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Actions of progesterone and its 5alpha-reduced metabolites on the major prote...

Martini(Luciano),Magnaghi(Valerio),Melcang... Steroids 2004-08-17

...PMP22). We have shown that: (a) dihydroprogesterone enhances the low mRNA levels of Po in the sciatic nerve of aged male...

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does ...

Marques(W),Sweeney(M G),Wood(N W) Braz J Med Biol Res 2004-01-22

The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families ...

Conformation of the transmembrane domains in peripheral myelin protein 22. Pa...

Yamada(K),Sato(J),Oku(H),Katakai(R) J Pept Res 2004-03-23

...PMP22) have been found in CMT type 1A dominants. To investigate the influence of the point mutation of PMP22 on the seco...

Characterization of the targeting signal of the Arabidopsis 22-kD integral pe...

Murphy(Mary A),Phillipson(Belinda A),Baker... Plant Physiol 2004-01-23

...PMP22), an integral component of the membrane of all peroxisomes in the mature plant. We show that nascent PMP22 is sort...

A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropa...

Lorentzos(P),Kaiser(T),Kennerson(M L),Nich... Genet Test 2004-04-15

...PMP22) gene. Many complicated and laborious diagnostic tests exist for the diagnosis of these diseases. The aim of our s...

Loss-of-function phenotype of hereditary neuropathy with liability to pressur...

Li(Jun),Krajewski(Karen),Lewis(Richard A),... Muscle Nerve 2004-03-02

...PMP22 in myelinated peripheral nerve, since the disease is caused by a deletion of one of the two PMP22 alleles. To syst...

Impairment of PMP22 transgenic Schwann cells differentiation in culture: impl...

Nobbio(Lucilla),Vigo(Tiziana),Abbruzzese(M... Neurobiol Dis 2004-08-18

...PMP22 transgenic (PMP22(tg)) Schwann cells in culture. In basal conditions, PMP22(tg) Schwann cells, although expressing...

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.

Marques(W),Neto(J M Pina),Barreira(A A) Acta Neurol Scand 2004-11-02

...PMP22 gene.,The Ser72Leu substitution is being confirmed as the most frequent point mutation in the PMP22 gene. This 'ho...

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe ...

Slater(Howard),Bruno(Damien),Ren(Hua),La(P... Hum Mutat 2004-10-25

...PMP22, and COX10 genes within the CMT1A/HNPP region. We have compared the results with our existing fluorescence in situ...

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Mari...

Choi(Byung-Ok),Lee(Mi Sun),Shin(Sang Hee),... Hum Mutat 2004-10-25

We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korea...

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