文献库搜索 | GeneLibs

Wake(Y),Kanzaki(A),Shirabe(T) Rinsho Shinkeigaku 2001-03-01

...PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A.

Perea(J),Robertson(A),Tolmachova(T),Muddle... Hum Mol Genet 2001-07-12

...PMP22) due to a genomic duplication. We have generated a transgenic mouse model in which mouse pmp22 overexpression can ...

Kunz-Schughart(L A),Heyder(P),Schroeder(J)... Exp Cell Res 2001-06-14

...PMP22/SR13 has been identified as a novel candidate with potential relevance in the interaction between tumor cell and n...

Latour(P),Boutrand(L),Levy(N),Bernard(R),B... Clin Chem 2001-06-14

A 1.5-Mb microduplication containing the gene for peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12 is respo...

Chance(P F) Phys Med Rehabil Clin N Am 2001-09-20

...PMP22) gene. CMT1B is associated with point mutations in the myelin protein zero (P0 or MPZ) gene. The molecular defect ...

Norreel(J C),Jamon(M),Riviere(G),Passage(E... Eur J Neurosci 2001-07-12

...PMP22 gene leading to a phenotype significantly close to CMT's disease type 1A were compared with control animals. The a...

Sancho(S),Young(P),Suter(U) Brain 2001-12-07

...PMP22 mutant mice, regardless of whether increased or decreased PMP22 gene dosage or point mutations affecting the PMP22...

Yoshihara(T),Yamamoto(M),Doyu(M),Mis(K I),... Hum Mutat 2000-09-15

...PMP22 gene duplication. A new method, which could detect base pair mismatches with Rnase cleavage on agarose gel electro...

Kiwaki(T),Umehara(F),Takashima(H),Nakagawa... Neurology 2000-08-21

...PMP22 gene, Cx32 gene, orEGR2 gene. Analysis did not establish linkage of the disease to the locus of CMT4A, 4B, and 4C ...

Rautenstrauss(B),Zechner(U),Hameister(H),G... J Peripher Nerv Syst 2000-09-19

...PMP22 gene is found (gene dosage effect); but several PMP22 point mutations, such as that determining the TremblerJ mous...