Clinical utility gene card for: ??-1-antitrypsin deficiency, European Journal of Human Genetics, vol.1, issue.5, 2011. ,
DOI : 10.1111/j.1651-2227.1997.tb08828.x
??1-Antitrypsin Binds to and Interferes with Functionality of EspB from Atypical and Typical Enteropathogenic Escherichia coli Strains, Infection and Immunity, vol.72, issue.8, pp.4344-4350, 2004. ,
DOI : 10.1128/IAI.72.8.4344-4350.2004
The discovery of ??1-antitrypsin and its role in health and disease, Respiratory Medicine, vol.105, issue.8, pp.1129-1139, 2011. ,
DOI : 10.1016/j.rmed.2011.02.002
Molecular mechanisms of alpha1-antitrypsin null alleles, Respiratory Medicine, vol.94, pp.7-11, 2000. ,
DOI : 10.1053/rmed.2000.0851
Human neutrophils express the alpha 1-antitrypsin gene and produce alpha 1-antitrypsin, Blood, vol.77, pp.2724-2730, 1991. ,
Expression of the alpha 1-proteinase inhibitor gene in human monocytes and macrophages., Proceedings of the National Academy of Sciences, vol.82, issue.3, pp.795-799, 1985. ,
DOI : 10.1073/pnas.82.3.795
Constitutive and modulated expression of the human alpha 1 antitrypsin gene. Different transcriptional initiation sites used in three different cell types., Journal of Clinical Investigation, vol.89, issue.4, pp.1214-1222, 1992. ,
DOI : 10.1172/JCI115705
??1-Antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy, Journal of Clinical Investigation, vol.110, issue.11, pp.1585-1590, 2002. ,
DOI : 10.1172/JCI0216782
Rare alpha-1-antitrypsin variants: are they really so rare?, Therapeutic Advances in Respiratory Disease, vol.6, issue.2, pp.79-85, 2012. ,
DOI : 10.1177/1753465811434320
Estimated numbers and prevalence of PI*S and PI*Z alleles of ??1-antitrypsin deficiency in European countries, European Respiratory Journal, vol.27, issue.1, pp.77-84, 2006. ,
DOI : 10.1183/09031936.06.00062305
Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes, Am J Hum Genet, vol.44, pp.844-854, 1989. ,
The mechanism of Z ??1-antitrypsin accumulation in the liver, Nature, vol.357, issue.6379, pp.605-607, 1992. ,
DOI : 10.1038/357605a0
alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]., American Journal of Respiratory Cell and Molecular Biology, vol.16, issue.3, pp.225-231, 1997. ,
DOI : 10.1165/ajrcmb.16.3.9070606
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin., Journal of Clinical Investigation, vol.83, issue.4, pp.1144-1152, 1989. ,
DOI : 10.1172/JCI113994
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele, Am J Hum Genet, vol.55, pp.1113-1121, 1994. ,
Deletion/frameshift mutation in the ?1 null allele, PI*QObolton, Human Genetics, vol.135, issue.4, pp.377-382, 1989. ,
DOI : 10.1007/BF00291385
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure., Journal of Clinical Investigation, vol.86, issue.6, pp.1878-1884, 1990. ,
DOI : 10.1172/JCI114919
Alpha-1 antitrypsin Null mutations and severity of emphysema, Respiratory Medicine, vol.102, issue.6, pp.876-884, 2008. ,
DOI : 10.1016/j.rmed.2008.01.009
??1-Antitrypsin Nonsense Mutation Associated with a Retained Truncated Protein and Reduced mRNA, Molecular Genetics and Metabolism, vol.63, issue.4, pp.270-280, 1998. ,
DOI : 10.1006/mgme.1998.2680
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon, J Biol Chem, vol.262, pp.11999-12004, 1987. ,
DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg), Hum Genet, vol.86, pp.522-524, 1991. ,
), World Journal of Hepatology, vol.5, issue.8, pp.458-461, 2013. ,
DOI : 10.4254/wjh.v5.i8.458
A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum, J Biol Chem, vol.263, pp.7330-7335, 1988. ,
Severe alpha-1 antitrypsin deficiency caused by Q0(Ourem) allele: clinical features, haplotype characterization and history, Clin Genet, vol.81, pp.462-469, 2012. ,
Identification of a Novel Alpha1-Antitrypsin Null Variant (Q0Cairo), Diagnostic Molecular Pathology, vol.14, issue.2, pp.121-124, 2005. ,
DOI : 10.1097/01.pas.0000155023.74859.d6
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences, Orphanet Journal of Rare Diseases, vol.3, issue.1, p.16, 2008. ,
DOI : 10.1186/1750-1172-3-16
URL : http://doi.org/10.1186/1750-1172-3-16
??1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G???A transition in position +1 of intron IC affecting normal mRNA splicing, Clinical Genetics, vol.16, issue.Suppl. C, pp.175-180, 2002. ,
DOI : 10.1034/j.1399-0004.2002.620212.x
Inherited Chronic Obstructive Pulmonary Disease: New Selective-Sequencing Workup for ??1-Antitrypsin Deficiency Identifies 2 Previously Unidentified Null Alleles, Clinical Chemistry, vol.54, issue.1, pp.101-107, 2008. ,
DOI : 10.1373/clinchem.2007.095125
URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.424.1553
Emphysema associated with complete absence of alpha 1-antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon, Am J Hum Genet, vol.42, pp.77-83, 1988. ,
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) NullNewport (Gly115?Ser) and (Pi) Z Wrexham (Ser?19?Leu), Human Genetics, vol.85, issue.5, pp.537-540, 1990. ,
DOI : 10.1007/BF00194233
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons, Am J Hum Genet, vol.47, pp.403-413, 1990. ,
Characterization of a human ??1-antitrypsin null allele involving aberrant mRNA splicing, Human Molecular Genetics, vol.2, issue.7, pp.1001-1005, 1993. ,
DOI : 10.1093/hmg/2.7.1001
Molecular Analysis of the Heterogeneity among the P-Family of Alpha-1-Antitrypsin Alleles, American Review of Respiratory Disease, vol.142, issue.5, pp.1185-1192, 1990. ,
DOI : 10.1164/ajrccm/142.5.1185
-Antitrypsin Deficiency in Patients with Chronic Obstructive Pulmonary Disease Using Dried Blood Specimens, American Journal of Respiratory and Critical Care Medicine, vol.166, issue.6, pp.814-817, 2002. ,
DOI : 10.1164/rccm.2203025
URL : https://hal.archives-ouvertes.fr/hal-00758412
SERPINA1 Gene Variants in Individuals from the General Population with Reduced ??1-Antitrypsin Concentrations, Clinical Chemistry, vol.54, issue.8, pp.1331-1338, 2008. ,
DOI : 10.1373/clinchem.2007.102798
Overlap extension PCR cloning: a simple and reliable way to create recombinant plasmids, BioTechniques, vol.48, issue.6, pp.463-465, 2010. ,
DOI : 10.2144/000113418
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121328
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes, Breast Cancer Research, vol.56, issue.Suppl 1, p.87, 2012. ,
DOI : 10.1373/clinchem.2009.132274
Report of nomenclature meeting for ??1-antitrypsin, Human Genetics, vol.74, issue.3, pp.429-433, 1980. ,
DOI : 10.1016/0003-2697(76)90327-4
The 1981 catalogue of assigned human genetic markers and report of the nomenclature committee, Sixth International Workshop on Human Gene Mapping, pp.221-245, 1981. ,
DOI : 10.1159/000131702
The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes, EMBO J, vol.6, pp.2767-2771, 1987. ,
Differential regulation of gene activity and chromatin structure within the human serpin gene cluster at 14q32.1 in macrophage microcell hybrids, Nucleic Acids Research, vol.28, issue.8, pp.1767-1777, 2000. ,
DOI : 10.1093/nar/28.8.1767
Stable expression and cell-specific chromatin structure of human alpha1-antitrypsin cosmid transgenes in rat hepatoma cells, Nucleic Acids Research, vol.28, issue.18, pp.3605-3614, 2000. ,
DOI : 10.1093/nar/28.18.3605
Pre-mRNA splicing in disease and therapeutics, Trends in Molecular Medicine, vol.18, issue.8, pp.472-482, 2012. ,
DOI : 10.1016/j.molmed.2012.06.006
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases, Trends in Biochemical Sciences, vol.25, issue.3, pp.106-110, 2000. ,
DOI : 10.1016/S0968-0004(00)01549-8