Search Results - "Sheikh, Taimoor I."

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability by Sheikh, Taimoor I., Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C., Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, Vincent, John B.

“…PIDD1 encodes p53-Induced Death Domain protein 1, which acts as a sensor surveilling centrosome numbers and p53 activity in mammalian cells. Early results also…”
Get full text

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2 by Martínez de Paz, Alexia, Khajavi, Leila, Martin, Hélène, Claveria-Gimeno, Rafael, Tom Dieck, Susanne, Cheema, Manjinder S, Sanchez-Mut, Jose V, Moksa, Malgorzata M, Carles, Annaick, Brodie, Nick I, Sheikh, Taimoor I, Freeman, Melissa E, Petrotchenko, Evgeniy V, Borchers, Christoph H, Schuman, Erin M, Zytnicki, Matthias, Velazquez-Campoy, Adrian, Abian, Olga, Hirst, Martin, Esteller, Manel, Vincent, John B, Malnou, Cécile E, Ausió, Juan

“…MeCP2-a chromatin-binding protein associated with Rett syndrome-has two main isoforms, MeCP2-E1 and MeCP2-E2, differing in a few N-terminal amino acid…”
Get full text

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment by Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I, Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T, Uebe, Steffen, Reis, André, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B, Jamra, Rami Abou

“…There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in…”
Get full text

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations by Mok, Rebecca S. F., Zhang, Wenbo, Sheikh, Taimoor I., Pradeepan, Kartik, Fernandes, Isabella R., DeJong, Leah C., Benigno, Gabriel, Hildebrandt, Matthew R., Mufteev, Marat, Rodrigues, Deivid C., Wei, Wei, Piekna, Alina, Liu, Jiajie, Muotri, Alysson R., Vincent, John B., Muller, Lyle, Martinez-Trujillo, Julio, Salter, Michael W., Ellis, James

“…Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a…”
Get full text

Expression of EBV encoded viral RNA 1, 2 and anti-inflammatory cytokine (interleukin-10) in FFPE lymphoma specimens: a preliminary study for diagnostic implication in Pakistan by Sheikh, Taimoor I, Qadri, Ishtiaq

“…Epstein Barr Virus (EBV) plays a significant role as a cofactor in the process of tumorigenesis and has consistently been associated with a variety of…”
Get full text

MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro by Sheikh, Taimoor I., Harripaul, Ricardo, Ayub, Muhammad, Vincent, John B.

“…Mutations in the methyl‐CpG‐binding protein‐2 gene (MECP2) are commonly associated with Rett syndrome. However, it has long been appreciated that there exists…”
Get full text

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation by Sheikh, Taimoor I, de Paz, Alexia Martínez, Akhtar, Shamim, Ausió, Juan, Vincent, John B

“…Methyl CpG-binding protein 2 (MeCP2), the mutated protein in Rett syndrome (RTT), is a crucial chromatin-modifying and gene-regulatory protein that has two…”
Get full text

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans by Fattahi, Zohreh, Sheikh, Taimoor I, Musante, Luciana, Rasheed, Memoona, Taskiran, Ibrahim Ihsan, Harripaul, Ricardo, Hu, Hao, Kazeminasab, Somayeh, Alam, Muhammad Rizwan, Hosseini, Masoumeh, Larti, Farzaneh, Ghaderi, Zhila, Celik, Arzu, Ayub, Muhammad, Ansar, Muhammad, Haddadi, Mohammad, Wienker, Thomas F, Ropers, Hans Hilger, Kahrizi, Kimia, Vincent, John B, Najmabadi, Hossein

“…Abstract Exploring genes and pathways underlying intellectual disability (ID) provides insight into brain development and function, clarifying the complex…”
Get full text

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2 by Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.

“…Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene…”
Get full text

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization by Sheikh, Taimoor I, Harripaul, Ricardo, Vasli, Nasim, Ghadami, Majid, Santangelo, Susan L, Ayub, Muhammad, Sasanfar, Roksana, Vincent, John B

“…Nucleolin (NCL/C23; OMIM: 164035) is a major nucleolar protein that plays a critical role in multiple processes, including ribosome assembly and maturation,…”
Get full text

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient by Sheikh, Taimoor I, Mittal, Kirti, Willis, Mary J, Vincent, John B

“…Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de…”
Get full text

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 by Ahmed, Iltaf, Mittal, Kirti, Sheikh, Taimoor I., Vasli, Nasim, Rafiq, Muhammad Arshad, Mikhailov, Anna, Ohadi, Mehrnaz, Mahmood, Huda, Rouleau, Guy A., Bhatti, Attya, Ayub, Muhammad, Srour, Myriam, John, Peter, Vincent, John B.

“…Mirror movements (MRMV) are involuntary movements on one side of the body that mirror voluntary movements on the opposite side. Congenital mirror movement…”
Get full text