User profiles for J. J. MacKenzie

Justin J MacKenzie

University of Utah School of Medicine
Verified email at hsc.utah.edu
Cited by 1151

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

…, K Haude, K McWalter, C Roadhouse, JJ MacKenzie… - Nature, 2020 - nature.com
Activation of RIPK1 controls TNF-mediated apoptosis, necroptosis and inflammatory pathways
1 . Cleavage of human and mouse RIPK1 after residues D324 and D325, respectively, by …

[BOOK][B] The going rate: What it really costs to drive

JJ MacKenzie, RC Dower, DDT Chen - 1992 - 365bettiyuzaixian.net
No other country in the world depends as heavily on motor vehicles as the United States does.
In per capita use, no other developed country even comes close. The average American …

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

…, J Becker, H Engels, S Aretz, JJ MacKenzie… - Nature …, 2021 - nature.com
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale
networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …

[PDF][PDF] SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in …

…, C Roadhouse, JJ MacKenzie… - The American Journal of …, 2021 - cell.com
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a
terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. …

[PDF][PDF] Mutations in the chromatin regulator gene BRPF1 cause syndromic intellectual disability and deficient histone acetylation

…, M McKinnon, L Potocki, JJ MacKenzie… - The American Journal of …, 2017 - cell.com
Identification of over 500 epigenetic regulators in humans raises an interesting question
regarding how chromatin dysregulation contributes to different diseases. Bromodomain and …

Primary care providers' lived experiences of genetics in practice

…, JC Carroll, M Flavin, S Phillips, JJ MacKenzie - Journal of community …, 2019 - Springer
To effectively translate genetic advances into practice, engagement of primary care providers
(PCPs) is essential. Using a qualitative, phenomenological methodology, we analyzed key …

[PDF][PDF] Computational prediction of position effects of apparently balanced human chromosomal rearrangements

…, DJ Harris, D Rita, KW Gripp, JJ MacKenzie… - The American Journal of …, 2017 - cell.com
Interpretation of variants of uncertain significance, especially chromosomal rearrangements
in non-coding regions of the human genome, remains one of the biggest challenges in …

Development of a novel positive psychology-based intervention for couples post-stroke.

AL Terrill, M Reblin, JJ MacKenzie… - Rehabilitation …, 2018 - psycnet.apa.org
Objective: Stroke provides challenges for survivors and partner caregivers. Stroke survivors
and caregivers are interconnected in their emotional health, including depression, a …

Ammonia fuel: the key to hydrogen-based transportation

JJ MacKenzie, WH Avery - 1996 - osti.gov
Ammonia (NH{sub 3}) is a high octane fuel (110) that can replace CO{sub 2} producing fuels
in automobile transportation. It shares with hydrogen the virtue of yielding only water and …

Associations between approach and avoidance coping, psychological distress, and disordered eating among candidates for bariatric surgery

…, AL Terrill, TW Smith, AR Ibele, JJ MacKenzie - Obesity Surgery, 2019 - Springer
Background Individuals seeking bariatric surgery evidence risk for binge and disordered eating
behaviors, which can lead to poorer post-surgical weight loss outcomes. Use of avoidant …