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Page 1
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.
Mok RSF, Zhang W, Sheikh TI, Pradeepan K, Fernandes IR, DeJong LC, Benigno G, Hildebrandt MR, Mufteev M, Rodrigues DC, Wei W, Piekna A, Liu J, Muotri AR, Vincent JB, Muller L, Martinez-Trujillo J, Salter MW, Ellis J. Mok RSF, et al. Among authors: sheikh ti. Transl Psychiatry. 2022 Oct 18;12(1):450. doi: 10.1038/s41398-022-02216-1. Transl Psychiatry. 2022. PMID: 36253345 Free PMC article.
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Sheikh TI, Vasli N, Pastore S, Kharizi K, Harripaul R, Fattahi Z, Pande S, Naeem F, Hussain A, Mir A, Islam O, Girisha KM, Irfan M, Ayub M, Schwarzer C, Najmabadi H, Shukla A, Sladky VC, Braun VZ, Garcia-Carpio I, Villunger A, Vincent JB. Sheikh TI, et al. Transl Psychiatry. 2021 Jan 5;11(1):1. doi: 10.1038/s41398-020-01158-w. Transl Psychiatry. 2021. PMID: 33414379 Free PMC article.
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.
Martínez de Paz A, Khajavi L, Martin H, Claveria-Gimeno R, Tom Dieck S, Cheema MS, Sanchez-Mut JV, Moksa MM, Carles A, Brodie NI, Sheikh TI, Freeman ME, Petrotchenko EV, Borchers CH, Schuman EM, Zytnicki M, Velazquez-Campoy A, Abian O, Hirst M, Esteller M, Vincent JB, Malnou CE, Ausió J. Martínez de Paz A, et al. Among authors: sheikh ti. Epigenetics Chromatin. 2019 Oct 10;12(1):63. doi: 10.1186/s13072-019-0298-1. Epigenetics Chromatin. 2019. PMID: 31601272 Free PMC article.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: sheikh ti. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB. Ahmed I, et al. Among authors: sheikh ti. Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7. Hum Genet. 2014. PMID: 25098561
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