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  • 1-10 of  119 results for ""MEMBRANE proteins""
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Academic Journal

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

  • Authors : Kunii M; Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.; Doi H

Subjects: Homozygote* ; Mutation*; Asian Continental Ancestry Group/Asian Continental Ancestry Group/Asian Continental Ancestry Group/*genetics Mitochondrial Complex III Deficiency

  • Source: Journal of human genetics [J Hum Genet] 2015 Apr; Vol. 60 (4), pp. 187-91. Date of Electronic Publication: 2015 Feb 05.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The tumor-suppressive microRNA-143/145 cluster inhibits cell migration and invasion by targeting GOLM1 in prostate cancer.

  • Authors : Kojima S; Department of Urology, Teikyo University Chiba Medical Center, Chiba, Japan.; Enokida H

Subjects: Cell Movement* ; Gene Expression Regulation* ; Multigene Family*

  • Source: Journal of human genetics [J Hum Genet] 2014 Feb; Vol. 59 (2), pp. 78-87. Date of Electronic Publication: 2013 Nov 28.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

  • Authors : Kytövuori L; Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.; Seppänen A

Subjects: Genetic Predisposition to Disease* ; Genetic Variation* ; Suicide*

  • Source: Journal of human genetics [J Hum Genet] 2013 Aug; Vol. 58 (8), pp. 495-500. Date of Electronic Publication: 2013 Apr 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line.

  • Authors : Fujimoto T; Department of Cell Biology, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.; Koyanagi M

Subjects: Gene Expression Regulation, Neoplastic*; Colonic Neoplasms/Colonic Neoplasms/Colonic Neoplasms/*chemistry ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2007; Vol. 52 (12), pp. 978-984. Date of Electronic Publication: 2007 Oct 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Association studies of SEPS1 gene polymorphisms with Hashimoto's thyroiditis in Han Chinese.

  • Authors : Li M; Department of Ultrasound, Second Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.; Liu B

Subjects: Polymorphism, Single Nucleotide*; Asian Continental Ancestry Group/Asian Continental Ancestry Group/Asian Continental Ancestry Group/*genetics ; Hashimoto Disease/Hashimoto Disease/Hashimoto Disease/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2015 Aug; Vol. 60 (8), pp. 427-33. Date of Electronic Publication: 2015 May 28.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations.

  • Authors : Hong KW; Division of Epidemiology and Health Index, Center for Genome Science, Korea Centers for Disease Control and Prevention, Cheongju-si, Korea.; Lyu J

Subjects: Polymorphism, Single Nucleotide*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics ; Cardiovascular Diseases/Cardiovascular Diseases/Cardiovascular Diseases/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2015 Mar; Vol. 60 (3), pp. 113-8. Date of Electronic Publication: 2015 Jan 22.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

  • Authors : Otagiri T; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.; Sugai K

Subjects: Mutation*; Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2006; Vol. 51 (7), pp. 625-8. Date of Electronic Publication: 2006 Jun 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Deregulated expression of KRAP, a novel gene encoding actin-interacting protein, in human colon cancer cells.

  • Authors : Inokuchi J; Department of Pathology, Research Institute, International Medical Center of Japan, 1-21-1 Toyama, Shinjuku-ku, Tokyo 162-8655, Japan.; Department of Urology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

Subjects: Gene Expression Regulation* ; Signal Transduction*; Genes, ras/Genes, ras/Genes, ras/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2004; Vol. 49 (1), pp. 46-52. Date of Electronic Publication: 2003 Dec 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.

  • Authors : Nakayama K; Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan.; Fukamachi S

Subjects: Membrane Proteins* ; Polymorphism, Single Nucleotide*; Proteins/Proteins/Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2002; Vol. 47 (2), pp. 92-4.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print)

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Academic Journal

The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.

Subjects: Membrane Proteins* ; Mutation, Missense* ; Polymorphism, Single Nucleotide*

  • Source: Journal of human genetics [J Hum Genet] 2001; Vol. 46 (9), pp. 547-8.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print)

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  • 1-10 of  119 results for ""MEMBRANE proteins""