Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1889-9
Abstract: Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association… read more here.
Keywords: evidence; association; otosclerosis; tgfb1 ... See more keywords
THE CONNECTION BETWEEN AUTISM SPECTRUM DISORDER AND THE SCN2A AND RENL GENES
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DOI: 10.1016/j.jcyt.2021.02.101
Abstract: Background The incidence of autistic spectrum disorder (ASD) is growing, but the pathophysiology and the etiology is still uncertain. This disorder is caused by genetic and environmental factors causality, with the SCN2A and RELN genes… read more here.
Keywords: im5; reln; spectrum disorder; disorder ... See more keywords
Single-cell trajectory analysis of human homogenous neurons carrying a rare RELN variant
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DOI: 10.1038/s41398-018-0177-8
Abstract: Reelin is a protein encoded by the RELN gene that controls neuronal migration in the developing brain. Human genetic studies suggest that rare RELN variants confer susceptibility to mental disorders such as schizophrenia. However, it… read more here.
Keywords: single cell; reln variant; analysis; reln ... See more keywords
Generation and analysis of novel Reln‐deleted mouse model corresponding to exonic Reln deletion in schizophrenia
Sign Up to like & getrecommendations! Published in 2020 at "Psychiatry and Clinical Neurosciences"
DOI: 10.1111/pcn.12993
Abstract: A Japanese individual with schizophrenia harboring a novel exonic deletion in RELN was recently identified by genome‐wide copy‐number variation analysis. Thus, the present study aimed to generate and analyze a model mouse to clarify whether… read more here.
Keywords: schizophrenia; generation analysis; deletion; model ... See more keywords