Lupski JR - Search Results

1

Secondary findings and carrier test frequencies in a large multiethnic sample.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Gambin T, et al. Among authors: lupski jr. Genome Med. 2015 Jun 13;7(1):54. doi: 10.1186/s13073-015-0171-1. eCollection 2015. Genome Med. 2015. PMID: 26195989 Free PMC article.

2

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288. Nat Genet. 1996. PMID: 8589720

3

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Hum Mol Genet. 1997 Sep;6(9):1595-603. doi: 10.1093/hmg/6.9.1595. Hum Mol Genet. 1997. PMID: 9285799

4

Evolution of ABCA4 proteins in vertebrates.

Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR. Yatsenko AN, et al. Among authors: lupski jr. J Mol Evol. 2005 Jan;60(1):72-80. doi: 10.1007/s00239-004-0118-4. J Mol Evol. 2005. PMID: 15696369

5

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. Saifi GM, et al. Among authors: lupski jr. Hum Mutat. 2005 Apr;25(4):372-83. doi: 10.1002/humu.20153. Hum Mutat. 2005. PMID: 15776429

6

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Mol Genet. 2005 Oct 1;14(19):2769-78. doi: 10.1093/hmg/ddi310. Epub 2005 Aug 15. Hum Mol Genet. 2005. PMID: 16103129

7

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: lupski jr. Am J Hum Genet. 2005 Nov;77(5):841-50. doi: 10.1086/497541. Epub 2005 Sep 30. Am J Hum Genet. 2005. PMID: 16252242 Free PMC article.

8

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Wiszniewski W, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006-0314-y. Epub 2007 Jan 31. Hum Genet. 2007. PMID: 17265047

9

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: lupski jr. Am J Hum Genet. 2007 Sep;81(3):438-53. doi: 10.1086/519926. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701891 Free PMC article.

10

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Szigeti K, et al. Among authors: lupski jr. Neurogenetics. 2007 Nov;8(4):257-62. doi: 10.1007/s10048-007-0094-0. Epub 2007 Aug 24. Neurogenetics. 2007. PMID: 17717711

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