Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Brooke, Sadler"'
Autor:
Shelei Pan, Andrew T. Hale, Mackenzie E. Lemieux, Dhvanii K. Raval, Thomas P. Garton, Brooke Sadler, Kelly B. Mahaney, Jennifer M. Strahle
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
Iron physiology is regulated by a complex interplay of extracellular transport systems, coordinated transcriptional responses, and iron efflux mechanisms. Dysregulation of iron metabolism can result in defects in myelination, neurotransmitter synthes
Externí odkaz:
https://doaj.org/article/20d100e3867e47d5adb1bca73b877438
Autor:
Monty B. Mazer, MD, Isaiah R. Turnbull, MD, PhD, Sydney Miles, BS, Teresa M. Blood, BS, Brooke Sadler, PhD, Annie Hess, MD, Mitchell D. Botney, MD, Robert S. Martin, MD, James P. Bosanquet, MD, David A. Striker, MD, Nitin S. Anand, MD, Michel Morre, DVM, MSc, Charles C. Caldwell, PhD, Scott C. Brakenridge, MD, MSCS, Lyle L. Moldawer, PhD, Jorge A. Di Paola, MD, Richard S. Hotchkiss, MD, Kenneth E. Remy, MD, MHSc, MSCI
Publikováno v:
Critical Care Explorations, Vol 3, Iss 7, p e0500 (2021)
BACKGROUND:. Immunotherapy treatment for coronavirus disease 2019 combined with antiviral therapy and supportive care remains under intense investigation. However, the capacity to distinguish patients who would benefit from immunosuppressive or immun
Externí odkaz:
https://doaj.org/article/1fac6631ade54835940d3bacdc623ba2
Autor:
Gabe, Haller, Brooke, Sadler
Publikováno v:
Neurosurgery Clinics of North America. 34:55-60
Several studies have been performed to elucidate the genetic basis of Chiari I malformation (CM1). The heritability of CM1 is clear from twin studies, familial clustering, and the prevalence of CM1 among certain classes of Mendelian disorders, namely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e9a47954eecf90847e6e416041be35
https://doi.org/10.1016/j.nec.2022.07.001
https://doi.org/10.1016/j.nec.2022.07.001
Autor:
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense varia
Externí odkaz:
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
Autor:
Shilpa Jain, Ayesha Zia, Margaret V. Ragni, Jennifer E. Dietrich, Peter A. Kouides, Robert F. Sidonio, Charles G. Minard, Eric S. Mullins, Gabe Haller, Allison P. Wheeler, Christina A. Gurnett, Sarah H. O'Brien, Lakshmi Srivaths, Brooke Sadler, Mukta Sharma, Roshni Kulkarni, Jorge Di Paola
Publikováno v:
Blood Advances
Key Points HMB is associated with rare and common variants in genes related to anemias and bleeding disorders.These are the first exome-sequencing results from patients with HMB, as well as their comparison with control exomes.
Visual Abstract
Visual Abstract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5e92a9c4c2063ac527bd4534b4ce6f
http://europepmc.org/articles/PMC8791588
http://europepmc.org/articles/PMC8791588
Autor:
Bruno A. Benitez, John P. Budde, Adam Suhy, Richard J. Perrin, Umber Dube, Brooke Sadler, Carlos Cruchaga, Zeran Li, Fengxian Wang, Brett Eiffert, Laura Ibanez, Yun Ju Sung, John C. Morris, Kathie A. Mihindukulasuriya, Oscar Harari, Chengran Yang, Joseph L. Bradley, Anne M. Fagan, Fabiana H.G. Farias, Herve Rhinn, Maria Victoria Fernandez, Jorge A. Bahena
Publikováno v:
Nature neuroscience
Understanding the tissue-specific genetic controls of protein levels is essential to uncover mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic atlas of protein levels in three tissues relevant to neurological d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a5a02806a94c7da8db1f97ff3d0f00
https://doi.org/10.1038/s41593-021-00886-6
https://doi.org/10.1038/s41593-021-00886-6
Publikováno v:
Haemophilia
SUMMARY: Progress in both basic and translational research into the molecular mechanisms of VWD can be seen in multiple fields. GENETICS OF VWD: In the past several decades, knowledge of the underlying pathogenesis of von Willebrand disease (VWD) has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf7e760edc15c099ef2249eff74917b
https://europepmc.org/articles/PMC9094051/
https://europepmc.org/articles/PMC9094051/
Autor:
Momchil Nikolov, Lilian Antunes, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett, Ina E Amarillo, Brooke Sadler, Gabe Haller
Publikováno v:
Journal of Medical Genetics. 57:851-857
IntroductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223af06e00565c33b1d788979dcd9b28
https://doi.org/10.1136/jmedgenet-2020-106842
https://doi.org/10.1136/jmedgenet-2020-106842
Autor:
Gabe Haller, Matthew B. Dobbs, Jennifer Strahle, Timothy Kuensting, Brooke Sadler, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Tae Sung Park
Publikováno v:
Pediatr Neurol
Background Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757be540218d71cb23570c9e808fe10b
https://doi.org/10.1016/j.pediatrneurol.2019.12.005
https://doi.org/10.1016/j.pediatrneurol.2019.12.005
Autor:
Brooke Sadler, Gabe Haller, Howard Edenberg, Jay Tischfield, Andy Brooks, John Kramer, Marc Schuckit, John Nurnberger, Alison Goate
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134393 (2015)
Much of the evolution of human behavior remains a mystery, including how certain disadvantageous behaviors are so prevalent. Nicotine addiction is one such phenotype. Several loci have been implicated in nicotine related phenotypes including the nico
Externí odkaz:
https://doaj.org/article/65249bd98a044ef2874f11aad48cc0c6