Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.05.002
Abstract: TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed non-oncogenic activities related to multiciliogenesis. Utilizing whole-exome sequencing analysis in a… read more here.
Keywords: tp73 cause; lissencephaly; mucociliary clearance; microscopy ... See more keywords
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
Sign Up to like & getrecommendations! Published in 2020 at "Neuron"
DOI: 10.1016/j.neuron.2020.01.027
Abstract: Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant… read more here.
Keywords: pathogenic variants; lis; lissencephaly; predominant ... See more keywords
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Psychiatry"
DOI: 10.1038/mp.2017.175
Abstract: Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment… read more here.
Keywords: vitro model; lissencephaly; disease; dcx ... See more keywords
Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
Sign Up to like & getrecommendations! Published in 2022 at "Acta medica portuguesa"
DOI: 10.20344/amp.18606
Abstract: Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be depicted on… read more here.
Keywords: lissencephaly; variants coq2; pathologic variants; biallelic pathologic ... See more keywords