Results 41 to 50 of about 1,875 (199)
Background The carboxyl terminal of Epstein-Barr virus (EBV) ZEBRA protein (also termed BZLF-1 encoded replication protein Zta or ZEBRA) binds to both NF-κB and p53. The authors have previously suggested that this interaction results from an ankyrin-like
Ghoda Lucy Y +3 more
doaj +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Current knowledge of sponge microbiome functioning derives mostly from comparative analyses with bacterioplankton communities. We employed a metagenomics-centered approach to unveil the distinct features of the Spongia officinalis endosymbiotic ...
Elham Karimi +6 more
doaj +1 more source
Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels [PDF]
Abstract Ankyrin B (AnkB) is an adaptor and scaffold for motor proteins and various ion channels that is ubiquitously expressed, including in the brain. AnkB has been associated with neurological disorders such as epilepsy and autism spectrum disorder, but understanding of the underlying mechanisms is limited.
Catherine S. W. Choi +5 more
openaire +5 more sources
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Tackling cancer stemness with nanotechnology in the era of precision medicine
Precise customization of nanoparticles (NPs) enables active targeting of cancer stem cells (CSCs), thereby improving drug delivery and therapeutic efficacy. NP‐based probing enhances CSC detection through imaging and liquid biopsy, whereas diverse therapeutic payloads improve therapeutic outcomes.
Shaolei Guo +9 more
wiley +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
Structural Requirements for Association of Neurofascin with Ankyrin [PDF]
This paper presents the first structural analysis of the cytoplasmic domain of neurofascin, which is highly conserved among the L1CAM family of cell adhesion molecules, and describes sequence requirements for neurofascin-ankyrin interactions in living cells.
X, Zhang +3 more
openaire +2 more sources
KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini +6 more
wiley +1 more source
Molecular Evolution of the Ankyrin Gene Family [PDF]
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Human mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis.
Xinjiang, Cai, Yanhong, Zhang
openaire +2 more sources

