Taimoor I. Sheikh

Toronto, ON M5T1R8, Canada

Last Updated: 09/26/2026

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Found 15 publications

N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.

N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.

Journal: Molecular genetics & genomic medicine
Published: May 05, 2026

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.

Journal: Seminars in diagnostic pathology
Published: February 22, 2023

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.

Journal: Translational psychiatry
Published: August 16, 2022

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.

Journal: Genes
Published: October 15, 2021

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

Journal: Translational psychiatry
Published: April 02, 2020

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.

Journal: Epigenetics & chromatin
Published: May 18, 2019

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Journal: Human molecular genetics
Published: January 30, 2018

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Journal: Human mutation
Published: November 01, 2017

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.

Journal: Human molecular genetics
Published: May 01, 2017

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Journal: Molecular psychiatry
Published: September 15, 2016

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

Journal: Scientific reports
Published: June 01, 2016

Upregulated hepatic expression of mitochondrial PEPCK triggers initial gluconeogenic reactions in the HCV-3 patients.

Upregulated hepatic expression of mitochondrial PEPCK triggers initial gluconeogenic reactions in the HCV-3 patients.

Journal: Asian Pacific journal of tropical medicine
Published: May 15, 2015
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Last Updated: 09/26/2026