Zobrazeno 1 - 10
of 653
pro vyhledávání: '"Elizabeth, Berry"'
Autor:
Olivia Kim-McManus, Joseph G. Gleeson, Laurence Mignon, Amena Smith Fine, Winston Yan, Nicole Nolen, Scott Demarest, Elizabeth Berry-Kravis, Richard Finkel, Stefanie Leonard, Samuel Finlayson, Erika Augustine, Gholson J. Lyon, Rebecca Schule, Timothy Yu
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-5 (2024)
Abstract Individualized genetic therapies—medicines that precisely target a genetic variant that may only be found in a small number of individuals, as few as only one—offer promise for addressing unmet needs in genetic disease, but present uniqu
Externí odkaz:
https://doaj.org/article/d09e0d96a7a24a5591836fda1643ffe2
Autor:
James J. Fink, Nathaniel Delaney-Busch, Ryan Dawes, Evanthia Nanou, Christopher Folts, Karthiayani Harikrishnan, Chris Hempel, Hansini Upadhyay, Trinh Nguyen, Himali Shroff, David Stoppel, Steven J. Ryan, Jane Jacques, Jennifer Grooms, Elizabeth Berry-Kravis, Mark F. Bear, Luis A. Williams, David Gerber, Mark Bunnage, Brinley Furey, Graham T. Dempsey
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-15 (2024)
Abstract Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by hypermethylation of expanded CGG repeats (>200) in the FMR1 gene leading to gene silencing and loss of Fragile X Messenger Ribonucleoprotein (FMRP) expression. FMRP plays im
Externí odkaz:
https://doaj.org/article/4c3520c6a9254e29bb6412e3a3c39efa
Autor:
Andrew Dakopolos, Emma Condy, Elizabeth Smith, Danielle Harvey, Aaron J. Kaat, Jeanine Coleman, Karen Riley, Elizabeth Berry-Kravis, David Hessl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM–5). Although
Externí odkaz:
https://doaj.org/article/dc46a7d97aa6490181482ff803993f41
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Autor:
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone
Publikováno v:
SAGE Open Medicine, Vol 12 (2024)
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The
Externí odkaz:
https://doaj.org/article/4350d693f92447c5b032e073bc4ebe02
Autor:
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 8, Pp 100600- (2024)
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol. The precise pathogenic mechanism of NPC1 remains i
Externí odkaz:
https://doaj.org/article/69e323f6f49244688375dc2088920f9e
Autor:
Roslyn Harold, Bridgette Kelleher, Keisha Novak, Wei Siong Neo, Teagan Stump, Taylor Lee, Tessa Garwood, Elizabeth Berry-Kravis, Dan Foti
Publikováno v:
Journal of Mood and Anxiety Disorders, Vol 6, Iss , Pp 100068- (2024)
The etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor. A relevant population for this approach is wome
Externí odkaz:
https://doaj.org/article/fab7f5e5c4844062a2ec5c1a78c8df51
Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
Publikováno v:
Neurobiology of Disease, Vol 194, Iss , Pp 106486- (2024)
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene tha
Externí odkaz:
https://doaj.org/article/bd4c2ff882ad436e9388c5261b14161c
24. Prevention Of Radiation-induced Ferroptosis In The Skin Alleviates Formation Of Chronic Fibrosis
Autor:
Charlotte Elizabeth Berry, BA, Michelle Griffin, MBChB, PhD, Carter Kendig, BA, Thalia Le, BS, Alexander Z. Fazilat, Undergraduate Student, Lionel Kameni, MD, Annah G. Morgan, BS, Michael Longaker, MD, Derrick C. Wan, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 12, Iss S4, Pp 17-18 (2024)
Externí odkaz:
https://doaj.org/article/5a3b5b2fbf3c4c67aac3b9e7b654e9bc
Autor:
Jorrit Tjeertes, Carlos A. Bacino, Terry Jo Bichell, Lynne M. Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W. Komorowski, Michelle L. Krishnan, Meghan T. Miller, David Nobbs, Cesar Ochoa-Lubinoff, Kimberly A. Parkerson, Alexander Rotenberg, Anjali Sadhwani, Mark D. Shen, Lisa Squassante, Wen-Hann Tan, Brenda Vincenzi, Anne C. Wheeler, Joerg F. Hipp, Elizabeth Berry-Kravis
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-21 (2023)
Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data
Externí odkaz:
https://doaj.org/article/ef450fe783de498baf723d4e7e4e74fb