Zobrazeno 1 - 10
of 2 361
pro vyhledávání: '"Seema R"'
Autor:
Blake Vuocolo, Roberta Sierra, Daniel Brooks, Christopher Holder, Lauren Urbanski, Keila Rodriguez, Jose David Gamez, Surya Narayan Mulukutla, Ana Hernandez, Alberto Allegre, Humberto Hidalgo, Sarah Rodriguez, Sandy Magallan, Jeremy Gibson, Juan Carlos Bernini, Melanie Watson, Robert Nelson, Lizbeth Mellin-Sanchez, Nancy Garcia, Lori Berry, Hongzheng Dai, Claudia Soler-Alfonso, Kent Carter, Brendan Lee, Seema R. Lalani
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with
Externí odkaz:
https://doaj.org/article/2eb861e20ea74a60b482b03d813e72c5
Autor:
Kira Mascho, Svetlana A. Yatsenko, Cecilia W. Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R. Helvaty, Stephanie Burns Wechsler, Chaya N. Murali, Seema R. Lalani, Vidu Garg, Jennelle C. Hodge, Kim L. McBride, Stephanie M. Ware, Jiuann-Huey Ivy Lin
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction a
Externí odkaz:
https://doaj.org/article/2ea28b86dde34d79982956d3247450a9
Autor:
James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100345- (2024)
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 2
Externí odkaz:
https://doaj.org/article/e0e49cd5da4340678f3756e671807267
Autor:
Onkar A. Lotlikar, Shailesh S. Gurav, Shweta N. Dandekar, Seema R. Jadhav, Afzal B. Shaik, Richie R. Bhandare, Suraj N. Mali
Publikováno v:
Green Chemistry Letters and Reviews, Vol 17, Iss 1 (2024)
Herein, we describe an efficient one-pot three-component microwave and ultrasound-endorsed approaches for synthesizing distinct 5-methylthiazole induced Betti bases (5-methyl-thiazol-2-ylamino-aryl-benzylnapthols) employing silica sulfuric acid (SSA,
Externí odkaz:
https://doaj.org/article/c70f715491924640b6859737c0777139
Publikováno v:
Chemical Physics Impact, Vol 9, Iss , Pp 100694- (2024)
Herein we describe 2-chloroimidazo[1,2-a]pyridine-appended Schiff base and chalcone conjugates, exploring their synthetic, spectrophotometric, biological, and computational aspects. UV–visible study revealed that scaffolds VIc and VIIIa exhibit bat
Externí odkaz:
https://doaj.org/article/0da4504fd8d34d32a63d46b8f17c42fd
Autor:
Shailesh S. Gurav, Krishnakant T. Waghmode, Shweta N. Dandekar, Siddheshwar D. Jadhav, Onkar A. Lotlikar, Seema R. Jadhav, Suraj N. Mali, Jayashri G. Naphade
Publikováno v:
Chemical Physics Impact, Vol 8, Iss , Pp 100494- (2024)
The novel 1-(2-chloroimidazo[1,2-a]pyridin-3-yl)-N-(substitutedphenyl) methanimines have been synthesized and characterized by spectral (IR, MS, 1H, and 13C NMR) and elemental analysis. Molecular docking studies were conducted with three cancer targe
Externí odkaz:
https://doaj.org/article/4517592830f14acca7e958b64aa4d29e
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Autor:
Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 18 (2023)
Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which ma
Externí odkaz:
https://doaj.org/article/3ce4e66e20b2416085e8144a51318ce2
Autor:
Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)
Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined di
Externí odkaz:
https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c
Autor:
Seema R. Patel, Taran S. Lundgren, Wallace Hunter Baldwin, Courtney Cox, Ernest T. Parker, John F. Healey, Ryan P. Jajosky, Patricia E. Zerra, Cassandra D. Josephson, Christopher B. Doering, Sean R. Stowell, Shannon L. Meeks
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Humoral immunity to factor VIII (FVIII) represents a significant challenge for the treatment of patients with hemophilia A. Current paradigms indicate that neutralizing antibodies against FVIII (inhibitors) occur through a classical CD4 T cell, germi
Externí odkaz:
https://doaj.org/article/470104dc411c45558fc574d5808a9c73