Results 161 to 170 of about 2,419,748 (303)

Constitutive Knockout Mice

CRISPR/Cas9 genome editing technology has revolutionized the way to create animal disease models. Scientists have used this technique numerous times to study the effects of certain genes on the mouse genome. And knockout mice provide impressive insights into the internal workings of the human genome because of the similarity between mouse and human and
openaire   +2 more sources

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

TRPA1 and TRPV1 Receptors Protect the Gastric Mucosa from Ethanol-Induced Injury: Evidence from Knockout Mice. [PDF]

Cells
Zalecki M, Kun J, Juranek J, Antushevich H, Helyes Z, Pintér E.   +5 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Age-Like Methylation Changes of HSCs in GADD45B Knockout Mice Define Methylation Sites Associated With Loss of Function. [PDF]

Aging Cell
Kuribayashi W, Tanaka-Yano M, Park B, Yanai H, Tekin-Turhan F, Beerman I.   +5 more
europepmc   +1 more source

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

Arthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A. Mamas   +8 more
wiley   +1 more source

Anxiety-like behavior in deaf Ebf1 conditional knockout mice. [PDF]

Hear Res
Baxter AN, Hunter SE, Penrod RD, Wilkerson BA.   +3 more
europepmc   +1 more source

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.

Cell, 1999
J. Weng, N. Mata, S. Azarian, Radouil Tzekov, D. Birch, G. Travis   +5 more
semanticscholar   +1 more source

Associations of Sleep and Shift Work With Osteoarthritis Risk

Arthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, for the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry Investigators, David A. Cabral, Gaëlle Chédeville, Ciarán M. Duffy, Kerstin Gerhold, Jaime Guzman, Linda Hiraki, Adam M. Huber, Heinrike Schmeling, Natalie J. Shiff, Lori B. Tucker, Julie Barsalou, Daniah Basodan, Michelle Batthish, Roberta A. Berard, Nicholas Blanchette, Gilles Boire, Roxana Bolaria, Alessandra Bruns, David A. Cabral, Sarah Campillo, Tania Cellucci, Mercedes Chan, Gaëlle Chédeville, Amieleena Chhabra, Julie Couture, Paul Dancey, Jean‐Jacques De Bruycker, Erkan Demirkaya, Muhammed Dhalla, Ciarán M. Duffy, Talal El Tal, Tommy Gerschman, Jaime Guzman, Liane Heale, Julie Herrington, Kristin M. Houghton, Adan M. Huber, Andrea Human, Nicole Johnson, Roman Jurencak, Bianca Lang, Claire LeBlanc, Lillian Lim, Lily S. H. Lim, Nadia Luca, Jeanine McColl, Tara McGrath, Tamara McMillan, Megan McPherson, Paivi Miettunen, Kimberly Morishita, Honyan Ng, Jonathan Park, Jean‐Philippe Proulx‐Gauthier, Johannes Roth, Evelyn Rozenblyum, Dax G. Rumsey, Heinrike Schmeling, Rosie Scuccimarri, Gordon Soon, Rebeka Stevenson, Elizabeth Stringer, Herman Tam, Lori B. Tucker, Marinka Twilt, Ruud H. J. Verstegen, Karen Watanabe Duffy   +81 more
wiley   +1 more source