Results 71 to 80 of about 68,407 (296)

Exon organization and novel alternative splicing of Ank3 in mouse heart. [PDF]

open access: yesPLoS ONE, 2015
Ankyrin-G is an adaptor protein that links membrane proteins to the underlying cytoskeletal network. Alternative splicing of the Ank3 gene gives rise to multiple ankyrin-G isoforms in numerous tissues.
Gokay Yamankurt   +3 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld   +9 more
wiley   +1 more source

Erythroid anion transporter assembly is mediated by a developmentally regulated recruitment onto a preassembled membrane cytoskeleton [PDF]

open access: yes, 1987
Analysis of the expression and assembly of the anion transporter by metabolic pulse-chase and steady-state protein and RNA measurements reveals that the extent of association of band 3 with the membrane cytoskeleton varies during chicken embryonic ...
Cox, John V.   +2 more
core   +1 more source

Evolution in Action: Giant Ankyrins Awake [PDF]

open access: yesDevelopmental Cell, 2015
Reporting in Developmental Cell, Stephan et al. (2015) demonstrate critical axonal and presynaptic functions from acquisition of an enormous exon by the Drosophila ank2 gene. They propose that highly elongated ank2-XL molecules, associated with the plasma membrane through spectrin and ank2-L, extend deep into the axoplasm to promote microtubule ...
Bennett, Vann, Walder, Kathryn
openaire   +2 more sources

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

The SET and ankyrin domains of the secreted Legionella pneumophila histone methyltransferase work together to modify host chromatin

open access: yesmBio, 2023
Legionella pneumophila is a bacterial pathogen ubiquitous in natural and man-made aquatic environments, where it replicates in protozoa. Its intracellular life cycle depends on the establishment of a Legionella-containing vacuole (LCV) where the bacteria
Monica Rolando   +6 more
doaj   +1 more source

Schwann Cell TRPA1, a Proalgesic Ion Channel, Mediates Neuroinflammation and Fibromyalgia‐Associated Behaviours in Mice [PDF]

open access: yesJ Neurochem
Cellular and molecular mechanisms contributing to TRPA1‐mediated mechanical and cold hypersensitivity and peripheral neuroinflammation in the reserpine‐induced experimental fibromyalgia model. (1) Macrophage‐originated reactive oxygen species (ROS; purple dots) target the transient receptor potential ankyrin 1 (TRPA1) channel localised in Schwann cells.
Brum E   +7 more
europepmc   +2 more sources

Investigating the role of histone deacetylase HDAC4 in long-term memory formation : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Genetics at Massey University, Manawatu, New Zealand [PDF]

open access: yes, 2016
Listed in 2017 Dean's List of Exceptional ThesesEpigenetic mechanisms are emerging as master regulators of cognitive abilities such as learning and memory.
Schwartz, Silvia
core  

NF-κB regulates neuronal ankyrin-G via a negative feedback loop. [PDF]

open access: yes, 2017
The axon initial segment (AIS) is a neuronal compartment defined by ankyrin-G expression. We here demonstrate that the IKK-complex co-localizes and interacts with the cytoskeletal anchor protein ankyrin-G in immunoprecipitation and proximity-ligation ...
Andresen, Silke   +6 more
core   +1 more source

Research progress on biomarkers of traumatic brain injury

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen   +8 more
wiley   +1 more source

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