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Items: 10

1.

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.

Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220.

PMID:
29893856
2.

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

Sheikh TI, Harripaul R, Ayub M, Vincent JB.

Hum Mutat. 2018 May;39(5):717-728. doi: 10.1002/humu.23409. Epub 2018 Mar 8.

PMID:
29431277
3.

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

Sheikh TI, de Paz AM, Akhtar S, Ausió J, Vincent JB.

Hum Mol Genet. 2017 Nov 1;26(21):4132-4141. doi: 10.1093/hmg/ddx300.

4.

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

Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.

Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11.

PMID:
28397838
5.

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

Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, MacLeod P, Percy AK, Vincent JB.

Sci Rep. 2016 Dec 8;6:38590. doi: 10.1038/srep38590.

6.

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

Sheikh TI, Adam T, Qadri I.

Asian Pac J Trop Med. 2015 Aug;8(8):618-23. doi: 10.1016/j.apjtm.2015.07.016. Epub 2015 Jul 29.

7.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA.

Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.

8.

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.

Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7.

PMID:
25098561
9.

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.

Sheikh TI, Mittal K, Willis MJ, Vincent JB.

Orphanet J Rare Dis. 2013 Jul 19;8:108. doi: 10.1186/1750-1172-8-108.

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