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[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].

Xing(Jun-Wei),Liu(Ya-Hong),Shamsi(Bilal Ha... Zhongguo Dang Dai Er Ke Za Zhi 2011-12-09

...PMP22 duplication mutation.,The mutations of PMP22 were found in the two patients and other five unaffected members in t...

Claudin family proteins in Caenorhabditis elegans.

Simske(Jeffrey S),Hardin(Jeff) Methods Mol Biol 2011-11-04

...PMP22/EMP/claudin/calcium channel γ subunit family, including nsy-1-nsy-4 and vab-9, while highly divergent at a sequenc...

Interplay between LXR and Wnt/β-catenin signaling in the negative regulation ...

Makoukji(Joelle),Shackleford(Ghjuvan'Ghjac... J Neurosci 2011-09-13

...PMP22)] in a Schwann cell line. This downregulation is mediated by either LXRα or LXRβ, depending on the promoter contex...

A Family Harboring CMT1A Duplication and HNPP Deletion.

Lee(Jung Hwa),Kang(Hee Jin),Song(Hyunseok)... J Clin Neurol 2011-07-14

...PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated wit...

Rewiring integrin-mediated signaling and cellular response with the periphera...

Morales(Shawn A),Telander(David),Notterpek... Invest Ophthalmol Vis Sci 2011-09-16

...PMP22 cells was partially reversed through either PMP22 siRNA or by blockade of AKT.,Relative expression of EMP2 or PMP2...

Wnt/beta-catenin signaling is an essential and direct driver of myelin gene e...

Tawk(Marcel),Makoukji(Joelle),Belle(Martin... J Neurosci 2011-05-11

...PMP22) in mouse Schwann cells and proteolipid protein in mouse oligodendrocytes. Moreover, the activation of Wnt signali...

Peripheral myelin protein-22 (PMP22) modulates alpha 6 integrin expression in...

Rao(Rajiv G),Sudhakar(Deepthi),Hogue(Clair... Reprod Biol Endocrinol 2011-10-10

...PMP22 in both proliferative and secretory endometrium. Differences in PMP22 expression between proliferative and secreto...

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAU...

Pareyson(Davide),Reilly(Mary M),Schenone(A... Lancet Neurol 2011-06-15

...PMP22), a model of Charcot-Marie-Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three ...

Spontaneously immortalized Schwann cells from adult Fischer rat as a valuable...

Sango(Kazunori),Yanagisawa(Hiroko),Kawakam... J Neurosci Res 2011-08-23

...PMP22, and myelin-associated glycoprotein (MAG)], transcription factors (Krox20, Sox10, and Oct6), neuregulin-1 receptor...

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.

Deymeer(Feza),Matur(Zeliha),Poyraz(Muruvve... Muscle Nerve 2011-06-07

...PMP22) duplications, in contrast to higher MCVs in connexin 32 gene (Cx32) mutations and lower MCVs in the demyelinating...

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