Citations
Mayo Clinic
2 citation(s) found for "Urv, T".
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Akula, Shyam K. , Marciano, Jack H. , Lim, Youngshin , Exposito-Alonso, David , Hylton, Norma K. , Hwang, Grace H. , Neil, Jennifer E., Dominado, Nicole , Bunton-Stasyshyn, Rosie , Song, Janet , Talukdar, Maya , Schmid, Aloisia, Teboul, Lydia , Mo, Alisa , Finander, Benjamin , Beck, Samantha G., Yeh, Rebecca C., Otani, Aoi, Qian, Xuyu , DeGennaro, Ellen M. , Alkuraya, Fowzan S. , Maddirevula, Sateesh , Cascino, Gregory D. , Network, Undiagnosed Diseases, Burrage, Lindsay C. , Rosenfield, Jill A., Ketkar, Shamika , Clark, Gary, Bacino, Carlos A. , Lewis, Richard A. , Segal, Rosalind A. , Bazán, J. Fernando , Smith, K. A. , Golden, Jeffrey A. , Cho, Ginam , Walsh, Christopher A. , Alejandro, Mercedes E., Ashley, Euan A. , Baker, Eva H. , Balasubramanyam, Ashok , Barseghyan, Hayk , Batzli, Gabriel F., Bernstein, Jonathan A. , Bican, Anna, Bick, David , Birch, Camille L., Boone, Braden, Bostwick, Bret L. , Briere, Lauren C. , Brokamp, Elly , Brush, Matthew , Chen, Shan , Coakley, Terra R., Cobban, Laurel A., Colley, Heather A., Cooper, Cynthia M. , Craigen, William J., D’Souza, Precilla , Davids, Mariska, Davidson, Jean M. , Dayal, Jyoti G. , Dell’Angelica, Esteban C., Dhar, Shweta U. , Dipple, Katrina M. , Dorrani, Naghmeh, Dorset, Daniel C., Douglas, Jessica, Draper, David D., Dries, Annika M., Eckstein, David J. , Emrick, Lisa , Eng, Christine M. , Enns, Gregory M. , Eskin, Ascia , Esteves, Cecilia, Estwick, Tyra, Fernández, Liliana, Fogel, Brent L. , Friedman, Noah D., Gahl, William A. , Godfrey, Rena A., Goldstein, David B. , Gould, Sarah E., Groden, Catherine, Hamid, Rizwan , Hanchard, Neil A. , High, Frances A. , Hom, Jason , Howerton, Ellen M. , Jamal, Fariha , Jiang, Yong‐hui , Johnston, Jean M., Karaviti, Lefkothea , Kelley, Emily G., Koeller, David M. , Kohane, Isaac S. , Kohler, Jennefer N., Korrick, Susan , Kozuira, Mary, Krasnewich, Donna M., Krier, Joel B. , Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly , Lee, Brendan , Lee, Hane , Lewis, Richard A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A. , Maduro, Valerie V. , Majcherska, Marta M., Malicdan, May Christine V. , Mamounas, Laura A., Manolio, Teri A. , Markello, Thomas C. , Martín, Martín G., Marwaha, Shruti , May, Thomas , McConkie‐Rosell, Allyn , McCormack, Colleen E., McCray, Alexa T. , Merker, Jason D. , Moretti, Paolo , Morimoto, Marie , Murdock, David R. , Muzny, Donna M., Nehrebecky, Michele, Nelson, Stan F., Newberry, J. Scott, Newman, John H. , Nicholas, Sarah K. , Novacic, Donna, Orengo, James P. , Pallais, J. Carl , Palmer, Christina G.S. , Papp, Jeanette C. , Parker, Neil H., Peña, Loren D.M. , Phillips, John A., Potocki, Lorraine , Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H. , Sampson, Jacinda B. , Samson, Susan L. , Schoch, Kelly, Shakachite, Lisa, Sharma, Prashant , Shashi, Vandana , Signer, Rebecca , Silverman, Edwin K. , Smith, Kevin S., Spillmann, Rebecca C. , Stoler, Joan M. , Sullivan, Jennifer A. , Tan, Queenie K.‐G., Tan, Wen-Haan, Toro, Camilo , Tran, Alyssa A., Urv, Tiina K. , Vogel, Tiphanie P. , Waggott, Daryl, Wahl, Colleen E., Walker, Melissa , Walley, Nicole M., Wan, Jijun , Ward, Patricia A., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A. , Yang, Yaping , Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B. , Zhao, Chunli , Zheng, Allison, Bunton-Stasyshyn, Rosie K , DeGennaro, Ellen M , Cascino, Gregory D , Giannini, Caterina , Burrage, Lindsay C , Rosenfield, Jill A , Bacino, Carlos , Lewis, Richard A , Segal, Rosalind A , Bazan, J Fernando , Smith, Kelly A , Golden, Jeffrey A , Cho, Ginam , Walsh, Christopher A , Alkuraya, Fowzan S , Akula, Shyam K , Shin, Taehwan , Giannini, Caterina , Network, Undiagnosed Diseases, Adams, David R. , Aday, Aaron W. , Allard, Patrick , Azamian, Mahshid S. , Beggs, Alan H. , Behnam, Babak , Bellen, Hugo J. , Berry, Gerard T. , Bonner, Devon E. , Brown, Donna M. , Burke, Elizabeth A. , Butte, Manish J. , Cogan, Joy D. , Cope, Heidi , D’Souza, Precilla , Douine, Emilie D. , Ferreira, Carlos R , Fieg, Elizabeth L. , Fisher, Paul Graham , Goldman, Alica M. , Gourdine, Jean-Philippe F. , Gropman, Andrea L , Haendel, Melissa , Holm, Ingrid A. , Huang, Yong , Jones, Angela , Kyle, Jennifer E , Lalani, Seema R , Levy, Shawn , Lewis, Richard A., Loo, Sandra K. , Macnamara, Ellen F. , Marom, Ronit , Martínez-Agosto, Julián A. , May, Thomas, Metz, Thomas , Might, Matthew , Mochida, Ganeshwaran H. , Mulvihill, John Joseph , Murphy, Jennifer L. , Muzny, Donna M. , Orange, Jordan S. , Phillips, John A., Posey, Jennifer E , Postlethwait, John H. , Reuter, Chloe M. , Rosenfeld, Jill A. , Scott, Daryl A , Sinsheimer, Janet S. , Stong, Nicholas , Sweetser, David A , Tifft, Cynthia , Vilain, Eric J. N. , Walley, Nicole M., Wangler, Michael F , Waters, Katrina M. , Webb‐Robertson, Bobbie‐Jo , Wheeler, Matthew T , Worthey, Elizabeth A. , Yamamoto, Shinya , Yang, John Jeongseok
Proceedings of the National Academy of Sciences | January 20, 2023 | Volume: 120 | Issue: 4 | Pages: No page available
10.1073/pnas.2209964120
| PMID 36669111
Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed multiple individuals with biallelic deleterious variants in TMEM161B , which encodes a multi-pass transmembrane protein of unknown function. Tmem161b null mice demonstrated holoprosencephaly, craniofacial midline defects, eye defects, and spinal cord patterning changes consistent with impaired Shh signaling, but were without limb defects, suggesting a CNS-specific role of Tmem161b. Tmem161b depletion impaired the response to Smoothened activation in vitro and disrupted cortical histogenesis in vivo in both mouse and ferret models, including leading to abnormal gyration in the ferret model. Tmem161b localizes non-exclusively to the primary cilium, and scanning electron microscopy revealed shortened, dysmorphic, and ballooned ventricular zone cilia in the Tmem161b null mouse, suggesting that the Shh-related phenotypes may reflect ciliary dysfunction. Our data identify TMEM161B as a regulator of cerebral cortical gyration, as involved in primary ciliary structure, as a regulator of Shh signaling, and further implicate Shh signaling in human gyral development.
The longitudinal relationship between patient-reported outcomes and clinical characteristics among patients with focal segmental glomerulosclerosis in the Nephrotic Syndrome Study Network
Troost, Jonathan P. , Waldo, Anne, Carlozzi, Noelle E. , Murphy, Shannon L., Modersitzki, Frank , Trachtman, Howard , Nachman, Patrick H. , Reidy, Kimberly J. , Selewski, David T. , Herreshoff, Emily, Srivastava, Tarak, Gibson, Keisha L. , Derebail, Vimal K. , Lin, Jen Jar, Hingorani, Sangeeta, Sambandam, Kamalanathan K. , Athavale, Ambarish M., Reich, Heather N. , Adler, Sharon G. , Dell, Katherine M., Appel, Gerald B., Wang, Chia-shi , Kaskel, Frederick J. , Lafayette, Richard , Atkinson, Meredith A. , Kretzler, Matthias , Lemley, Kevin V. , Brown, Elizabeth , Meyers, Kevin , Gadegbeku, Crystal A., Holzman, Lawrence B. , Jefferson, Jonathan Ashley, Tuttle, Katherine R, Singer, Pamela, Hogan, Marie C. , Cattran, Daniel C., Network, the Nephrotic Syndrome Study, Dell, K, Schachere, M., Lemley, K, Whitted, L, Haney, Connie J, Gurusinghe, Sayuri , Toledo, Michelly Louise Sartório Altoé, Greenbaum, L, Wang, C, Lee, B, Nast, Cynthia C. , Page, J La, Stroger, John H, Itteera, M. , Neu, Alicia M. , Boynton, Sara Ashley, Chernitskiy, Vladimir, Reidy, K, Kopp, J, Castro-Rubio, E, Brede, E, Blake, J. Thomas, Modersitzki, F, Lafayette, R, Mehta, K. , Johnstone, Duncan B., Pfeffer, Zoe, Cattran, D, Hladunewich, M, Reich, H, Ling, P., Romano, M, Barisoni, L, Bidot, Carlos, Kretzler, M, Williams, A, Pitter, R, Gibson, K, Grubbs, S, Froment, Anne, Holzman, L, Kallem, K., Cerecino, F J, Johnson, N, Jefferson, A, Tuttle, Katherine R. , Klepach, K, Kelton, M, Cooper, Ann , Lin, J J, Spainhour, Mitzie, Gray, S, Barisoni, L, Gillespie, B, Gipson, D, Holzman, L, Mariani, Laura , Song, Peter X.‐K. , Kincaid, Colleen, Lienczewski, Chrysta, Mainieri, T, Williams, Anna , Ávila-Casado, Carmen , Bagnasco, Serena M. , Gaut, Joseph P. , Hewitt, Stephen M. , Palmer, M, Rosenberg, A, Royal, Virginie , Barisoni, L, Nast, C, Roy, Cindy N., Urv, T, Dell, K, Greenbaum, L, Lee, B, Page, J La, Stroger, John H, Reidy, K, Kopp, J, Brede, E, Modersitzki, F, Lafayette, R, Gadegbeku, C, Cattran, D, Hladunewich, M, Reich, H, Romano, M, Pitter, R, Gibson, K, Cerecino, F J, Jefferson, A, Lin, J J, Gray, S, Kretzler, M, Gillespie, B, Gipson, D, Mariani, L, Mainieri, T, Williams, A, Mariani, L, Palmer, M, Rosenberg, A, Barisoni, L, Urv, T, Wang, Chia-Shi , Tuttle, Katherine R , Hogan, Marie C , Fornoni, Alessia , Fervenza, Fernando C. , Kopp, Jeffrey B. , Greenbaum, Larry A. , Sedor, John R. , Lieske, John C. , Srivastava, Tarak , Hladunewich, Michelle , Tuttle, Katherine R, Singer, Pamela S. , Barisoni, Laura , Gipson, Debbie S , Network, the Nephrotic Syndrome Study, Dell, K, Lemley, K, Greenbaum, L, Lee, B, Page, J La, Stroger, John H, Reidy, K, Kopp, J, Brede, E, Zhdanova, Olga A. , Modersitzki, F, Vento, Sandro , Lafayette, R, Cattran, D, Hladunewich, M, Reich, H, Romano, M, Barisoni, L, Bidot, C, Kretzler, M, Williams, A, Pitter, R, Gibson, K, Holzman, L, Cerecino, F J, Jefferson, A, Freedman, Barry I. , Lin, J J, Gray, S, Barisoni, L, Gillespie, B, Gipson, D, Holzman, L, Sampson, Matthew Gordon , Zee, Jarcy , Mainieri, T, Hodgin, Jeffrey B. , Palmer, M, Rosenberg, A, Thomas, D, Barisoni, L, Nast, C, Abbott, Kevin C. , Roy, C, Urv, T, Brooks, Philip John , Dell, K, Greenbaum, L, Lee, B, Page, J La, Stroger, John H, Reidy, K, Kopp, J, Brede, E, Modersitzki, F, Lafayette, R, Gadegbeku, C, Cattran, D, Hladunewich, M, Reich, H, Romano, M, Bidot, C, Pitter, R, Gibson, K, Cerecino, F J, Jefferson, A, Lin, J J, Gray, S, Kretzler, M, Gillespie, B, Gipson, D, Mariani, L, Mainieri, T, Williams, A, Mariani, L, Palmer, M, Rosenberg, A, Thomas, D, Barisoni, L, Roy, C, Urv, T, Troost, Jonathan P.
Clinical Kidney Journal | July 3, 2019 | Volume: 13 | Issue: 4 | Pages: 597-606
10.1093/ckj/sfz092
| PMID 32905199
Abstract Background Understanding the relationship between clinical and patient-reported outcomes (PROs) will help support clinical care and future clinical trial design of novel therapies for focal segmental glomerulosclerosis (FSGS). Methods FSGS patients ≥8 years of age enrolled in the Nephrotic Syndrome Study Network completed Patient-Reported Outcomes Measurement Information System PRO measures of health-related quality of life (HRQoL) (children: global health, mobility, fatigue, pain interference, depression, anxiety, stress and peer relationships; adults: physical functioning, fatigue, pain interference, sleep impairment, mental health, depression, anxiety and social satisfaction) at baseline and during longitudinal follow-up for a maximum of 5 years. Linear mixed-effects models were used to determine which demographic, clinical and laboratory features were associated with PROs for each of the eight children and eight adults studied. Results There were 45 children and 114 adult FSGS patients enrolled that had at least one PRO assessment and 519 patient visits. Multivariable analyses among children found that edema was associated with global health (−7.6 points, P = 0.02) and mobility (−4.2, P = 0.02), the number of reported symptoms was associated with worse depression (−2.7 per symptom, P = 0.009) and anxiety (−2.3, P = 0.02) and the number of emergency room (ER) visits in the prior 6 months was associated with worse mobility (−2.8 per visit, P < 0.001) and fatigue (−2.4, P = 0.03). Multivariable analyses among adults found the number of reported symptoms was associated with worse function in all eight PROMIS measures and the number of ER visits was associated with worse fatigue, pain interference, sleep impairment, depression, anxiety and social satisfaction. Laboratory markers of disease severity (i.e. proteinuria, estimated glomerular filtration rate and serum albumin) did not predict PRO in multivariable analyses, with the single exception of complete remission and better pain interference scores among children (+9.3, P = 0.03). Conclusions PROs provide important information about HRQoL for persons with FSGS that is not captured solely by the examination of laboratory-based markers of disease. However, it is critical that instruments capture the patient experience and FSGS clinical trials may benefit from a disease-specific instrument more sensitive to within-patient changes.