Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Suma P. Shankar"'
Autor:
Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Background Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verb
Externí odkaz:
https://doaj.org/article/adafd90374a5420e863526f399ca94f6
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101613- (2022)
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease. Observations: Detailed eye evaluations, including visual acuity, visual field, slit l
Externí odkaz:
https://doaj.org/article/dbb2179bcfca475c8c18d5c90a54adf6
Autor:
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. M
Externí odkaz:
https://doaj.org/article/5e779a69a2964f6c8462aa2e8b74ad76
Autor:
Rossana L. Sanchez, Jiong Yan, Sarah Richards, Gary Mierau, Eric P. Wartchow, Christin D. Collins, Suma P. Shankar
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 4, Iss C, Pp 50-53 (2016)
Purpose: To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations: Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical c
Externí odkaz:
https://doaj.org/article/a257f76cad4241808ead7de8fd49ed3a
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Autor:
Kenneth A. Myers, Ebba Alkhunaizi, Michelle M. Morrow, Jiddeke J.P. van de Kamp, Elysa J. Marco, Suma P. Shankar, Harvey B. Sarnat, Marwan Shinawi, Jacqueline L. Steele, Megan Glassford, Colette P. DeFilippo, Tracy Brandt, Amy Waldman, Houda Zghal Elloumi, Holly Dubbs, Ganka Douglas, Sumit Parikh, Kristin G. Monaghan, Cyril Mignot, David Chitayat, Bénédicte Héron, Linda E. Kim, Farrah Rajabi, Shane C. Quinonez, William D. Graf, Mark C. Hannibal, Aravindhan Veerapandiyan
Publikováno v:
Steele, J L, Morrow, M M, Sarnat, H B, Alkhunaizi, E, Brandt, T, Chitayat, D A, DeFilippo, C P, Douglas, G V, Dubbs, H A, Elloumi, H Z, Glassford, M R, Hannibal, M C, Héron, B, Kim, L E, Marco, E J, Mignot, C, Monaghan, K G, Myers, K A, Parikh, S, Quinonez, S C, Rajabi, F, Shankar, S P, Shinawi, M S, van de Kamp, J J P, Veerapandiyan, A, Waldman, A T & Graf, W D 2022, ' Semaphorin-Plexin Signaling : From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome ', Pediatric Neurology, vol. 126, pp. 65-73 . https://doi.org/10.1016/j.pediatrneurol.2021.10.008
Pediatric Neurology, 126, 65-73. Elsevier Inc.
Pediatric Neurology, 126, 65-73. Elsevier Inc.
Background: Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X chromosome that encodes the most widely expres
Autor:
Suma P. Shankar, Terri L. Young, Reshmitha Fallurin, Tonya Watson, Deborah Orel-Bixler, Katherine A. Rauen, Prabhu Rv Shankar
Publikováno v:
Ophthalmic Genetics. 43:48-57
Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants inVisual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboringFifty-six molecularly diagnosed CS
Autor:
Arupa Ganguly, Matthew J. Ferber, Madhuri R Hegde, Patti Krautscheid, Rondell P. Graham, Suma P. Shankar, Rong Mao
Publikováno v:
Genetics in Medicine. 23:1807-1817
Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all cases of CRC are believed to have a familial component and up to one-third of these (10%) are hereditary. Pathogenic germline variants in multiple genes have been a
Autor:
Suma P. Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G. Monaghan, Joel Krier, Joan Stoler, Maha Alnemer, Prabhu R. Shankar, Raffael Schaffrath, Fowzan S. Alkuraya, Ulrich Brinkmann, Leif A. Eriksson, Kent Lloyd, Katherine A. Rauen, Maria T. Acosta, Margaret Adam, David R. Adams, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D'Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew Deardorff, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Madison P. Goldrich, Alana Grajewski, Irma Gutierrez, Don Hadley, Sihoun Hahn, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Mariko Nakano-Okuno, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Deepak A. Rao, Anna Raper, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L.M. Tan, K.-G. Queenie, Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz-Hubshman, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Diane B. Zastrow, Zhe Zhang, Chunli Zhao, Stephan Zuchner, Hugo Bellen, Rachel Mahoney
Publikováno v:
Genet Med
Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).Molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2849ecd621bdfbc498f29cf1d7b8323a
https://europepmc.org/articles/PMC9598985/
https://europepmc.org/articles/PMC9598985/
Autor:
Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language, gait ab
Autor:
Pramod K. Mistry, Evgueniy Hadjiev, Sebastiaan J.M. Gaemers, Suma P. Shankar, Marwan Ghosn, Sarit Assouline, Andres Ortega, Heather Lau, Seymour Packman, Sumita Danda, Elena Lukina, M. Judith Peterschmitt, Hagit Baris Feldman, Milan Petakov, Hadhami Ben Turkia, Meredith C. Foster, Atul Mehta, Manisha Balwani
Publikováno v:
American Journal of Hematology
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically sign