sequences. To overcome these shortcomings, we introduce here a novel application of a well-established technology as a complementary method, namely 2- dimensional (2D) barcode symbology. Methods/Case Report: Commonly used diagnostic wordings of pathology reports including specimen type, surgical procedure, diagnosis, and test results are collated and organized …

Interobserver Variability In Differentiated Vulvar Intraepithelial Neoplasia Between Surgical Pathology Subspecialties, Grace Y. Wang

Conference Presentation Abstracts

Abstract:Background: Differentiated vulvar intraepithelial neoplasia (dVIN) is a human papillomavirus-independent lesion with potential for rapid progression to invasive squamous cell carcinoma (SCC). The histologic features of dVIN are diverse and have overlapping characteristics with lichen sclerosus (LS) and lichen simplex chronicus (LSC); and may be diagnosed by dermatopathologists or gynecologic pathologists. The goal of our study is to examine interobserver variability in the diagnosis of dVIN between pathologists with different subspecialty expertise. Design: Biopsies diagnosed as dVIN, LS and LSC from 2011-2018 were retrieved from the pathology database at a large academic institution. Using Fleiss kappa statistic, histologic features and …

Safety, Pharmacokinetics And Antiviral Activity Of Pgt121, A Broadly Neutralizing Monoclonal Antibody Against Hiv-1: A Randomized, Placebo-Controlled, Phase 1 Clinical Trial, Kathryn E Stephenson, Boris Julg, C Sabrina Tan, Rebecca Zash, Stephen R Walsh, Charlotte-Paige Rolle, Ana N Monczor, Sofia Lupo, Huub C Gelderblom, Jessica L Ansel, Diane G Kanjilal, Lori F Maxfield, Joseph Nkolola, Erica N Borducchi, Peter Abbink, Jinyan Liu, Lauren Peter, Abishek Chandrashekar, Ramya Nityanandam, Zijin Lin, Alessandra Setaro, Joseph Sapiente, Zhilin Chen, Lisa Sunner, Tyler Cassidy, Chelsey Bennett, Alicia Sato, Bryan Mayer, Alan S Perelson, Allan Decamp, Frances H Priddy, Kshitij Wagh, Elena E Giorgi, Nicole L Yates, Roberto C Arduino, Edwin Dejesus, Georgia D Tomaras, Michael S Seaman, Bette Korber, Dan H Barouch

Journal Articles

Human immunodeficiency virus (HIV)-1-specific broadly neutralizing monoclonal antibodies are currently under development to treat and prevent HIV-1 infection. We performed a single-center, randomized, double-blind, dose-escalation, placebo-controlled trial of a single administration of the HIV-1 V3-glycan-specific antibody PGT121 at 3, 10 and 30 mg kg

Correcting Degenerative Lumbar Spine Deformity By Stand-Alone Anterior Oblique Lumbar Interbody Fusion, Mohamed Elkazaz, Ali Abou -Madawi, Hassan Alshatoury, Mohamed Alqazaz, Ahmed Abdemoniem, Khalid M.I. Salem

Advanced Spine Journal

Background Data: Adult degenerative scoliosis has at its starting point the same broader definition of adult scoliosis, which is defined as a Cobb angle of greater than 10 degrees measured in the coronal plane. However, it is exclusive for adults who previously had normal spinal alignment. Such pathology with no specific etiology results from a combination of degenerative lumbar diseases. Oblique lumbar interbody fusion (OLIF) is one of the fusion techniques used. It was introduced to overcome the disadvantages of the commonly used interbody fusions like anterior (ALIF), lateral (LLIF), or posterior (PLIF) interbody fusions. OLIF can achieve spinal stability, …

Data-Driven Clustering Identifies Features Distinguishing Multisystem Inflammatory Syndrome From Acute Covid-19 In Children And Adolescents., Alon Geva, Manish M. Patel, Margaret M. Newhams, Cameron C. Young, Mary Beth F. Son, Michele Kong, Aline B. Maddux, Mark W. Hall, Becky J. Riggs, Aalok R. Singh, John S. Giuliano, Charlotte V. Hobbs, Laura L. Loftis, Gwenn E. Mclaughlin, Stephanie P. Schwartz, Jennifer E. Schuster, Christopher J. Babbitt, Natasha B. Halasa, Shira J. Gertz, Sule Doymaz, Janet R. Hume, Tamara T. Bradford, Katherine Irby, Christopher L. Carroll, John K. Mcguire, Keiko M. Tarquinio, Courtney M. Rowan, Elizabeth H. Mack, Natalie Z. Cvijanovich, Julie C. Fitzgerald, Philip C. Spinella, Mary A. Staat, Katharine N. Clouser, Vijaya L. Soma, Heda Dapul, Mia Maamari, Cindy Bowens, Kevin M. Havlin, Peter M. Mourani, Sabrina M. Heidemann, Steven M. Horwitz, Leora R. Feldstein, Mark W. Tenforde, Jane W. Newburger, Kenneth D. Mandl, Adrienne G. Randolph, Overcoming Covid-19 Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Background: Multisystem inflammatory syndrome in children (MIS-C) consensus criteria were designed for maximal sensitivity and therefore capture patients with acute COVID-19 pneumonia.

Methods: We performed unsupervised clustering on data from 1,526 patients (684 labeled MIS-C by clinicians)clusters, followed by recursive feature elimination to identify characteristics of potentially misclassified MIS-C-labeled patients.

Findings: Of 94 clinical features tested, 46 were retained for clustering. Cluster 1 patients (N = 498; 92% labeled MIS-C) were mostly previously healthy (71%), with mean age 7·2 ± 0·4 years, predominant cardiovascular (77%) and/or mucocutaneous (82%) involvement, high inflammatory biomarkers, and mostly SARS-CoV-2 PCR negative (60%). Cluster …

Aberrantly Low Stat3 And Stat5 Responses Are Associated With Poor Outcome And An Inflammatory Gene Expression Signature In Pediatric Acute Myeloid Leukemia., P Narayanan, T-K Man, R B Gerbing, R Ries, A M Stevens, Y-C Wang, X Long, A S. Gamis, T Cooper, S Meshinchi, T A Alonzo, M S Redell

Manuscripts, Articles, Book Chapters and Other Papers

The relapse rate for children with acute myeloid leukemia is nearly 40% despite aggressive chemotherapy and often stem cell transplant. We sought to understand how environment-induced signaling responses are associated with clinical response to treatment. We previously reported that patients whose AML cells showed low G-CSF-induced STAT3 activation had inferior event-free survival compared to patients with stronger STAT3 responses. Here, we expanded the paradigm to evaluate multiple signaling parameters induced by a more physiological stimulus. We measured STAT3, STAT5 and ERK1/2 responses to G-CSF and to stromal cell-conditioned medium for 113 patients enrolled on COG trials AAML03P1 and AAML0531. Low …

Rare Variants In Kdr, Encoding Vegf Receptor 2, Are Associated With Tetralogy Of Fallot., Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V Y Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura A. Cross, Dihong Zhou, T Pastinen, German Competence Network For Congenital Heart Defects, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.

Methods: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. We studied gene-targeted mice and conducted cell-based assays to explore the role of KDR genetic variation in the etiology of TOF.

Results: Exome sequencing in a family with two siblings affected by TOF revealed biallelic missense variants in KDR. Studies in knock-in …

Mask, The Drosophila Ankyrin Repeat And Kh Domain-Containing Protein, Affects Microtubule Stability, Daniel Martinez, Mingwei Zhu, Jessie J. Guidry, Niles Majeste, Hui Mao, Sarah T. Yanofsky, Xiaolin Tian, Chunlai Wu

School of Medicine Faculty Publications

Proper regulation of microtubule (MT) stability and dynamics is vital for essential cellular processes, including axonal transportation and synaptic growth and remodeling in neurons. In the present study, we demonstrate that the Drosophila ankyrin repeat and KH domain-containing protein Mask negatively affects MT stability in both larval muscles and motor neurons. In larval muscles, loss-of-function of mask increases MT polymer length, and in motor neurons, loss of mask function results in overexpansion of the presynaptic terminal at the larval neuromuscular junctions (NMJs). mask genetically interacts with stathmin (stai), a neuronal modulator of MT stability, in the regulation of axon transportation …