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Al-Dosary(Mazhor),Whittaker(Roger G),Haugh... Neuromuscul Disord 2010-03-08

...PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT...

Moszyńska(Izabela),Kabzińska(Dagmara),Sink... Acta Biochim Pol 2010-02-26

...PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a pati...

Weterman(Marian A J),van Ruissen(Fred),de ... Eur J Hum Genet 2010-06-29

...PMP22 coding regions was also excluded. We suggest that this CNV proximal of the PMP22 gene leads to CMT through an unkn...

Kohl(Bianca),Fischer(Stefan),Groh(Janos),W... Am J Pathol 2010-06-07

...PMP22). In an accordant mouse model, we investigated the role of monocyte chemoattractant protein-1 (MCP-1/CCL2) as a re...

Ito(Takaaki),Ikeda(Kazuo),Tomita(Katsuro),... Neurosci Lett 2010-04-21

...PMP22), but not those of myelin protein zero and myelin basic protein. The increase in PMP22 mRNA was markedly suppresse...

Stangler Herodez(Spela),Zagradisnik(B),Erj... J Int Med Res 2010-03-03

...PMP22) gene. The study sample included 70 probands that had each been previously analysed by fluorescence in situ hibrid...

Bai(Yunhong),Zhang(Xuebao),Katona(Istvan),... J Neurosci 2010-02-01

...pmp22 alleles (pmp22(+/-)). Induction time for the CB was significantly shorter in pmp22(+/-) mice than that in pmp22(+/...

Gouvea(Silmara P),S Borghetti(Vinícius H),... Neurogenetics 2010-03-22

...PMP22 gene, the 17p11.2-p12 duplication and a Ser72Leu point mutation. We propose that the deleterious effects of each m...

Braathen(Geir J),Sand(Jette C),Lobato(Ana)... BMC Med Genet 2010-04-30

...PMP22) gene, and point mutations in the Connexin32 (Cx32) and myelin protein zero (MPZ) genes.,The identified known and ...

Simpson(Natalie E),Lambert(W Marcus),Watki... Cancer Res 2010-12-21

...PMP22, ABCC3, AGR2, Sox3, TM4SF1, and p8 (NUPR1). Upregulation of the ATP-dependent transporter ABCC3 by p23 conferred r...