Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype [PDF]
Adijat Adebola+8 more
openalex +1 more source
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong+9 more
wiley +1 more source
Developmental Defect of Enamel in Permanent Teeth Associated With Chronic Endodontic Abscess in Deciduous Teeth: A Retrospective Study. [PDF]
Guglielmi F+3 more
europepmc +1 more source
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease [PDF]
Bernadett Kalmár+9 more
openalex +1 more source
Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang+9 more
wiley +1 more source
Orthodontic considerations for managing patients with functional movement disorders: a narrative review and clinical guide. [PDF]
Al-Jewair T+2 more
europepmc +1 more source
Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng+4 more
wiley +1 more source
Analysis of inorganic ion configuration in enamel hypo mineralization. [PDF]
Vimal Thangaraj G+5 more
europepmc +1 more source