Výsledky vyhledávání - "Tomoyuki Uemichi"

A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis

Autor: Juris J. Liepnieks, Nils Bang, Morie A. Gertz, Merrill D. Benson, Tomoyuki Uemichi, Toshiyuki Yamada

Publikováno v: Blood. 87:4197-4203

A new American kindred with amyloidosis was found by single-strand conformation polymorphism analysis to have a mutation in the fibrinogen A alpha chain gene. Affected members in this kindred have autosomal dominant amyloid nephropathy. DNA sequencin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::844760ca23145f412b3009218cc7ac86
https://doi.org/10.1182/blood.v87.10.4197.bloodjournal87104197

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Neoplastic epithelial cells express α-subunit of muscle nicotinic acetylcholine receptor in thymomas from patients with myasthenia gravis

Autor: Tomoyuki Uemichi, Yoshitaka Fujii, Shiro Yorifuji, Seiichiro Tarui, Yasuo Hara, Satoshi Ueno, Nobuyuki Takahashi

Publikováno v: FEBS Letters. 279:137-140

We studied the expression of mRNAs coding for the alpha-subunit of the muscle nicotinic acetylcholine receptor (AChR) in thymomas from patients with myasthenia gravis (MG). Northern blot analysis failed to detect the expression, but amplification of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3898fcd688c7921878b89bcde6698a4
https://doi.org/10.1016/0014-5793(91)80268-8

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Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka

Autor: Shiro Yorifuji, Tomoyuki Uemichi, Nobuyuki Takahashi, Satoshi Ueno, Harutoshi Fujimura, Seiichiro Tarui

Publikováno v: Journal of the neurological sciences. 112(1-2)

A Japanese patient with systemic amyloidosis associated with a transthyretin (TTR) variant Arg50 is presented. This 41-year-old man became impotent and developed decreased pain sensation in his hands, and then sensory loss and muscle wasting in his l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a53c5182e3d8b369cb4333bd3123eb2
https://pubmed.ncbi.nlm.nih.gov/1335038

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Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family

Autor: Tadashi Umekage, Harutoshi Fujimura, Satoshi Ueno, Shiro Yorifuji, Tomoyuki Uemichi, Yuji Matsuzawa, Seiichiro Tarui

Publikováno v: Musclenerve. 15(8)

A Japanese family is described in which 6 persons showed familial amyloid polyneuropathy (FAP). Mean ages of onset were 38 for 4 males and 54 for 2 females. Three of the 6 became emaciated and died after 4 to 10 years. In 5, muscular weakness and aut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2751c251d735eaf90ffbf54b3d79ec4e
https://pubmed.ncbi.nlm.nih.gov/1353861

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Myelopathy associated with Hashimoto's disease

Autor: Shizuru Doi, Tsuyoshi Matsubara, Tomoyuki Uemichi, Tsutomu Azuma, Masahiro Funauchi

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 68:681-682

Encephalopathy associated with Hashimoto's disease was first reported by Brain et al in 1966.1 Hashimoto's encephalopathy is a steroid responsive relapsing disorder associated with Hashimoto's disease that often presents with stroke-like episodes, my

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https://doi.org/10.1136/jnnp.68.5.681

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Three Novel Variants of Transthyretin Identified in Three Japanese Kindreds with Familial Amyloidotic Polyneuropathy

Autor: Tomoyuki Uemichi, Nobuyuki Takahashi, Fumihisa Soga, Seiichiro Tarui, Shiro Yorifuji, S. Ueno

Publikováno v: Amyloid and Amyloidosis 1990 ISBN: 9789401054508

We identified three novel variants of transthyretin (TTR), TTR-Cys 114, TTR-Gly 42, and TTR-Arg 50, in three Japanese kindreds with familial amyloidotic polyneuropathy. Amyloid deposits reacted with anti-TTR serum. Amino acid mutations were deduced f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bba4fd8bbac413c5892d23bf35c1c1c
https://doi.org/10.1007/978-94-011-3284-8_153

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Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

Autor: Nobuyuki Takahashi, Seiichiro Tarui, Fumihisa Soga, Tomoyuki Uemichi, Satoshi Ueno, Shiro Yorifuji

Publikováno v: Biochemical and biophysical research communications. 169(3)

Two mutant genes coding for two different variants of transthyretin were identified in two independent kindreds with familial amyloidotic polyneuropathy. A single base change from A to G was identified in exon 2 of transthyretin gene in two brothers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cb3adf8bd67a368a35c4120d5c820b
https://pubmed.ncbi.nlm.nih.gov/2363717

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A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases

Autor: S. Ueno, Shiro Yorifuji, Tomoyuki Uemichi, Seiichiro Tarui

Publikováno v: Biochemical and biophysical research communications. 169(1)

A to G transversion was identified in exon 4 of transthyretin gene in familial amyloidotic polyneuropathy in two sibling cases living in Osaka. This transversion led to the replacement of tyrosine by cysteine residue at codon 114 of 127 residue molec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc5962aa996a90b73d635c66ed4295a9
https://pubmed.ncbi.nlm.nih.gov/2161654

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