Biomedical Engineering Reference
In-Depth Information
313. Plomp AS, Hu X, de Jong PT, Bergen AA. 2004. Does autosomal dominant pseudoxan-
thoma elasticum exist? Am J Med Genet A 126:403-412.
314. Struk B, Cai L, Zach S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim
CA, et al. 2000. Mutations of the gene encoding the transmembrane transporter protein
ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 78:282-286.
315. Cai L, Lumsden A, Guenther UP, Neldner SA, Zach S, Knoblauch H, Ramesar R, Hohl D,
Callen DF, Neldner KH, et al. 2001. A novel Q378X mutation exists in the transmembrane
transporter protein ABCC6 and its pseudogene: implications for mutation analysis in
pseudoxanthoma elasticum. J Mol Med 79:536-546.
316. Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo
S, Federico A, Bardelli AM, et al. 2001. Pseudoxanthoma elasticum: point mutations in
the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Hum Mutat
18:85.
317. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH, Johnson EW, de
Paepe A, Pope FM, Pasquali-Ronchetti I, et al. 2001. A spectrum of ABCC6 mutations
is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69:749-764.
318. Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. 2001. Identification of ABCC6 pseudogenes
on human chromosome 16p: implications for mutation detection in pseudoxanthoma
elasticum. Hum Genet 109:356-365.
319. Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. 2001. Compound heterozygosity for a
recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in
the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 68:642-652.
320. Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek
R, de Jong PT, Bergen AA. 2003. ABCC6/MRP6 mutations: further insight into the
molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet 11:215-224.
321. Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL, Calvas P, Hovnanian
A. 2004. Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol
122:608-613.
322. Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Ronchetti IP. 2004.
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum
Mutat 24:438-439.
323. Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Rame-
sar RK, Lebwohl M, Hohl D, Neldner KH, et al. 2005. Molecular genetics of pseudoxan-
thoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat 26:235-248.
324. Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT, van Kuppevelt
TH, Levelt CN, de Wolf A, Loves WJ, et al. 2005. Disruption of Abcc6 in the mouse: novel
insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14:1763-1773.
325. Perdu J, Germain DP. 2001. Identification of novel polymorphisms in the pM5 and MRP1
(ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseu-
doxanthoma elasticum. Hum Mutat 17:74-75.
326. Conrad S, Kauffmann HM, Ito K, Leslie EM, Deeley RG, Schrenk D, Cole SP. 2002.
A naturally occurring mutation in MRP1 results in a selective decrease in organic anion
transport and in increased doxorubicin resistance. Pharmacogenetics 12:321-330.
327. Wang Z, Sew PH, Ambrose H, Ryan S, Chong SS, Lee EJ, Lee CG. 2006. Nucleotide
sequence analyses of the MRP1 gene in four populations suggest negative selection on
its coding region. BMC Genom 7:111.
 
Search WWH ::




Custom Search