2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 1-10. PMID: 39743596, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2019
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing. Clinical Genetics 2019, 96: 473-477. PMID: 31389005, DOI: 10.1111/cge.13617.Peer-Reviewed Original ResearchConceptsChronic Intestinal Pseudo-ObstructionSmooth muscle actin geneMuscle actin geneAdditional genetic evidenceGene burden analysisIntestinal Pseudo-ObstructionRare gastrointestinal disorderSmooth muscle contractionActin geneMyosin genesAdditional genesGenetic evidenceCausal variantsWhole-exome sequencingFamily membersCIPO patientsPseudo-ObstructionGenetic linkageGastrointestinal disordersDominant mutationsGenesUnaffected family membersGastrointestinal tractRare mutationsMuscle contraction