Search Results - "ALEXANDER, John J"

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy by Butler, Kameryn M, Moody, Olivia A, Schuler, Elisabeth, Coryell, Jason, Alexander, John J, Jenkins, Andrew, Escayg, Andrew

“…GABAA receptors are important regulators of neuronal inhibition. Butler et al. identify de novo variants in GABRA2 and GABRA5, encoding α2 and α5 receptor…”
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Pediatric Patient-Reported Outcome Instruments for Research to Support Medical Product Labeling: Report of the ISPOR PRO Good Research Practices for the Assessment of Children and Adolescents Task Force by Matza, Louis S., PhD, Patrick, Donald L., PhD, MSPH, Riley, Anne W., PhD, MS, Alexander, John J., MD, MPH, Rajmil, Luis, MD, PhD, MPH, Pleil, Andreas M., PhD, Bullinger, Monika, PhD

“…Abstract Background Patient-reported outcome (PRO) instruments for children and adolescents are often included in clinical trials with the intention of…”
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Use of a Comprehensive 66‐Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults by Karpen, Saul J., Kamath, Binita M., Alexander, John J., Ichetovkin, Ilia, Rosenthal, Philip, Sokol, Ronald J., Dunn, Shelley, Thompson, Richard J., Heubi, James E.

“…ABSTRACT Objectives: Cholestasis is caused by a wide variety of etiologies, often genetic in origin. Broad overlap in clinical presentations, particularly in…”
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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine by Garber, Kathryn B., Vincent, Lisa M., Alexander, John J., Bean, Lora J.H., Bale, Sherri, Hegde, Madhuri

“…Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing…”
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SubILM Injection of AAV for Gene Delivery to the Retina by Gamlin, Paul D, Alexander, John J, Boye, Sanford L, Witherspoon, C Douglas, Boye, Shannon E

“…Adeno-associated virus (AAV) has emerged as the vector of choice for delivering genes to the retina. Indeed, the first gene therapy to receive FDA approval in…”
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Highly Efficient Delivery of Adeno-Associated Viral Vectors to the Primate Retina by Boye, Shannon E, Alexander, John J, Witherspoon, C Douglas, Boye, Sanford L, Peterson, James J, Clark, Mark E, Sandefer, Kristen J, Girkin, Chris A, Hauswirth, William W, Gamlin, Paul D

“…Adeno-associated virus (AAV) has emerged as the preferred vector for targeting gene expression to the retina. Subretinally injected AAV can efficiently…”
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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients by Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri

“…Objective Limb‐girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal‐muscle…”
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Restoration of cone vision in a mouse model of achromatopsia by Hauswirth, William W, Alexander, John J, Umino, Yumiko, Everhart, Drew, Chang, Bo, Min, Seok H, Li, Qiuhong, Timmers, Adrian M, Hawes, Norman L, Pang, Ji-jing, Barlow, Robert B

“…Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent blinding diseases. Complete…”
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Immune Depletion With Cellular Mobilization Imparts Immunoregulation and Reverses Autoimmune Diabetes in Nonobese Diabetic Mice by PARKER, Matthew J, SONG XUE, EISENBEIS, Scott, WILLIAMS, John, SCHATZ, Desmond A, HALLER, Michael J, ATKINSON, Mark A, ALEXANDER, John J, WASSERFALL, Clive H, CAMPBELL-THOMPSON, Martha L, BATTAGLIA, Manuela, GREGORI, Silvia, MATHEWS, Clayton E, SIHONG SONG, TROUTT, Misty

“…Immune Depletion With Cellular Mobilization Imparts Immunoregulation and Reverses Autoimmune Diabetes in Nonobese Diabetic Mice Matthew J. Parker 1 , Song Xue…”
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Persistent STAT5 phosphorylation and epigenetic dysregulation of GM-CSF and PGS2/COX2 expression in Type 1 diabetic human monocytes by Garrigan, Erin, Belkin, Nicole S, Alexander, John J, Han, Zhao, Seydel, Federica, Carter, Jamal, Atkinson, Mark, Wasserfall, Clive, Clare-Salzler, Michael J, Amick, Matthew A, Litherland, Sally A

“…STAT5 proteins are adaptor proteins for histone acetylation enzymes. Histone acetylation at promoter and enhancer chromosomal regions opens the chromatin and…”
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Novel Methodology for Creating Macaque Retinas with Sortable Photoreceptors and Ganglion Cells by Choudhury, Shreyasi, Strang, Christianne E, Alexander, John J, Scalabrino, Miranda L, Lynch Hill, Julie, Kasuga, Daniel T, Witherspoon, C Douglas, Boye, Sanford L, Gamlin, Paul D, Boye, Shannon E

“…The ability to generate macaque retinas with sortable cell populations would be of great benefit to both basic and translational studies of the primate retina…”
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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel by Butler, Kameryn M., da Silva, Cristina, Alexander, John J., Hegde, Madhuri, Escayg, Andrew

“…The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a…”
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Cardiovascular Risks with Azithromycin and Other Antibacterial Drugs by Mosholder, Andrew D, Mathew, Justin, Alexander, John J, Smith, Harry, Nambiar, Sumathi

“…The FDA recently approved labeling changes advising against the use of azithromycin in patients with known cardiovascular risk factors such as QT-interval…”
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Early-Life Epilepsies and the Emerging Role of Genetic Testing by Berg, Anne T, Coryell, Jason, Saneto, Russell P, Grinspan, Zachary M, Alexander, John J, Kekis, Mariana, Sullivan, Joseph E, Wirrell, Elaine C, Shellhaas, Renée A, Mytinger, John R, Gaillard, William D, Kossoff, Eric H, Valencia, Ignacio, Knupp, Kelly G, Wusthoff, Courtney, Keator, Cynthia, Dobyns, William B, Ryan, Nicole, Loddenkemper, Tobias, Chu, Catherine J, Novotny, Jr, Edward J, Koh, Sookyong

“…Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic…”
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Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants by Alexander, John J., da Silva, Cristina, Milla, Sarah S., Holt, Philip J., Butler, Kameryn M., Escayg, Andrew

“…CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile…”
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Gene therapy rescues cone function in congenital achromatopsia by Komáromy, András M., Alexander, John J., Rowlan, Jessica S., Garcia, Monique M., Chiodo, Vince A., Kaya, Asli, Tanaka, Jacqueline C., Acland, Gregory M., Hauswirth, William W., Aguirre, Gustavo D.

“…The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an…”
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SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport by Mattison, Kari A., Butler, Kameryn M., Inglis, George Andrew S., Dayan, Oshrat, Boussidan, Hanna, Bhambhani, Vikas, Philbrook, Bryan, Silva, Cristina, Alexander, John J., Kanner, Baruch I., Escayg, Andrew

“…Summary Previous reports have identified SLC6A1 variants in patients with generalized epilepsies, such as myoclonic‐atonic epilepsy and childhood absence…”
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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease by Tortorelli, Silvia, Eckerman, Jason S, Orsini, Joseph J, Stevens, Colleen, Hart, Jeremy, Hall, Patricia L, Alexander, John J, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero

“…Purpose To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease. Methods The new…”
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel by Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
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Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome by Ankala, Arunkanth, Jain, Nieraj, Hubbard, Baker, Alexander, John J., Shankar, Suma P.

“…Wagner syndrome and erosive vitreoretinopathy together constitute the phenotypic continuum of an autosomal dominant vitreoretinopathy, with clinical findings…”
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