Sample records for recessive mutations
from WorldWideScience.org

Sample records 1 - 20 shown. Select sample records:



3
5

長期に観察し得たDent病の2症例

池岡 恵; 池田 優; 八木 和郎; 桑島 宏彰; 柳田 英彦; 岡田 満; 竹村 司

Journal@rchive (Japan) (Japanese)

6

長期に観察し得たDent病の2症例

池岡 恵; 池田 優; 八木 和郎; 桑島 宏彰; 柳田 英彦; 岡田 満; 竹村 司
2003-01-01

J-STAGE (Japan) (Japanese)

7

重度精神遅滞と難治てんかんを呈したMECP2重複症候群の2男児例

齋藤 貴志; 本田 尚三; 中川 栄二; 花井 彩江; 小牧 宏文; 須貝 研司; 佐々木 征行; 赤坂 紀幸; 遠山 潤; 稲澤 譲治; 後藤 雄一

Journal@rchive (Japan) (Japanese)

8

重度精神遅滞と難治てんかんを呈したMECP2重複症候群の2男児例

齋藤 貴志; 本田 尚三; 中川 栄二; 花井 彩江; 小牧 宏文; 須貝 研司; 佐々木 征行; 赤坂 紀幸; 遠山 潤; 稲澤 譲治; 後藤 雄一
2010-01-01

J-STAGE (Japan) (Japanese)

9

追跡腎生検を施行した日本型Dent病の1例

花田 卓也; 林 篤; 河場 康郎; 岡田 晋一; 齊藤 源顕; 宇都宮 靖; 神崎 晋

Journal@rchive (Japan) (Japanese)

10

追跡腎生検を施行した日本型Dent病の1例

花田 卓也; 林 篤; 河場 康郎; 岡田 晋一; 齊藤 源顕; 宇都宮 靖; 神崎 晋
2007-01-01

J-STAGE (Japan) (Japanese)

12

色素性乾皮症G群蛋白質は基本転写因子TFIIH複合体の安定化する

倉岡 功; 伊藤 伸介; 竹立 新人; 石上 智愛; 田中 亀代次
2007-01-01

J-STAGE (Japan) (Japanese)

20

第7回 日本輸血学会秋季シンポジウム記録

日本輸血学会雑誌;  Vol. 47 (2001) No. 1  pp.61-106

Journal@rchive (Japan) (Japanese)

27

招聘講演等抄録

日本小児腎臓病学会雑誌,     Vol. 22 (2009)     No. 1_supplement      pp.s36-s83
2009-01-01

J-STAGE (Japan) (Japanese)

30

急性膵炎の発症と重症化の分子機構

広田 昌彦; 大村谷 昌樹; 馬場 秀夫
2006-01-01

J-STAGE (Japan) (Japanese)

31

常染色体性Alport症候群

岡 政史; 野津 寛大; 飯島 一誠; 松尾 雅文

Journal@rchive (Japan) (Japanese)

32

常染色体性Alport症候群

岡 政史; 野津 寛大; 飯島 一誠; 松尾 雅文
2010-01-01

J-STAGE (Japan) (Japanese)

39

家族性特発性低分子蛋白尿症患者におけるCLCN5遺伝子の解析 (第2報)

仲里 仁史; 服部 新三郎; 吉牟田 純一郎; 古瀬 昭夫; 辛嶋 眞如; 河野 智康; 牛嶋 正; 平松 美佐子; 松本 真一; 遠藤 文夫; 松田 一郎

Journal@rchive (Japan) (Japanese)

40

家族性特発性低分子蛋白尿症患者におけるCLCN5遺伝子の解析 (第2報)

仲里 仁史; 服部 新三郎; 吉牟田 純一郎; 古瀬 昭夫; 辛嶋 眞如; 河野 智康; 牛嶋 正; 平松 美佐子; 松本 真一; 遠藤 文夫; 松田 一郎
1998-01-01

J-STAGE (Japan) (Japanese)

42

大会講演要旨

日本農芸化学会誌;  Vol. 71 (1997) No. sup  pp.419-424

Journal@rchive (Japan) (Japanese)

44

多発嚢胞腎と心筋肥厚を伴い, 妹でグルタル酸尿症II型と判明した新生児姉妹例

高田 彰; 石川 健; 松本 敦; 斉藤 雅彦; 相馬 洋紀; 千田 勝一; 四本 由郁; 遠藤 充; 長谷川 有紀; 山口 清次

Journal@rchive (Japan) (Japanese)

45

多発嚢胞腎と心筋肥厚を伴い, 妹でグルタル酸尿症II型と判明した新生児姉妹例

高田 彰; 石川 健; 松本 敦; 斉藤 雅彦; 相馬 洋紀; 千田 勝一; 四本 由郁; 遠藤 充; 長谷川 有紀; 山口 清次
2007-01-01

J-STAGE (Japan) (Japanese)

47

口腔扁平上皮癌におけるヒトパピローマウィルスの感染について

小嶋 亜紀子; 倉橋 伸枝; 阪上 剛; 杉田 好彦; 田中 壮典; 劉 学; 前田 初彦; 亀山 洋一郎

Journal@rchive (Japan) (Japanese)

50

全文PDF

日本小児腎臓病学会雑誌;  Vol. 22 (2009) No. 1_supplement  pp.s36-s83

Journal@rchive (Japan) (Japanese)

51

偽性低アルドステロン症I型

神田 杏子; 野津 寛大; 橋村 裕也; 飯島 一誠; 松尾 雅文

Journal@rchive (Japan) (Japanese)

52

偽性低アルドステロン症I型

神田 杏子; 野津 寛大; 橋村 裕也; 飯島 一誠; 松尾 雅文
2009-01-01

J-STAGE (Japan) (Japanese)

53

ワークショップ

平山 恵造; Patrick Davous; 福武 敏夫; 蒲澤 秀洋; 松原 充隆; 日比野 敬明; 深川 和利; 打田 昌夫; 吉田 洋二; 渡辺 正樹; 正和 信英; 山根 徹; 宮尾 眞一; 木村 正剛; 長谷川 真一; 寺本 純; 山之内 博; 石井 賢二

Journal@rchive (Japan) (Japanese)

59

パーキンソン病治療薬

野元 正弘; 岩田 真一; 加世田 俊

Journal@rchive (Japan) (Japanese)

60

パーキンソン病治療薬

野元 正弘; 岩田 真一; 加世田 俊
2001-01-01

J-STAGE (Japan) (Japanese)

61

パーキンソン病の遺伝子異常

波田野 靖子; 李 暁冰; 服部 信孝; 水野 美邦

Journal@rchive (Japan) (Japanese)

69

ウェルナー症候群細胞におけるテロメア脆弱性

有吉 健太郎; 児玉 靖司; 白石 一乗; 鈴木 啓司; 後藤 眞; 渡邉 正己
2006-01-01

J-STAGE (Japan) (Japanese)

71

てんかんを合併した原発性小頭症の3例

山本 仁; 今井 克美; 神山 紀子; 村上 浩史; 宮本 雄策; 福田 美穂

Journal@rchive (Japan) (Japanese)

72

てんかんを合併した原発性小頭症の3例

山本 仁; 今井 克美; 神山 紀子; 村上 浩史; 宮本 雄策; 福田 美穂
2004-01-01

J-STAGE (Japan) (Japanese)

73

aneuploidyががんの原因であるというモデルについての説明

山本 和生; 今井 勝; 布柴 達男; 小村 潤一郎; 小野 哲也
2006-01-01

J-STAGE (Japan) (Japanese)

74

X連鎖型アルポート症候群におけるIV型コラーゲンα3鎖, α4鎖 mRNAの発現

中西 浩一; 吉川 徳茂; 井上 祐司; 下村 真由美; 飯島 一誠; 中村 肇

Journal@rchive (Japan) (Japanese)

75

X連鎖型アルポート症候群におけるIV型コラーゲンα3鎖, α4鎖 mRNAの発現

中西 浩一; 吉川 徳茂; 井上 祐司; 下村 真由美; 飯島 一誠; 中村 肇
1995-01-01

J-STAGE (Japan) (Japanese)

77

Verrucous Skin Lesions on the Feet in Diabetic Neuropathy

ASAI MAKI; ISHIKAWA TAKEKO; MORI HIROYUKI; SUZUKI TAKU; ONISHI TAKAMITSU; WATANABE SHIN'ICHI
2005-01-01

J-EAST (Japan) (Japanese)

78

Update on hereditary neuropathy

NAKAGAWA MASANORI; TAKASHIMA HIROSHI
2004-01-01

J-EAST (Japan) (Japanese)

80

Two Cases of Sporadic Juvenile Parkinson's Disease Caused by Homozygous Deletion of Parkin Gene.

UJIKE HIROSHI; YAMAMOTO MITSUTOSHI; YAMAGUCHI KOJI; KANZAKI AKIHIRO; TAKAGI MANABU; KURODA SHIGETOSHI
1999-01-01

J-EAST (Japan) (Japanese)

81

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

Norden, AGW; Scheinman, SJ; Deschodt-Lanckman, MM; Lapsley, M; Nortier, JL; Thakker, RV; Unwin, RJ; Wrong, O

Background. The term "tubular proteinuria" is often used interchangeably with "low molecular weight proteinuria" (LMWP), although the former implies a definite etiology. A specific quantitative definition of tubular proteinuria is needed, and we address this by studying five different renal disorder...

DRIVER (Japanese)

82

The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene.

ONISHI YASUSHI; HIGUCHI JUN; OGAWA TATSUJI; NAMEKAWA AKIO; HAYASHI HIDEMORI; ODAKURA HIRONORI; GOTO KANAKO; HAYASHI YUKIKO
2002-01-01

J-EAST (Japan) (Japanese)

85
87

Study About Design Method of Safety Equipment of Maglev (Vertical Direction)

SHIRAKUNI NORIYUKI; TANIMURA MASAHARU; MIYAZAKI FUMIO
2006-01-01

J-EAST (Japan) (Japanese)

89

Skin Pigmentary Variants in Rana Nigromaculata

Journal of Clinical Biochemistry; Nutrition;  Vol. 38 (2006) No. 3  pp.195-203

Journal@rchive (Japan) (Japanese)

90

Skin Pigmentary Variants in Rana Nigromaculata

Ichiro Tazawa; Hitoshi Okumoto and Akihiko Kashiwagi
2006-01-01

J-STAGE (Japan) (Japanese)

92
93

STRUCTURAL IDENTIFICATION ANALYSIS OF BRACED FRAMES BASED ON EXPERIMENTAL DATA

SHIOTA SUMIKO; ENDO RYUJI; TOSAKA NOBUYOSHI; MUTO TOSHIHIRO
2006-01-01

J-EAST (Japan) (Japanese)

94
96

Radiation Component in Wavelength emitted from High Temperature Argon Gas

HONDA SATOSHI; INOUE YUKIE; IWAO TOORU; YUMOTO MOTOSHIGE; INABA TSUGINORI
2005-01-01

J-EAST (Japan) (Japanese)

97

RT-PCR・ダイレクトシークエンス法を用いたX連鎖型アルポート症候群の遺伝子診断

井上 祐司; 野口 茎子; 中西 浩一; 飯島 一誠; 中村 肇; 西尾 久英; 白川 卓; 西山 馨; 吉川 徳茂

Journal@rchive (Japan) (Japanese)

98

RT-PCR・ダイレクトシークエンス法を用いたX連鎖型アルポート症候群の遺伝子診断

井上 祐司; 野口 茎子; 中西 浩一; 飯島 一誠; 中村 肇; 西尾 久英; 白川 卓; 西山 馨; 吉川 徳茂
1998-01-01

J-STAGE (Japan) (Japanese)

99
100

RBE-LET Relationships of Accelerated Heavy Ions in Drosophila Somatic Mutations.

YOSHIKAWA ISAO; TAKATSUJI TOSHIHIRO; NAGANO MASAAKI; HOSHI SEIJI; TAKADA JUN; ENDO SATORU
1999-01-01

J-EAST (Japan) (Japanese)

103

Precautions and countermeasures for postoperative pulmonary complication.

YAMAMOTO SATOSHI; KAWAHARA KATSUNOBU; SHIRAKUSA TAKAHO
2002-01-01

J-EAST (Japan) (Japanese)

105

Positional Cloning of the Gene (WFS1) for Wolfram Syndrome.

TANIZAWA YUKIO; INOUE HIROSHI; OKA YOSHITOMO
2000-01-01

J-EAST (Japan) (Japanese)

108

Papillon-Lefèvre症候群と診断した姉弟例

角舘 直樹; 菅谷 勉; 小野 芳男; 木村 康一; 福島 千之; 藤澤 雅子; 永山 正人; 森田 学; 野村 和夫; 川浪 雅光

Journal@rchive (Japan) (Japanese)

109

Papillon-Lefèvre症候群と診断した姉弟例

角舘 直樹; 菅谷 勉; 小野 芳男; 木村 康一; 福島 千之; 藤澤 雅子; 永山 正人; 森田 学; 野村 和夫; 川浪 雅光
2007-01-01

J-STAGE (Japan) (Japanese)

110

Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

Periquet, M; Lucking, CB; Vaughan, JR; Bonifati, V; Durr, A; De Michele, G; Horstink, MW; Farrer, M; Illarioshkin, SN

A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent...

DRIVER (Japanese)

113

NBS患者細胞とNbs1 欠損マウス細胞の解析

初村 裕英; 加藤 晃弘; 松浦 伸也; 小松 賢志
2007-01-01

J-STAGE (Japan) (Japanese)

114

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

Saheki, T.; Kobayashi, K.; Terazono, H.; Shaheen, N.

Citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase. In order to characterize mutations in Japanese patients with classical citrullinemia, RNA isolated from 10 unrelated patients was reverse-transcribed, and cDNA amplified by PCR was cloned ...

DRIVER (Japanese)

117

MRE11遺伝子変異はセッケル症候群の発症に関与している

松本 祥幸; 坂本 裕美; 泉 秀樹; 宮本 達雄; 松浦 伸也
2008-01-01

J-STAGE (Japan) (Japanese)

118

Love between Genji and Utsusemi in The Tale of Genji-Discrete Wavelets Multi-Resolution Analysis-

INAMI MAYUMI; IWASAKI HARUMI; MIYAZAWA KENJI; TSUCHIYA HIROSHI; SAITO YOSHIFURU; HORII KIYOSHI
2005-01-01

J-EAST (Japan) (Japanese)

119

Localization of the autoimmune regulator (aire) protein in the gonads and embryonic stem cells in mice.

MASUDA ATSUHIRO; MITANI TASUKU; KATO HIROMI; MATSUMOTO KAZUYA; MATSUMOTO KAZUYA; SAEKI KAZUHIRO; SAEKI KAZUHIRO; HOSOI YOSHIHIKO; HOSOI YOSHIHIKO; IRITANI AKIRA; IRITANI AKIRA
2006-01-01

J-EAST (Japan) (Japanese)

120

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

Valente, EM; Bentivoglio, AR; Dixon, PH; Ferraris, A; Ialongo, T; Frontali, M; Albanese, A; Wood, NW

The cause of Parkinson disease (PD) is still unknown, but genetic factors have recently been implicated in the etiology of the disease. So far, four loci responsible for autosomal dominant PD have been identified. Autosomal recessive juvenile parkinsonism (ARJP) is a clinically and genetically disti...

DRIVER (Japanese)

123

Ion association in aqueous NiBr2 solution at high temperatures.

OKADA KAZUO; AMITA FUJITSUGU; KAJIMOTO OKITSUGU
2001-01-01

J-EAST (Japan) (Japanese)

125

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Nakai, A; Jin, B Y; Mizunuma, H; Mayumi, M; Koga, J; Yamamoto, Y; Kaji, S; Kikawa, Y; Inuzuka, M; Hata, I; Sudo, M; Fujisawa, K

Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive inherited disorder and may cause sudden unexpected infant death. We reported the first case of molecular diagnosis of FBPase deficiency, using cultured monocytes as a source for FBPase mRNA. In the present study, we confirmed ...

DRIVER (Japanese)

127

How much phenotypic variation can be attributed to parkin genotype?

Lohmann, E; Periquet, M; Bonifati, V; Wood, NW; De Michele, G; Bonnet, AM; Fraix, V; Broussolle, E; Horstink, MWIM; Vidailhet, M

To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symm...

DRIVER (Japanese)

130

Genetics of ischemic stroke

KOWA HISANORI; NAKASHIMA KENJI
2004-01-01

J-EAST (Japan) (Japanese)

133

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Lu, YB; Kobayashi, K; Ushikai, M; Tabata, A; Iijima, M; Li, MX; Lei, L; Kawabe, K; Taura, S; Yang, Y; Liu, TT; Chiang, SH; Hsiao, KJ

Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we h...

DRIVER (Japanese)

135

Fanconi-Bickel症候群の遺伝子解析

津田 正彦; 北沢 恵美子
2000-01-01

J-STAGE (Japan) (Japanese)

140

Effect of Eating during Break from Work

SHOJI NOBUE; MORI MIKI; ISHIDA HIROMI; UENISHI KAZUHIRO
2005-01-01

J-EAST (Japan) (Japanese)

141

Effect of C1q gene polymorphism on C1q production and lupus nephritis.

TOMITA HIDEAKI; MIURA YUKO; NAKAMURA KAZUHIRO; TSUDA HIROSHI; HASHIMOTO HIROSHI; HIROSE SACHIKO
2002-01-01

J-EAST (Japan) (Japanese)

145

Development of Self-stratifying Photocatalyst Coating

NAKABAYASHI AKIRA; OTA KAZUYA; OGUMA JUN'ICHI; NIGUMA TATSURO
2005-01-01

J-EAST (Japan) (Japanese)

146

Developement of Encountered-type Haptic Device Using Flexible Sheet

FURUKAWA TSUYOSHI; INOUE KENJI; TAKUBO TOMOHITO; ARAI TATSUO
2006-01-01

J-EAST (Japan) (Japanese)

148

Crigler-Najjar症候群II型の1例

細川 歩; 米沢 和彦; 池田 幸穂; 赤池 淳; 登坂 松三; 今井 浩三

Journal@rchive (Japan) (Japanese)

152

Autosomal recessive juvenile parkinsonism: Its pathogenesis is involved in the ubiquitin-proteasome pathway.

HATTORI NOBUTAKA; SHIMURA HIDEKI; KUBO SHIN'ICHIRO; SUZUKI TOSHIAKI; TANAKA KEIJI; MIZUNO YOSHIKUNI
2000-01-01

J-EAST (Japan) (Japanese)

153

Autonomous conveyance system using Bayesian inference.

KOBAYASHI FUTOSHI; YASUDA YUJI; KOJIMA FUMIO
2001-01-01

J-EAST (Japan) (Japanese)

154

Association between early-onset Parkinson's disease and mutations in the parkin gene

Lucking, CB; Durr, A; Bonifati, V; Vaughan, J; De Michele, G; Gasser, T; Harhangi, BS; Meco, G; Denefle, P; Wood, NW; Agid, Y

Background: Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients.Methods: We studied 73 families in which at least one of the a...

DRIVER (Japanese)

155

An Infant Case of Sideroblastic Anemia that Responded to Oral Pyridoxine.

KUDO KAZUKO; ITO MASAFUMI; HORIBE KEIZO; IWASE KATSUHIKO; KOJIMA SEIJI
1999-01-01

J-EAST (Japan) (Japanese)

156

Alport症候群

野津 寛大; 飯島 一誠; 松尾 雅文

Journal@rchive (Japan) (Japanese)

157

Alport症候群

野津 寛大; 飯島 一誠; 松尾 雅文
2008-01-01

J-STAGE (Japan) (Japanese)

159

Aceruloplasminemia.

MIYAJIMA HIROAKI
2000-01-01

J-EAST (Japan) (Japanese)

161

ARC症候群の1例

丸山 健一; 渡辺 美緒; 関 満; 畠山 信逸; 黒岩 実; 鬼形 和道

Journal@rchive (Japan) (Japanese)

162

ARC症候群の1例

丸山 健一; 渡辺 美緒; 関 満; 畠山 信逸; 黒岩 実; 鬼形 和道
2006-01-01

J-STAGE (Japan) (Japanese)

163

A study on the specificity of the OnTrak TesTstik screening kits for stimulants.

NAGAI TATSUO; KURASHIGE AYA; YANAGISAWA YUKO; OKAZAKI TOSHIO; AMEMIYA MASAYOSHI
2002-01-01

J-EAST (Japan) (Japanese)

164

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins

Di, WL; Hennekam, RC; Callard, RE; Harper, JI

BackgroundLoss-of-function mutations in the Kazal-type serine protease inhibitor, LEKTI, encoded by the SPINK5 gene cause the rare autosomal recessive skin disease Netherton syndrome (NS). G1258A polymorphism in SPINK5 may be associated with atopic dermatitis, which shares several clinical features ...

DRIVER (Japanese)

165

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Van Laer, Lut; Coucke, Paul; Mueller, RF; Caethoven, G; Flothmann, K; Prasad, SD; Chamberlin, GP; Houseman, M; Taylor, GR

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the h...

DRIVER (Japanese)

166

A case of solitary Peutz-Jeghers type polyp of the duodenal bulb.

YOKOTA TOMOYUKI; MATSUI HIDETAKA; SOGA YOSHIKO; KOBAYASHI YUICHI; KAJIWARA TAKESHI; IUCHI HIDETO; NINOMIYA TOMOYUKI; HORIIKE NORIO; ONJI MORIKAZU
2001-01-01

J-EAST (Japan) (Japanese)

169

A Japanese Family with Compound Heterozygote of Wilson's Disease Gene.

SHIONO YUTA; TAKIGAWA TOSHIKUNI; HAYASHI HISAO; OKADA TOSHIHIDE; TAKEDA YASUO; MABUCHI HIROSHI
1999-01-01

J-EAST (Japan) (Japanese)

170

A Case of Aceruloplasminemia Presenting as Cerebellar Ataxia with Homozygous Mutation nt2602 delG

NAGATA MIHOKO; TAKIYAMA YOSHIHISA; SHIMAZAKI HARUO; NAKANO IMAHARU; MIYAJIMA HIROAKI
2004-01-01

J-EAST (Japan) (Japanese)

178

3.若年性パーキンソニズム

服部 信孝; 波田野 靖子; 佐藤 健一; 水野 美邦

Journal@rchive (Japan) (Japanese)