The Neuron Navigators: Structure, function, and evolutionary history
Neuron navigators (Navigators) are cytoskeletal-associated proteins important for neuron
migration, neurite growth, and axon guidance, but they also function more widely in other …
migration, neurite growth, and axon guidance, but they also function more widely in other …
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Microtubule associated proteins (MAPs) are widely expressed in the central nervous system,
and have established roles in cell proliferation, myelination, neurite formation, axon …
and have established roles in cell proliferation, myelination, neurite formation, axon …
Adaptor protein Abelson interactor 1 in homeostasis and disease
M Petersen, P Dubielecka - Cell Communication and Signaling, 2024 - Springer
Dysregulation of Abelson interactor 1 (ABI1) is associated with various states of disease
including developmental defects, pathogen infections, and cancer. ABI1 is an adaptor …
including developmental defects, pathogen infections, and cancer. ABI1 is an adaptor …
Concerted transcriptional regulation of the morphogenesis of hypothalamic neurons by ONECUT3
M Zupančič, E Keimpema, EO Tretiakov… - Nature …, 2024 - nature.com
Acquisition of specialized cellular features is controlled by the ordered expression of
transcription factors (TFs) along differentiation trajectories. Here, we find a member of the …
transcription factors (TFs) along differentiation trajectories. Here, we find a member of the …
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
RNA sequencing (RNA-seq) has recently been used in translational research settings to
facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in …
facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in …
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is
evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are …
evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are …
Placental PFAS concentrations are associated with perturbations of placental DNA methylation
TM Everson, N Sehgal, K Campbell, DB Barr… - Environmental …, 2025 - Elsevier
The placenta is crucial for fetal development, is affected by PFAS toxicity, and evidence is
accumulating that gestational PFAS perturb the epigenetic activity of the placenta …
accumulating that gestational PFAS perturb the epigenetic activity of the placenta …
Identification of novel genes including NAV2 associated with isolated tall stature
Very tall people attract much attention and represent a clinically and genetically
heterogenous group of individuals. Identifying the genetic etiology can provide important …
heterogenous group of individuals. Identifying the genetic etiology can provide important …
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability …
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in
axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment …
axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment …