検索結果:　 524件中 1-20 を表示

1

Interactions between canine RAD51 and full length or truncated BRCA2 BRC repeats

Ochiai K. , Yoshikawa Y. , Oonuma T. , Tomioka Y. , Hashizume K. , Morimatsu M.

… In serial deletion mutation experiments, the binding strengths were increased when the C-terminal BRC repeat was removed from BRC1-8, BRC1-5 and BRC1-3. … These results provide an understanding of the basic function of canine BRCA2 and may be helpful to estimate the effect of missense or truncation mutations in canine mammary tumours. …

The Veterinary Journal 190(2), 293-295, 2011-11

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2

サポートベクターマシンを用いた血友病Bデータベースの解析-アミノ酸置換の第IX因子活性への影響-

青木謙二 , 末吉健二 , 石橋太郎 , 坂本眞人 , 古谷博史

血友病 B は血液凝固因子の一つである第 IX 因子の異常によって引き起こされる遺伝性疾患である.血友病 B については,患者の遺伝子異常がデータベース化され,血友病 B を分子レベルで組織的に研究することが可能である.本論文は,第 IX 因子のアミノ酸ミスセンス変異において,アミノ酸置換に伴う物理化学的パラメータ (分子体積,疎水性,極性,等電点,残基間接触エネルギー) の変化量を用いてサポート …

情報処理学会研究報告. MPS, 数理モデル化と問題解決研究報告 2011-MPS-85(7), 1-8, 2011-09-08

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3

Ubiquitin Ligase Activity of Cul3-KLHL7 Protein Is Attenuated by Autosomal Dominant Retinitis Pigmentosa Causative Mutation

Kigoshi Yu , Tsuruta Fuminori , Chiba Tomoki , 木越悠 , 千葉智樹

… Recently, it was reported that missense mutations in KLHL7, a BTB-Kelch protein, are related to autosomal dominant retinitis pigmentosa (adRP). … An adRP-causative missense mutation in the BACK domain of KLHL7 attenuated only the Cul3 interaction but not dimerization. …

The journal of biological chemistry 286(38), 33613-33621, 2011-09

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4

Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy

Yao Dengbing , Yao Min , Yamaguchi Miyoko , Chida Junji , Kido Hiroshi

… The CPT II Q216R mutation showedmild reduction of activity, thermal instability and short half-life but compound mutationswith Q216R+V368I+M647V showed further enhancement of these disabilities, althoughmutations V368I and M647V had no such effects. … CPT II mutation [c.745delG (p.G249EfsX16)] abolished enzyme activity and showed short half-life. …

The journal of medical investigation : JMI 58(3-4), 210-218, 2011-08

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5

Long-term effect of external beam radiotherapy of optic disc hemangioma in a patient with von hippel-lindau disease

Matsuo Toshihiko , Himei Kengo , Ishii Keita , Ichimura Kouichi , Yanai Hiroyuki , Nose Soichiro , Mimura Tetsushige

… An 18-year-old woman with a 2-year history of hypertension and headache was diagnosed with noradrenalin-secreting bilateral adrenal pheochromocytomas with paragangliomas in the background of von Hippel-Lindau disease with family histories and a missense mutation, 712C to T (Arg167Trp) in the VHL gene. …

Acta Medica Okayama 65(2), 135-141, 2011-04

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6

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

Jelani Musharraf , Chishti Muhammad Salman , Ahmad Wasim

Journal of human genetics 56(5), 352-357, 2011-05
7

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

Saigoh Kazumasa , Izumikawa Tomomi , Koike Toshiyasu [他]

Journal of human genetics 56(2), 143-146, 2011-02

医中誌
8

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Sun Yi , Chen Jing , Sun Hanjun [他]

Journal of human genetics 56(1), 64-70, 2011-01

医中誌
9

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

Izumi Rumiko , Suzuki Naoki , Nagata Mari , Hasegawa Takafumi , Abe Yu , Saito Yuka , Mochizuki Hiroshi , Tateyama Maki , Aoki Masashi

… A compound heterozygous mutation was identified in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene, including a novel missense mutation, which confirmed the diagnosis of MADD. …

Internal Medicine 50(21), 2663-2668, 2011

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10

Molecular Mechanisms of α-Crystallinopathy and Its Therapeutic Strategy

Sanbe Atsushi

… The missense mutation and the deletion mutation of CryAB can cause various forms of muscular disorder, including restrictive, hypertrophic, and dilated cardiomyopathies, heart failure, and skeletal muscle weakness. … Crystallinopathy can be recapitulated in TG mice by expressing the mutant CryAB Arg120Gly (R120G) protein, a causal mutation of crystallinopathy, specifically in the cardiomyocytes. …

Biological & Pharmaceutical Bulletin 34(11), 1653-1658, 2011

J-STAGE CrossRef
11

Clinical and Genetic Investigation of a Japanese Family With Cardiac Fabry Disease : Identification of a Novel α-Galactosidase A Missense Mutation (G195V)

Nakagawa Naoki , Maruyama Hiroki , Ishihara Takayuki , Seino Utako , Kawabe Jun-ichi , Takahashi Fumihiko , Kobayashi Motoi , Yamauchi Atsushi , Sasaki Yukie , Sakamoto Naka , Ota Hisanobu , Tanabe Yasuko , Takeuchi Toshiharu , Takenaka Toshihiro , Kikuchi Kenjiro , Hasebe Naoyuki

… We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. … Of the 10 family members, 5 family members each were positive and negative for this mutation. …

International Heart Journal 52(5), 308-311, 2011

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12

老化促進モデルマウスSAMP8における呼吸酵素複合体1活性低下はミトコンドリアDNAではなく核が原因である

IMANISHI Hirotake , YOKOTA Mutsumi , MORI Masayuki , SHIMIZU Akinori , NAKADA Kazuto , HAYASHI Jun-Ichi

… This study determined pathogenicity of an A11181G mtDNA mutation found in a senescence-accelerated mouse strain, SAMP8. … The mutation was at a highly conserved site of the mt-Nd4 gene, which encodes one of the respiratory complex I subunits. … To exclude the nuclear effects, we isolated transmitochondrial cybrids that share the same nuclear background, but possess mtDNA with or without the mutation. …

Experimental Animals 60(4), 397-404, 2011

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13

False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria

Masuda Tomoko , Ota Rie , Ando Takao , Maeda Naoto , Horie Yutaka , Yoshimura Toshiro , Motomura Masakatsu , Kawakami Atsushi

… A diagnosis of acute intermittent porphyria was finally confirmed based on the characteristic pictures, increased urinary excretion of porphobilinogen, and identification of a heterozygous missense mutation of R173W in the hydroxymethylbilane synthase gene. …

Internal Medicine 50(9), 1029-1032, 2011

機関リポジトリ J-STAGE CrossRef
14

Mutations in the Melanocortin 1 Receptor, β-Defensin103 and Agouti Signaling Protein Genes, and Their Association with Coat Color Phenotypes in Akita-Inu Dogs

OGURO-OKANO Mieko , HONDA Mioko , YAMAZAKI Kaoru , OKANO Keiju

… In the case of the MC1R gene, all white dogs were homozygous for a nonsense mutation, R306ter, while brindle, sesame, and red dogs had at least one R306 allele. … In the case of the CBD103 gene, all brindle dogs were heterozygous for the G23del mutation (deletion of codon 23, encoding glycine), while all sesame and red dogs were homozygous for G23. …

Journal of Veterinary Medical Science advpub(0), 1102030453, 2011

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15

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

Nakajima Tadashi , Kaneko Yoshiaki , Saito Akihiro , Irie Tadanobu , Tange Shoichi , Iso Tatsuya , Kurabayashi Masahiko

… An A735E mutation (located at segment (S)1 in domain (D)2) was identified in the CPA group. … A novel splice acceptor site mutation (c.393-1c>t), which may produce a prematurely truncated protein, was identified in the Sy group. … An E1784K mutation (C-terminus) and a novel mutation V1951M (C-terminus) were also identified in the Sy group. …

International Heart Journal 52(1), 27-31, 2011

J-STAGE CrossRef
16

Role of FGD1, a Cdc42 Guanine Nucleotide Exchange Factor, in Epidermal Growth Factor-Stimulated c-Jun NH2-Terminal Kinase Activation and Cell Migration

Oshima Toshiyuki , Fujino Tomofumi , Ando Ken , Hayakawa Makio

… While most mutations were found in the catalytic region, which consists of Dbl homology (DH) domain and adjacent pleckstrin homology (PH) domain, a missense mutation in the proline-rich domain is also found in a patient with typical clinical features as AAS. …

Biological & Pharmaceutical Bulletin 34(1), 54-60, 2011

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17

Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan

Tsutaya Shoji , Sugimoto Kazuhiro , Nakaji Shigeyuki , Yasujima Minoru

… We detected T180K, L849H and R919C missense mutations in 40, 49 and 57 subjects,respectively. … Inaddition, subjects with L849H mutation had significantly lower systolic blood pressure when compared to subjectswith wild-type SLC12A3（ 121.8 ± 18.4 versus 127.8 ± 18.9 mmHg; … The resultsalso suggest that loss-of-function in the SLC12A3 via the L849H mutation reduces blood pressure, thereby contributingto resistance to hypertension. …

弘前醫學 62(2/3/4), 122-128, 2011

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18

PTCH1遺伝子のミスセンス変異が認められた母斑基底細胞癌症候群の1例

吉武義泰 , 中山秀樹 , 福間大喜 , 尾木秀直 , 平木昭光 , 篠原正徳

日本口腔外科学会雑誌 56(12), 730-734, 2010-12-20

医中誌参考文献17件
19

RYK遺伝子変異は非症候性の口唇裂・口蓋裂発症における遺伝要因の一つである

渡邊章 , 秋田定伯 , 夏目長門 , 中野洋子 , 内山健志 , 吉浦孝一郎

日本口蓋裂学会雑誌 35(1), 9-17, 2010-04-25

医中誌参考文献26件
20

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family

Umm-e-Kalsoom , WASIF Naveed , TARIQ Muhammad , AHMAD Wasim

Pediatrics international : official journal of the Japan Pediatric Society 52(2), 240-246, 2010-04-01

医中誌参考文献19件

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