Diagnosis and treatment of MN1 C‐terminal truncation syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1965
Abstract: MN1 C‐terminal truncation (MCTT) is a rare syndrome; only 27 cases have been reported. We report the first case of an 8‐year‐old girl with MCTT syndrome complicated with moderate obstructive sleep apnea (OSA). read more here.
Keywords: diagnosis treatment; mn1 terminal; truncation syndrome; terminal truncation ... See more keywords
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0041-1728650
Abstract: Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such… read more here.
Keywords: mn1 gene; mn1 terminal; terminal truncation; craniofacial anomalies ... See more keywords
Identification of novel amyloidosis in dogs: α-S1-casein acquires amyloidogenicity in mammary tumor by overexpression and N-terminal truncation
Sign Up to like & getrecommendations! Published in 2023 at "Veterinary Pathology"
DOI: 10.1177/03009858221148511
Abstract: Mammary tumor–associated amyloidosis (MTAA) in dogs is characterized by amyloid deposition in the stroma of mammary adenoma or carcinoma; however, the amyloid precursor protein remains unknown. We attempted to identify an amyloid precursor protein and… read more here.
Keywords: acquires amyloidogenicity; casa1; mammary tumor; terminal truncation ... See more keywords
Low-Expressing Synucleinopathy Mouse Models Based on Oligomer-Forming Mutations and C-Terminal Truncation of α-Synuclein
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2021.643391
Abstract: α-synuclein (αSyn) is the main protein component of Lewy bodies, intracellular inclusions found in the brain of Parkinson’s disease (PD) patients. Neurotoxic αSyn species are broadly modified post-translationally and, in patients with genetic forms of… read more here.
Keywords: mouse models; syn; terminal truncation; mice ... See more keywords