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Journal Abstract Search

124 related items for PubMed ID: 8838110

  • 1. [Alpha 1-antitrypsin deficiency in Japan].
    Seyama K, Nukiwa T, Kira S.
    Nihon Rinsho; 1996 Feb; 54(2):533-8. PubMed ID: 8838110
    [Abstract] [Full Text] [Related]

  • 2. [Alpha 1-antitrypsin genes in patients with alpha 1AT deficiency in Japan: mutational analysis and allelic background].
    Nukiwa T, Seyama K, Takahashi H, Kira S.
    Nihon Kyobu Shikkan Gakkai Zasshi; 1992 Aug; 30(8):1420-6. PubMed ID: 1434214
    [Abstract] [Full Text] [Related]

  • 3. Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.
    Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S.
    Am J Respir Crit Care Med; 1995 Dec; 152(6 Pt 1):2119-26. PubMed ID: 8520784
    [Abstract] [Full Text] [Related]

  • 4. Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.
    Callea F, Giovannoni I, Francalanci P, Boldrini R, Faa G, Medicina D, Nobili V, Desmet VJ, Ishak K, Seyama K, Bellacchio E.
    Orphanet J Rare Dis; 2018 May 16; 13(1):79. PubMed ID: 29769092
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.
    Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y.
    Am J Hum Genet; 1990 Mar 16; 46(3):602-12. PubMed ID: 2309708
    [Abstract] [Full Text] [Related]

  • 6. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.
    Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M, Crystal RG.
    J Biol Chem; 1986 Dec 05; 261(34):15989-94. PubMed ID: 3491072
    [Abstract] [Full Text] [Related]

  • 7. Genetic variants of alpha1-antitrypsin.
    Salahuddin P.
    Curr Protein Pept Sci; 2010 Mar 05; 11(2):101-17. PubMed ID: 19751191
    [Abstract] [Full Text] [Related]

  • 8. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.
    Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S.
    J Biol Chem; 1991 Jul 05; 266(19):12627-32. PubMed ID: 1905728
    [Abstract] [Full Text] [Related]

  • 9. [Alpha 1-antitrypsin deficiency (Siiyama) with pulmonary emphysema].
    Kadono K, Sakamoto T, Ohtsuka M, Kanashiki M, Murakami O, Hagiya M, Ishii Y, Nomura A, Satoh H, Inoue M, Uchida Y, Homma T, Sekizawa K, Hasegawa S.
    Nihon Kokyuki Gakkai Zasshi; 1999 Sep 05; 37(9):733-8. PubMed ID: 10540843
    [Abstract] [Full Text] [Related]

  • 10. Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype.
    Nukiwa T, Brantly M, Ogushi F, Fells G, Satoh K, Stier L, Courtney M, Crystal RG.
    Biochemistry; 1987 Aug 25; 26(17):5259-67. PubMed ID: 2890373
    [Abstract] [Full Text] [Related]

  • 11. Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.
    Curiel DT, Holmes MD, Okayama H, Brantly ML, Vogelmeier C, Travis WD, Stier LE, Perks WH, Crystal RG.
    J Biol Chem; 1989 Aug 15; 264(23):13938-45. PubMed ID: 2788166
    [Abstract] [Full Text] [Related]

  • 12. Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.
    Miyahara N, Seyama K, Sato T, Fukuchi Y, Eda R, Takeyama H, Harada M.
    Intern Med; 2001 Apr 15; 40(4):336-40. PubMed ID: 11334395
    [Abstract] [Full Text] [Related]

  • 13. [An alpha-1-antitrypsin deficiency allele PI*Siiyama found in a disputed paternity case].
    Umetsu K, Yuasa I, Watanabe G, Ding M, Suzuki T.
    Nihon Hoigaku Zasshi; 1996 Feb 15; 50(1):37-40. PubMed ID: 8851088
    [Abstract] [Full Text] [Related]

  • 14. Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsin.
    Janciauskiene S, Eriksson S, Callea F, Mallya M, Zhou A, Seyama K, Hata S, Lomas DA.
    Hepatology; 2004 Nov 15; 40(5):1203-10. PubMed ID: 15486938
    [Abstract] [Full Text] [Related]

  • 15. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.
    Curiel DT, Vogelmeier C, Hubbard RC, Stier LE, Crystal RG.
    Mol Cell Biol; 1990 Jan 15; 10(1):47-56. PubMed ID: 1967187
    [Abstract] [Full Text] [Related]

  • 16. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.
    Belmonte I, Barrecheguren M, López-Martínez RM, Esquinas C, Rodríguez E, Miravitlles M, Rodríguez-Frías F.
    Int J Chron Obstruct Pulmon Dis; 2016 Jan 15; 11():2535-2541. PubMed ID: 27877030
    [Abstract] [Full Text] [Related]

  • 17. Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
    Faber JP, Weidinger S, Olek K.
    Am J Hum Genet; 1990 Jun 15; 46(6):1158-62. PubMed ID: 2339709
    [Abstract] [Full Text] [Related]

  • 18. Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants.
    Sidhar SK, Lomas DA, Carrell RW, Foreman RC.
    J Biol Chem; 1995 Apr 14; 270(15):8393-6. PubMed ID: 7721731
    [Abstract] [Full Text] [Related]

  • 19. Allelic frequency of pathogenic α1-antitrypsin variants in the Japanese population: Results from a survey of open Japanese genetic variation databases.
    Seyama K, Sato T, Sato S, Hirai T, Intractable Respiratory Diseases and Pulmonary Hypertension Research Group, Ministry of Health, Labour and Welfare of Japan.
    Respir Investig; 2024 Sep 14; 62(5):794-797. PubMed ID: 38996780
    [Abstract] [Full Text] [Related]

  • 20. Enigma of alpha1-antitrypsin: alpha1-antitrypsin deficiency reveals a puzzling physiological function.
    Nukiwa T.
    Intern Med; 2001 Apr 14; 40(4):271-2. PubMed ID: 11334382
    [No Abstract] [Full Text] [Related]

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