Search Results - "Tadenev, Abigail L. D."

Inhibitory G proteins play multiple roles to polarize sensory hair cell morphogenesis by Jarysta, Amandine, Tadenev, Abigail L D, Day, Matthew, Krawchuk, Barry, Low, Benjamin E, Wiles, Michael V, Tarchini, Basile

“…Inhibitory G alpha (GNAI or Gαi) proteins are critical for the polarized morphogenesis of sensory hair cells and for hearing. The extent and nature of their…”
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Loss of Bardet—Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting by Tadenev, Abigail L. D., Kulaga, Heather M., May-Simera, Helen L., Kelley, Matthew W., Katsanis, Nicholas, Reed, Randall R.

“…Bardet—Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS…”
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A link between planar polarity and staircase-like bundle architecture in hair cells by Tarchini, Basile, Tadenev, Abigail L D, Devanney, Nicholas, Cayouette, Michel

“…Sensory perception in the inner ear relies on the hair bundle, the highly polarized brush of movement detectors that crowns hair cells. We previously showed…”
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A spontaneous mutation in contactin 1 in the mouse by Davisson, Muriel T, Bronson, Roderick T, Tadenev, Abigail L D, Motley, William W, Krishnaswamy, Arjun, Seburn, Kevin L, Burgess, Robert W

“…Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human…”
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The Spindle Orientation Machinery Beyond Mitosis: When Cell Specialization Demands Polarization by Tadenev, Abigail L D, Tarchini, Basile

“…Mitosis is a process requiring strict spatial organization of cellular components. In particular, the orientation of the mitotic spindle with respect to the…”
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GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity by Tadenev, Abigail L.D., Akturk, Anil, Devanney, Nicholas, Mathur, Pranav Dinesh, Clark, Anna M., Yang, Jun, Tarchini, Basile

“…The transduction compartment of inner ear hair cells, the hair bundle, is composed of stereocilia rows of graded height, a property essential for sensory…”
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tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase by Zuko, Amila, Mallik, Moushami, Thompson, Robin, Spaulding, Emily L, Wienand, Anne R, Been, Marije, Tadenev, Abigail L D, van Bakel, Nick, Sijlmans, Céline, Santos, Leonardo A, Bussmann, Julia, Catinozzi, Marica, Das, Sarada, Kulshrestha, Divita, Burgess, Robert W, Ignatova, Zoya, Storkebaum, Erik

“…Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. CMT mutant tRNA synthetases inhibit…”
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DSCAMs: restoring balance to developmental forces by Garrett, Andrew M, Tadenev, Abigail L D, Burgess, Robert W

“…Many of the models of neurodevelopmental processes such as cell migration, axon outgrowth, and dendrite arborization involve cell adhesion and chemoattraction…”
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Replacing the PDZ-interacting C-termini of DSCAM and DSCAML1 with epitope tags causes different phenotypic severity in different cell populations by Garrett, Andrew M, Tadenev, Abigail Ld, Hammond, Yuna T, Fuerst, Peter G, Burgess, Robert W

“…Different types of neurons in the retina are organized vertically into layers and horizontally in a mosaic pattern that helps ensure proper neural network…”
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Model validity for preclinical studies in precision medicine: precisely how precise do we need to be? by Tadenev, Abigail L. D., Burgess, Robert W.

“…The promise of personalized medicine is that each patient’s treatment can be optimally tailored to their disease. In turn, their disease, as well as their…”
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Testing SIPA1L2 as a modifier of CMT1A using mouse models by Murray, George C, Hines, Timothy J, Tadenev, Abigail L D, Xu, Isaac, Züchner, Stephan, Burgess, Robert W

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (PMP22), leading…”
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Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D by Tadenev, Abigail L. D., Hatton, Courtney L., Burgess, Robert W.

“…Background Inhibition of HDAC6 has been proposed as a broadly applicable therapeutic strategy for Charcot–Marie–Tooth disease (CMT). Inhibition of HDAC6…”
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Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons by Wong, Yvette C, Jayaraj, Nirupa D, Belton, Tayler B, Shum, George C, Ball, Hannah E, Ren, Dongjun, Tadenev, Abigail L D, Krainc, Dimitri, Burgess, Robert W, Menichella, Daniela M

“…Inter-organelle contact sites between mitochondria and lysosomes mediate the crosstalk and bidirectional regulation of their dynamics in health and disease…”
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Precision mouse models of Yars/dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1 by Hines, Timothy J., Tadenev, Abigail L. D., Lone, Museer A., Hatton, Courtney L., Bagasrawala, Inseyah, Stum, Morgane G., Miers, Kathy E., Hornemann, Thorsten, Burgess, Robert W.

“…Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease,…”
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A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development by Tarchini, Basile, Longo-Guess, Chantal, Tian, Cong, Tadenev, Abigail L.D., Devanney, Nicholas, Johnson, Kenneth R.

“…Hundreds of thousands of cis-regulatory DNA sequences are predicted in vertebrate genomes, but unlike genes themselves, few have been characterized at the…”
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Genetic analysis of Pycr1 and Pycr2 in mice by Stum, Morgane G, Tadenev, Abigail L D, Seburn, Kevin L, Miers, Kathy E, Poon, Pak P, McMaster, Christopher R, Robinson, Carolyn, Kane, Coleen, Silva, Kathleen A, Cliften, Paul F, Sundberg, John P, Reinholdt, Laura G, John, Simon W M, Burgess, Robert W

“…Abstract The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate reductases, PYCR1, PYCR2, and PYCR3, which convert…”
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T Cells from NOD- PerIg Mice Target Both Pancreatic and Neuronal Tissue by Racine, Jeremy J, Chapman, Harold D, Doty, Rosalinda, Cairns, Brynn M, Hines, Timothy J, Tadenev, Abigail L D, Anderson, Laura C, Green, Torrian, Dyer, Meaghan E, Wotton, Janine M, Bichler, Zoë, White, Jacqueline K, Ettinger, Rachel, Burgess, Robert W, Serreze, David V

“…It has become increasingly appreciated that autoimmune responses against neuronal components play an important role in type 1 diabetes (T1D) pathogenesis. In…”
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An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response by Murray, George C, Bubier, Jason A, Zinder, Oraya J, Harris, Belinda, Clark, James, Christopher, Mia-Cara, Hanley, Courtany, Tjong, Harianto, Li, Meihong, Ngan, Chew Yee, Reinholdt, Laura, Burgess, Robert W, Tadenev, Abigail L D

“…Abstract The Retinoid-related orphan receptor beta (RORβ) gene encodes a developmental transcription factor and has 2 predominant isoforms created through…”
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Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases by Beijer, Danique, Marte, Sheila, Li, Jiaxin C, De Ridder, Willem, Chen, Jessie Z, Tadenev, Abigail L D, Miers, Kathy E, Deconinck, Tine, Macdonell, Richard, Marques, Wilson, De Jonghe, Peter, Pratt, Samia L, Meyer-Schuman, Rebecca, Züchner, Stephan, Antonellis, Anthony, Burgess, Robert W, Baets, Jonathan

“…Abstract Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral…”
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Contact Is Repulsive, but Please Note the “Enclosed” by Burgess, Robert W., Garrett, Andrew M., Tadenev, Abigail L.D.

“…Previous models of neuronal dendrite arborization suggested that contact-dependent self-avoidance between dendrite branches prevents self-crossings within the…”
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