Literature DB >> 2394452

Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.

A Graham1, K Hayes, S Weidinger, C R Newton, A F Markham, N A Kalsheker.   

Abstract

By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.

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Year:  1990        PMID： 2394452     DOI： 10.1007/bf00206766

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.

Authors:  T Nukiwa; M L Brantly; F Ogushi; G A Fells; R G Crystal
Journal:  Am J Hum Genet       Date:  1988-09       Impact factor: 11.025

2.  Restriction enzyme MaeIII for prenatal diagnosis of alpha 1-antitrypsin deficiency.

Authors:  D W Cox; G D Billingsley
Journal:  Lancet       Date:  1986-09-27       Impact factor: 79.321

3.  Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products.

Authors:  C R Newton; N Kalsheker; A Graham; S Powell; A Gammack; J Riley; A F Markham
Journal:  Nucleic Acids Res       Date:  1988-09-12       Impact factor: 16.971

4.  Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.

Authors:  S Weidinger; W Jahn; F Cujnik; F Schwarzfischer
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

Authors:  T Nukiwa; K Satoh; M L Brantly; F Ogushi; G A Fells; M Courtney; R G Crystal
Journal:  J Biol Chem       Date:  1986-12-05       Impact factor: 5.157

6.  The amino acid substitutions of human alpha 1-antitrypsin M3, X and Z.

Authors:  J O Jeppsson; C B Laurell
Journal:  FEBS Lett       Date:  1988-04-25       Impact factor: 4.124
  6 in total
  5 in total

1.  Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).

Authors:  A Graham; N A Kalsheker; F J Bamforth; C R Newton; A F Markham
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Secretion of functional α1-antitrypsin is cell type dependent: Implications for intramuscular delivery for gene therapy.

Authors:  Haiping Ke; Kevin P Guay; Terence R Flotte; Lila M Gierasch; Anne Gershenson; Daniel N Hebert
Journal:  Proc Natl Acad Sci U S A       Date:  2022-07-28       Impact factor: 12.779

3.  SeMoP: a new computational strategy for the unrestricted search for modified peptides using LC-MS/MS data.

Authors:  Christian Baumgartner; Tomas Rejtar; Majlinda Kullolli; Lakshmi Manohar Akella; Barry L Karger
Journal:  J Proteome Res       Date:  2008-08-08       Impact factor: 4.466

4.  Aggregation of M3 (E376D) variant of alpha1- antitrypsin.

Authors:  Arif Bashir; Younis Hazari; Debnath Pal; Dibyajyoti Maity; Samirul Bashir; Laishram Rajendrakumar Singh; Naveed Nazir Shah; Khalid Majid Fazili
Journal:  Sci Rep       Date:  2020-05-19       Impact factor: 4.379

5.  Multiplex quantification of C-terminal alpha-1-antitrypsin peptides provides a novel approach for characterizing systemic inflammation.

Authors:  Arite Bigalke; Christoph Sponholz; Claudia Schnabel; Michael Bauer; Michael Kiehntopf
Journal:  Sci Rep       Date:  2022-03-09       Impact factor: 4.379
  5 in total

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