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A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritan...

Fabrizi(G M),Ferrarini(M),Cavallaro(T),Jar... Neurology 2001-08-02

...PMP22), myelin protein zero (MPZ/P(0)), and early growth response 2 transcription factor (EGR2/Krox-20).,Two young siste...

Genomic organization, chromosomal localization and tissue specific expression...

Lüers(G H),Otte(D M),Subramani(S),Franz(T) Gene 2001-09-27

...Pmp22, a 22 kDa protein of unknown function that is encoded by the Pxmp2 gene. To investigate the function of the Pxmp2 ...

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mu...

Mostacciuolo(M L),Righetti(E),Zortea(M),Bo... Hum Mutat 2001-12-12

...PMP22 (peripheral myelin protein 22), MPZ (myelin protein zero), Cx32 (connexin 32; also called GJB1), and EGR2 (early g...

Investigation of serum response to PMP22, connexin 32 and P(0) in inflammator...

Kwa(M S),van Schaik(I N),Brand(A),Baas(F),... J Neuroimmunol 2001-08-16

...PMP22) were produced in Chinese hamster ovary (CHO)-K1 cells. From a panel of 25 Guillain-Barré syndrome (GBS) and 24 ch...

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in t...

Young(P),Grote(K),Kuhlenbäumer(G),Debus(O)... J Neurol 2001-12-04

...PMP22). Point mutations in the myelin protein zero gene (MPZ) and gap junction protein, beta-1 gene (GJB1) are also foun...

Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensor...

Yener(G G),Guiochon-Mantel(A),Obuz(F),Bakl... J Neurol 2001-10-04

...PMP22 gene in a 19-year-old man with infantile onset of sensory motor polyneuropathy without family history and multiple...

Transcriptional startpoints and methylation patterns in the PMP22 promoters o...

Huehne(K),Rautenstrauss(B) Int J Mol Med 2001-07-19

...PMP22 is expressed in myelinating Schwann cells in the peripheral nerve, but also in a variety of other tissues. PMP22 e...

Loss of heterozygosity of gene THW is frequently found in melanoma metastases...

Hildebrandt(T),van Dijk(M C),van Muijen(G ... Anticancer Res 2001-07-26

...PMP22/gas3 family of plasma membrane proteins referred to as THW. This gene is located on chromosome 6q and preliminary ...

Mutations of peripheral myelin protein 22 result in defective trafficking thr...

Sanders(C R),Ismail-Beigi(F),McEnery(M W) Biochemistry 2001-10-18

...PMP22) to Charcot-Marie-Tooth disease (CMTD) type 1A. A number of disease-linked PMP22 mutants fail to undergo normal tr...

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central co...

Seeman(P),Mazanec(R),Ctvrtecková(M),Smilko... Int J Mol Med 2001-12-04

...PMP22) is observed (CMT1A), but point mutations in PMP22 have also rarely been reported. X-linked, dominant CMTX1 diseas...

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