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Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertra...

Finsterer(Josef) Pediatr Cardiol 2009-08-18

...PMP22, TNNT2, fibrillin2, SHP2, MMACHC, LMX1B, HCCS, or NR0B1 genes. Additionally, LVHT occurs with a number of chromoso...

Functional and comparative genomics analyses of pmp22 in medaka fish.

Itou(Junji),Suyama(Mikita),Imamura(Yukio),... BMC Neurosci 2009-08-17

Pmp22, a member of the junction protein family Claudin/EMP/PMP22, plays an important role in myelin formation. Increase ...

P2X7-mediated increased intracellular calcium causes functional derangement i...

Nobbio(Lucilla),Sturla(Laura),Fiorese(Fulv... J Biol Chem 2009-10-06

...PMP22 (peripheral myelin protein-22) gene; overexpression of PMP22 in Schwann cells (SC) is believed to cause demyelinat...

Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Uk...

Hryshchenko(N V),Livshits(L A) Tsitol Genet 2009-12-18

...PMP22 gene dosage measuring by means of quantitative Real- Time PCR. It has been carried out detection and analysis of 1...

Varying survival of motoneurons and activation of distinct molecular mechanis...

Nattkämper(Heiner),Halfter(Hartmut),Khazae... J Neurochem 2009-08-07

...Pmp22 (Pmp22(tg)) while mice lacking Pmp22 [Pmp22(ko); knockout (ko)] exhibited normal MN numbers at the symptomatic age...

Entrapment in anti myelin-associated glycoprotein neuropathy.

Faber(Catharina G),Notermans(Nicolette C),... J Neurol 2009-08-20

...PMP22 function yields hereditary neuropathy with liability to pressure palsies (HNPP), loss of PMP22 function due to ant...

The Ccr4-NOT deadenylase subunits CNOT7 and CNOT8 have overlapping roles and ...

Aslam(Akhmed),Mittal(Saloni),Koch(Frederic... Mol Biol Cell 2009-12-29

...PMP22, by the Ccr4-Not complex contributes to cell proliferation.

[Hereditary peripheral neuropathies].

Vallat(Jean-Michel),Tazir(Mériem),Calvo(Ju... Presse Med 2009-09-29

...PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North ...

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: m...

Leal(Alejandro),Huehne(Kathrin),Bauer(Finn... Neurogenetics 2009-12-07

...Pmp22 gene dosage and expression in transgenic mice and rats. These results suggest a potential role of this protein in ...

[Charcot-Marie-Tooth disease].

Birouk(Nazha) Presse Med 2009-03-11

...PMP22 gene, and CMTX, due to mutations in the connexin 32 gene. Autosomal recessive forms are more frequent in North Afr...

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