Search Results - "Drummond, Meghan C."

Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear by Drummond, Meghan C., Barzik, Melanie, Bird, Jonathan E., Zhang, Duan-Sun, Lechene, Claude P., Corey, David P., Cunningham, Lisa L., Friedman, Thomas B.

“…The maintenance of sensory hair cell stereocilia is critical for lifelong hearing; however, mechanisms of structural homeostasis remain poorly understood…”
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Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 by Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A., Raza, Syed I., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Riazuddin, Saima, Billington, Neil, Khan, Shaheen N., Friedman, Penelope L., Griffith, Andrew J., Ahmad, Wasim, Riazuddin, Sheikh, Leal, Suzanne M., Friedman, Thomas B.

“…Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In…”
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Recovery kinetics of dual AAV-mediated human otoferlin expression by Sellon, Jonathan B, So, Kathy S, D'Arcangelo, Andrew, Cancelarich, Sarah, Drummond, Meghan C, Slade, Peter G, Pan, Ning, Gibson, Tyler M, Yang, Tian, Burns, Joseph C, Palermo, Adam T, Becker, Lars

“…Deafness-causing deficiencies in ( ) have been addressed preclinically using dual adeno-associated virus (AAV)-based approaches. However, timing of…”
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A novel actin mRNA splice variant regulates ACTG1 expression by Drummond, Meghan C, Friderici, Karen H

“…Cytoplasmic actins are abundant, ubiquitous proteins in nucleated cells. However, actin expression is regulated in a tissue- and development-specific manner…”
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Harnessing molecular motors for nanoscale pulldown in live cells by Bird, Jonathan E, Barzik, Melanie, Drummond, Meghan C, Sutton, Daniel C, Goodman, Spencer M, Morozko, Eva L, Cole, Stacey M, Boukhvalova, Alexandra K, Skidmore, Jennifer, Syam, Diana, Wilson, Elizabeth A, Fitzgerald, Tracy, Rehman, Atteeq U, Martin, Donna M, Boger, Erich T, Belyantseva, Inna A, Friedman, Thomas B

“…Protein-protein interactions (PPIs) regulate assembly of macromolecular complexes, yet remain challenging to study within the native cytoplasm where they…”
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Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome by Isgrig, Kevin, Shteamer, Jack W., Belyantseva, Inna A., Drummond, Meghan C., Fitzgerald, Tracy S., Vijayakumar, Sarath, Jones, Sherri M., Griffith, Andrew J., Friedman, Thomas B., Cunningham, Lisa L., Chien, Wade W.

“…Dizziness and hearing loss are among the most common disabilities. Many forms of hereditary balance and hearing disorders are caused by abnormal development of…”
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease by Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.

“…Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure…”
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Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome by Isgrig, Kevin, Shteamer, Jack W., Belyantseva, Inna A., Drummond, Meghan C., Fitzgerald, Tracy S., Vijayakumar, Sarath, Jones, Sherri M., Griffith, Andrew J., Friedman, Thomas B., Cunningham, Lisa L., Chien, Wade W.

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Actin in hair cells and hearing loss by Drummond, Meghan C., Belyantseva, Inna A., Friderici, Karen H., Friedman, Thomas B.

“…Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and…”
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Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice by Chien, Wade W, Isgrig, Kevin, Roy, Soumen, Belyantseva, Inna A, Drummond, Meghan C, May, Lindsey A, Fitzgerald, Tracy S, Friedman, Thomas B, Cunningham, Lisa L

“…Hereditary deafness is one of the most common disabilities affecting newborns. Many forms of hereditary deafness are caused by morphological defects of the…”
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults by Praveen, Kavita, Dobbyn, Lee, Gurski, Lauren, Ayer, Ariane H., Staples, Jeffrey, Mishra, Shawn, Bai, Yu, Kaufman, Alexandra, Moscati, Arden, Benner, Christian, Chen, Esteban, Chen, Siying, Popov, Alexander, Smith, Janell, Melander, Olle, Jones, Marcus B., Marchini, Jonathan, Balasubramanian, Suganthi, Zambrowicz, Brian, Drummond, Meghan C., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A., Stahl, Eli A., Coppola, Giovanni

“…To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five…”
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An similar to 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival by Fyfe, John C, Menotti-Raymond, Marilyn, David, Victor A, Brichta, Lars, Schaeffer, Alejandro A, Agarwala, Richa, Murphy, William J, Wedemeyer, William J, Gregory, Brittany L, Buzzell, Bethany G, Drummond, Meghan C, Wirth, Brunhilde, O'Brien, Stephen J

“…The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we…”
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Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent by Lovell, Kathryn L., Zhu, Mei, Drummond, Meghan C., Switzer, Robert C., Friderici, Karen H.

“…Neurological dysfunction is common in humans and animals with lysosomal storage diseases. β-Mannosidosis, an autosomal recessive inherited disorder of…”
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A Novel Actin mRNA Splice Variant Regulates ACTG1 Expression: e1003743 by Drummond, Meghan C, Friderici, Karen H

“…Cytoplasmic actins are abundant, ubiquitous proteins in nucleated cells. However, actin expression is regulated in a tissue- and development-specific manner…”
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Challenges and solutions for gene identification in the presence of familial locus heterogeneity by Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M

“…Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies…”
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An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival by Fyfe, John C., Menotti-Raymond, Marilyn, David, Victor A., Brichta, Lars, Schäffer, Alejandro A., Agarwala, Richa, Murphy, William J., Wedemeyer, William J., Gregory, Brittany L., Buzzell, Bethany G., Drummond, Meghan C., Wirth, Brunhilde, O'Brien, Stephen J.

“…The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we…”
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An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival by Fyfe, John C, Menotti-Raymond, Marilyn, David, Victor A, Brichta, Lars, Schäffer, Alejandro A, Agarwala, Richa, Murphy, William J, Wedemeyer, William J, Gregory, Brittany L, Buzzell, Bethany G, Drummond, Meghan C, Wirth, Brunhilde, O'Brien, Stephen J

“…The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we…”
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