Global ETD Search
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Showing 1 to 4 of 4 for “"KIAA1985"”.
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Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien
… of the so far unknown function of the KIAA1985 (SH3TC2) gene product responsible for the Charcot-Marie-Tooth subtype 4C. 2) Verification, based on published data, of the hypothesis that mutations in genes coding for Rho-GTPases (or their regulators) cause peripheral neuropathies.The …
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Identifizierung und Charakterisierung des Gens für die autosomal rezessiv erbliche Charcot-Marie-Tooth-Neuropathie Typ 4C (CMT4C)
… mutations were detected in 12 families in the KIAA1985 gene, a so far uncharacterised transcript. KIAA1985 encodes a new protein of unknown function and belongs to a novel protein family conserved during vertebrate evolution. KIAA1985 is expressed in the peripheral nervous system and seems to …
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Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden
… for mutations in the genes SBF2, MTMR2 and KIAA1985 in AR-HMSN families with focally folded myelin in the nerve biopsies. Disease-causing mutations were detected in seven out of 17 cases: four families showed mutations in the SBF2 gene, one family in the MTMR2 gene and two families in the …
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
… a severe scoliosis points to the CMT4C-locus (KIAA1985-gene) and histopathological hallmarks of focal outfoldings of myelin in nerve biopsies indicate to the CMT4B1/2-locus (MTMR2- and SBF2-gene). Finally this study demonstrates an increased detection rate of early childhood onset HSMN by the …