Pagnamenta AT - Search Results

1

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Among authors: pagnamenta at. Nat Commun. 2020 Apr 8;11(1):1740. doi: 10.1038/s41467-020-15336-3. Nat Commun. 2020. PMID: 32269217 Free PMC article.

2

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Elpeleg O, et al. Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22. Am J Hum Genet. 2005. PMID: 15877282 Free PMC article.

3

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S. Pagnamenta AT, et al. Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4. Hum Reprod. 2006. PMID: 16595552

4

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039

5

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH. Taanman JW, et al. Among authors: pagnamenta at. Hum Mutat. 2009 Feb;30(2):248-54. doi: 10.1002/humu.20852. Hum Mutat. 2009. PMID: 18828154

6

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. Pagnamenta AT, et al. Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887808 Free PMC article.

7

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.

Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.

8

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U. Pagnamenta AT, et al. Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8. Hum Mol Genet. 2015. PMID: 25855803 Free PMC article.

9

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U. Pagnamenta AT, et al. Clin Case Rep. 2016 Aug 23;4(10):952-956. doi: 10.1002/ccr3.663. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761245 Free PMC article.

10

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J; DDD Study; Kinoshita T, Kini U, Taylor JC. Pagnamenta AT, et al. Hum Mutat. 2018 Jun;39(6):822-826. doi: 10.1002/humu.23420. Epub 2018 Mar 30. Hum Mutat. 2018. PMID: 29573052 Free PMC article.

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