Condition: alpha 1-Antitrypsin Deficiency


rs1057519610 in SERPINA1 gene and alpha 1-Antitrypsin Deficiency PMID 14985567 2004 Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk.

PMID 2227940 1990 Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).

PMID 15744045 2005 Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.

PMID 14767073 2004 Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants.

PMID 17906067 2007 "Genotypes and serum concentrations of human alpha-1-antitrypsin ""P"" protein variants in a clinical population."

PMID 21474916 2011 Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area.

PMID 15949707 2005 Comparison of the properties of rare variants of alpha1-proteinase inhibitor expressed in COS-1 cells and assessment of their potential as risk factors in human disease.

PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

PMID 2240842 1990 Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.

PMID 9635295 1998 Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

PMID 8970361 1996 Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.

PMID 25454901 2015 The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 22426792 2012 Serum levels and genotype distribution of α1-antitrypsin in the general population.

PMID 2567291 1989 Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.

PMID 20981092 2010 A map of human genome variation from population-scale sequencing.

PMID 26672964 2015 Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland.

PMID 23632999 2013 α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.

PMID 1889260 1991 Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes.

PMID 26141072 2015 PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD.

PMID 26831755 2016 A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

PMID 22933512 2012 Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review.

PMID 24055113 2013 Actionable, pathogenic incidental findings in 1,000 participants' exomes.

PMID 15978931 2005 Alpha1-antitrypsin deficiency.

PMID 25391508 2014 Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy.

PMID 27296815 2016 Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.

PMID 2784123 1989 A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

PMID 26321041 2015 SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.

PMID 18024524 2008 Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles.

PMID 10234508 1999 Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).

PMID 3040726 1987 alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.

PMID 2481421 1989 Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state.

PMID 18353624 2008 Alpha-1 antitrypsin Null mutations and severity of emphysema.

PMID 2642408 1989 The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy.

PMID 7980208 1994 Absence of alpha-1-antitrypsin (Pi Null Bellingham) and the early onset of emphysema.

PMID 3257351 1988 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.

PMID 19444872 2009 Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.

PMID 22971141 2012 Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.

PMID 9195389 1997 Review: alpha 1-antitrypsin deficiency associated liver disease.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 21067581 2010 Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.

PMID 6306478 1983 alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

PMID 15454649 2004 Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.

PMID 3264419 1988 Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model.

PMID 19738092 2009 Genetic modifiers of liver disease in cystic fibrosis.

PMID 3500183 1987 Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.

PMID 7045697 1982 Structure and variation of human alpha 1-antitrypsin.

PMID 1608473 1992 The mechanism of Z alpha 1-antitrypsin accumulation in the liver.

PMID 3484754 1986 "Evaluation of ""at risk"" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes."

PMID 22912729 2012 SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort.

PMID 2700304 1989 Alpha-1-antitrypsin deficiency: accumulation or degradation of mutant variants within the hepatic endoplasmic reticulum.

PMID 22735536 2012 Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment.

PMID 26987331 2016 Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.

PMID 24428606 2014 Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes.

PMID 23858502 2013 A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.

PMID 9569237 1998 Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema.

PMID 2904702 1988 Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation.

PMID 24518491 2014 Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis.

PMID 18515255 2008 SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.

PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

PMID 25181470 2014 The Z mutation alters the global structural dynamics of α1-antitrypsin.

PMID 23837941 2014 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

PMID 12034572 2002 Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema.

PMID 14522813 2003 American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

PMID 2339709 1990 Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.

PMID 26304913 2015 Fibrinogen and α1-antitrypsin in COPD exacerbations.

PMID 19083091 2009 Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study.

PMID 21637600 2010 Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD).

PMID 26243289 2015 Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.

PMID 24328305 2014 Increased outer arm and core fucose residues on the N-glycans of mutated alpha-1 antitrypsin protein from alpha-1 antitrypsin deficient individuals.

PMID 18340647 2008 Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 21960536 2012 A review of α1-antitrypsin deficiency.

PMID 1967187 1990 Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.

PMID 3262617 1988 "Characterization of the gene and protein of the alpha 1-antitrypsin ""deficiency"" allele Mprocida."

PMID 24713750 2014 Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.

PMID 21752289 2011 The prevalence of alpha-1 antitrypsin deficiency in Ireland.

PMID 2606478 1989 Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).

PMID 22912357 2012 Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations.

PMID 10194472 1999 Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.

PMID 3496639 1987 Study of familial alpha-1-proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ). I. Alpha-1-phenotyping and clinical investigations.

PMID 1504305 1992 Molecular characterization of the P and I variants of alpha 1-antitrypsin.

PMID 17964515 2007 Laboratory diagnosis of alpha1-antitrypsin deficiency.

PMID 2254451 1990 A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.

PMID 1905728 1991 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.

PMID 15486938 2004 Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsin.

PMID 8520784 1995 Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.

PMID 8340361 1993 Alpha 1-antitrypsin Siiyama (Ser53-->Phe). Further evidence for intracellular loop-sheet polymerization.

PMID 22016686 2011 Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency.

PMID 8358043 1993 PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan.

PMID 19437508 2009 Molecular characterization of the new defective P(brescia) alpha1-antitrypsin allele.

PMID 11214903 2001 Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism.

PMID 22723858 2012 Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.

PMID 19654085 2010 [Biochemical and molecular diagnosis of alpha 1 antitrypsin deficiency in a Tunisian family].

PMID 11474657 2001 Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation.

PMID 8364536 1993 Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing.

PMID 10954248 2000 Molecular mechanisms of alpha1-antitrypsin null alleles.

PMID 2539391 1989 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.

PMID 26604020 2016 [Alpha-1 antitrypsin deficiency caused by Null mutation].

PMID 1730596 1992 Secretion of alpha-1-proteinase inhibitor requires an almost full length molecule.

PMID 9070606 1997 alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published].

PMID 7977369 1994 Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

PMID 11334395 2001 Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.

PMID 24183282 2013 Alpha-1-antitrypsin deficiency associated with the Mattawa variant.

PMID 24969923 2014 Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

PMID 22291048 2012 Rare alpha-1-antitrypsin variants: are they really so rare?

PMID 3491442 1986 Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study.

PMID 2788166 1989 Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.

PMID 6600898 1983 Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin.

PMID 2786335 1989 In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

PMID 21457231 2012 Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.

PMID 12220457 2002 alpha1-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.

PMID 25425243 2014 Identification and characterisation of eight novel SERPINA1 Null mutations.