Disease: Classical Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations in human LIS1 gene cause classical lissencephaly (smooth brain), resulting from defects in neuronal migration. 29470990 2018
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations of PAFAH1B1 cause classical lissencephaly in humans. 28836069 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Whereas both dynein pools share the dynactin complex, they have opposite preferences for binding other regulators, either the adaptor protein Bicaudal-D2 (BicD2) or the multifunctional regulator Lissencephaly-1 (Lis1). 29038173 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE To investigate the potential role of Lis1 in CD133+ glioblastoma cells, we silenced Lis1 gene in U87 cell line obtaining shLis1-U87 cells. 28607604 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Lissencephaly-1 (LIS1) is a highly conserved dynein-regulatory factor that binds directly to the dynein motor domain, uncoupling the enzymatic and mechanical cycles of the motor and stalling dynein on the microtubule track. 28576829 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. 28440899 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Here, we elucidate in vitro the roles of dynactin, end-binding protein-1 (EB1) and Lissencephaly-1 (LIS1) in the interaction of end tracking and minus end-directed human dynein complexes with these sites. 28406398 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE To determine if endogenous Nrg is retrogradely transported, we inhibited two key regulators, Lissencephaly-1 (Lis1) and Dynactin, of the retrograde motor protein Dynein. 28837701 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Retrospective evaluation of 22 patients (8 months-24 years) with genetically and radiologically confirmed LIS1-associated classic lissencephaly in 16 study centers. 26494205 2016
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease GENOMICS_ENGLAND Somatic mutations in cerebral cortical malformations. 25140959 2014
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans. 23483716 2013
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE In addition, genetic defects associated with these and other neurological disorders have been found in multifunctional adaptors that regulate dynein function, including the dynactin subunit p150(Glued), BICD2 (Bicaudal D2), Lis-1 (lissencephaly 1) and NDE1 (nuclear distribution protein E). 24256262 2013
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissencephaly or Miller-Dieker syndrome. 22368300 2012
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome. 20833799 2011
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Classical lissencephaly has been shown to result from mutations in LIS1 (PAFAH1B1; MIM#601545), DCX (Doublecortin; MIM#300121), ARX (Aristaless-related homeobox gene; MIM#300382), RELN (Reelin; MIM#600514) and VLDLR (Very low density lipoprotein receptor; MIM#224050). 20376468 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion. 20452996 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Incorporation of deletion/duplication analysis of the LIS1 and DCX genes will be important for the molecular diagnosis of patients with ILS and SBH. 19050731 2009
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 CausalMutation disease CLINVAR LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 19667223 2009
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. 19136950 2009
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GermlineCausalMutation disease ORPHANET High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 18285425 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). 18384621 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE To identify other susceptibility genes for schizophrenia, we screened for DISC1-interacting molecules [NudE-like (NUDEL), Lissencephaly-1 (LIS1), 14-3-3epsilon (YWHAE), growth factor receptor bound protein 2 (GRB2) and Kinesin family 5A of Kinesen1 (KIF5A)], assessing a total of 25 tagging single-nucleotide polymorphisms (SNPs) in a Japanese population. 18658164 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Hemizygous Lis1 mutations cause type 1 lissencephaly, a neuronal migration disorder in humans. 18075263 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE We report three mutations in exon 11, including a frameshift which extends the LIS1 protein, leading to type 1 lissencephaly and illustrating the functional importance of the WD domains at the C terminus. 17664403 2007