*  Alpha-1 antitrypsin
DeMeo DL, Silverman EK (March 2004). "Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: ... Recombinant alpha-1 antitrypsin is not yet available for use as a drug but is under investigation as a therapy for alpha-1 ... Alpha-1-antitrypsin or α1-antitrypsin (A1AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in ... The alpha region can be further divided into two sub-regions, termed "1" and "2". Alpha-1 antitrypsin is the main protein of ...
*  Pancreatic elastase
Alpha 1-antitrypsin and alpha-2-macroglobulin are human serum protease inhibitors that completely inhibit the general ... Pancreatic elastase 1 is a serine endopeptidase, a specific type of protease that has the amino acid serine at its active site ... Elastase 1 is slightly inhibited above 150 mM NaCl Mutations of the CELA1 gene were suspected to be associated with diffuse ... 12 (1): 170-6. doi:10.1111/j.1432-1033.1970.tb00835.x. PMID 5461547. "CELA1 Gene". GeneCards. Davies RL, Yoon SJ, Weissenbach J ...
*  Alpha 1-antitrypsin deficiency
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Onset of ... Alpha 1-antitrypsin levels in the blood depend on the genotype. Some mutant forms fail to fold properly and are, thus, targeted ... Alpha-1 antitrypsin deficiency was first described in the 1960s. Play media Symptoms of alpha-1 antitrypsin deficiency include ... A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT). Risk factors for lung ...
*  DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Alpha-1 Antitrypsin Deficiency
A deficiency of the enzyme alpha 1-antitrypsin results in low levels or a lack of an essential blood protein that protects ... "Health ... Alpha-1 Antitrypsin Deficiency" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ... Understanding Alpha-1 Antitrypsin Deficiency Information on signs and symptoms of this disorder, as well as risk factors and ... Canadian Liver Foundation: Alpha-1 Antitrypsin Deficiency Reviews the cause, symptoms, risk of lung and liver disease, and ...
*  Cirrhosis
Alpha 1-antitrypsin deficiency (A1AD). Autosomal recessive disorder of decreased levels of the enzyme alpha 1-antitrypsin. ... but may help in distinguishing various causes Cholesterol and glucose Alpha 1-antitrypsin Ultrasound is routinely used in the ... 35 (1): 201-19. doi:10.1016/j.gtc.2005.12.007. PMID 16530121. Poonja, Z; Brisebois, A; van Zanten, SV; Tandon, P; Meeberg, G; ... 5 (1): 35-45. doi:10.1055/s-2008-1041756. PMID 3983651. van Thiel, DH; Gavaler, JS; Spero, JA; Egler, KM; Wright, C; Sanghvi, ...
*  Lung transplantation
... alpha 1-antitrypsin deficiency; 2% replacing previously transplanted lungs that have since failed; 24% other causes, including ... 109 (1): 49-59. doi:10.1016/S0022-5223(95)70419-1. Merck Manual 18th ed. p. 1377 "2008 OPTN/SRTR Annual Report". US Scientific ... 1 May 2008. Archived from the original on 5 June 2010. Retrieved 28 July 2010. Arcasoy, Selim M.; Kotloff, Robert M. (1999). " ...
*  Liver disease
"Alpha-1 Antitrypsin Deficiency: MedlinePlus". www.nlm.nih.gov. Retrieved 2015-06-20. Leslie, Nancy; Tinkle, Brad T. (1993). ... Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease type II. In ... 327 (1-2): 26-47. doi:10.1016/j.canlet.2012.01.016. PMID 22293091. Nishida N, Kudo M (2013). "Oxidative stress and epigenetic ... 25 (1): 142-163. doi:10.1128/CMR.00018-11. PMC 3255968 . PMID 22232374. Suk KT, Kim MY, Baik SK (September 2014). "Alcoholic ...
*  Bronchiectasis
People with alpha 1-antitrypsin deficiency have been found to be particularly susceptible to bronchiectasis, due to the loss of ... Shin MS, Ho KJ (1993). "Bronchiectasis in patients with alpha 1-antitrypsin deficiency. A rare occurrence?". Chest. 104 (5): ... The disease affects between 1 per 1000 and 1 per 250,000 adults. The disease is more common in women and increases as people ... The disease affects between 1 per 1000 and 1 per 250,000 adults. The disease is more common in women and increases as people ...
*  Hepcidin
Pandur E, Nagy J, Poór VS, Sarnyai A, Huszár A, Miseta A, Sipos K (April 2009). "Alpha-1 antitrypsin binds preprohepcidin ... This conversion may be regulated by alpha-1 antitrypsin. Hepcidin is a tightly folded polypeptide with 32% beta sheet character ... 93 (1): 90-7. doi:10.3324/haematol.11705. PMID 18166790. Bregman DB, Morris D, Koch TA, He A, Goodnough LT (February 2013). " ... Krause A, Neitz S, Mägert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K (September 2000). "LEAP-1, a novel highly ...
*  Panniculitis
Alpha 1-antitrypsin deficiency, also, is a major cause of Panniculitis. Lipoatrophy or lipodystrophy (the loss of subcutaneous ... Alpha-1 antitrypsin deficiency panniculitis is a panniculitis associated with a deficiency of the α1-antitrypsin enzyme. ... ISBN 1-4160-2999-0. Epstein, Ervin and Oren, Mark, "Popsicle Panniculitis" "The New England Journal of Medicine", 282 (17) : ... ISBN 1-4160-2999-0. Gilchrist, H; Patterson, JW (Jul-Aug 2010). "Erythema nodosum and erythema induratum (nodular vasculitis): ...
*  Chronic obstructive pulmonary disease
The effectiveness of alpha-1 antitrypsin augmentation treatment for people who have alpha-1 antitrypsin deficiency is unclear. ... In areas of the world where alpha-1 antitrypsin deficiency is common, people with COPD (particularly those below the age of 45 ... Currently, the only clearly inherited risk factor is alpha 1-antitrypsin deficiency (AAT). This risk is particularly high if ... Brode SK, Ling SC, Chapman KR (September 2012). "Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease". ...
*  Weber-Christian disease
Alpha-1 antitrypsin deficiency panniculitis List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph ... ISBN 1-4160-2999-0. "Weber-Christian disease" at Dorland's Medical Dictionary Weber-Christian disease at Who Named It? Weber, F ... doi:10.1111/j.1365-2133.1925.tb10003.x. Christian, Henry Asbury (1 September 1928). "Relapsing febrile nodular nonsuppurative ...
*  Health of Frédéric Chopin
A hypothesis of alpha 1-antitrypsin deficiency was proposed by Kuzemko in 1994. According to this hypothesis, Emilia's fatal ... Kubba and Young pointed out a number of other conceivable, if unlikely, diagnoses, besides cystic fibrosis and alpha 1- ... secondary to liver cirrhosis in the course of alpha 1-antitrypsin deficiency. Frédéric's symptoms of liver insufficiency would ... 44 (1): 77-84. PMID 12590184. Kubba, AK; Young, M (1998). "The long suffering of Frederic Chopin". Chest. 113 (1): 210-6. doi: ...
*  Hepatitis
In alpha-1-antitrypsin deficiency, a co-dominant mutation in the gene for alpha-1-antitrypsin results in the abnormal ... Interferon alpha has proven effective at inhibiting viral activity but only on a temporary basis. Similar to hepatitis A, ... When the liver is involved, alpha-1-antitrypsin deficiency and Wilson's disease tend to present as hepatitis in the neonatal ... There have been 7 drug treatments approved to date in the United States: Injectable interferon alpha was the first therapy ...
*  Haptoglobin
... comparison of complementary DNA encoding Hp alpha 1S and Hp alpha 2FS". Nucleic Acids Res. 12 (11): 4531-8. doi:10.1093/nar/ ... "Characterization of human haptoglobin cDNAs coding for alpha 2FS beta and alpha 1S beta variants". FEBS Lett. 168 (1): 103-7. ... This gene encodes a preproprotein that is processed to yield both alpha and beta chains, which subsequently combines as a ... van der Straten A, Falque JC, Loriau R, Bollen A, Cabezón T (1986). "Expression of cloned human haptoglobin and alpha 1- ...
*  Reference ranges for blood tests
"Alpha-1 antitrypsin deficiency: an overlooked cause of late hemorrhagic disease of the newborn". Journal of Pediatric ... Last revised 1/15/2013 Derived from mass values using molar mass of 90.08 g/mol Derived from mass values using molar mass of ... 1, 1999 (stating 1.9-3.3 g/L) Derived by dividing mass values with molar mass Ferritin by: Mark Levin, MD, Hematologist and ... Derived from molar values using molar mass of 22.99 g•mol−1 Derived from molar values using molar mass of 39.10 g•mol−1 MERCK ...
*  Myeong-Hee Yu
Much of Yu's work has focused on unlocking the structure and folding of the protein alpha-1 antitrypsin, which is a serpin ... Yu, Myeong-Hee; Lee, Kee Nyung; Kim, Jeongho (1995-05-01). "The Z type variation of human α1-antitrypsin causes a protein ... She has also patented the alpha-1 antritrypsin mutein with a disulfide bond and the method for preparing it along with her ... "Single amino acid substitutions of alpha 1-antitrypsin that confer enhancement in thermal stability". The Journal of Biological ...
*  Progressive disease
Lungs: Emphysema due to alpha-1 antitrypsin deficiency is a slowly progressive pulmonary disease. Kidneys: Goodpasture's ... Pancreas: Type 1 diabetes mellitus involves rapidly progressive loss of insulin secretory capacity compared to type 2 diabetes ...
*  Serpin
Owen MC, Brennan SO, Lewis JH, Carrell RW (September 1983). "Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin ... Well-characterised serpinopathies include α1-antitrypsin deficiency (alpha-1), which may cause familial emphysema and sometimes ... For example, the Antitrypsin-Pittsburgh mutation (M358R) causes the α1-antitrypsin serpin to inhibit thrombin, causing a ... Antitrypsin augmentation therapy is approved for severe antitrypsin deficiency-related pulmonary emphysema. In this therapy, ...
*  Granulomatous mastitis
Alpha 1-antitrypsin deficiency was documented in one case, interferon-alpha therapy in another case. Similar cases of ... Shaaban, H.; Slim, J.; Choo, H. (2012). "Idiopathic granulomatous mastitis as a complication of interferon-alpha therapy". ... 18 (1): 27-36. PMID 9157401. Lai, E. C. H.; Chan, W. C.; Ma, T. K. F.; Tang, A. P. Y.; Poon, C. S. P.; Leong, H. T. (2005). " ... 11 (1): 73. doi:10.1111/j.1075-122X.2005.21404.x. PMID 15647084. Goldberg, J.; Baute, L.; Storey, L.; Park, P. (2000). " ...
*  Heparin cofactor II
This protein shares homology with antithrombin and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene ... 88 (1): 89-97. PMID 12152684. Hayakawa Y, Hirashima Y, Kurimoto M, et al. (2002). "Contribution of basic residues of the A ... 61 (1): 111-118. Pizzo SV (1989). "Serpin receptor 1: a hepatic receptor that mediates the clearance of antithrombin III- ... 522 (1-3): 147-50. doi:10.1016/S0014-5793(02)02930-7. PMID 12095635. Mitchell JW, Church FC (2002). "Aspartic acid residues 72 ...
*  SERPINB10
Serpins are characterized by a well-conserved tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices. A ... Schleef RR, Chuang TL (August 2000). "Protease inhibitor 10 inhibits tumor necrosis factor alpha -induced cell death. Evidence ... "Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins". Biochemistry. 28 ... doi:10.1007/s10038-005-0285-1. PMID 16172807. Riewald M, Schleef RR (November 1995). "Molecular cloning of bomapin (protease ...
*  CDIPT
2005). "Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles". Monaldi Archives ... 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97 ... 138 (1-2): 171-4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). " ... 200 (1-2): 149-56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. Strausberg RL, Feingold EA, Grouse LH, et al. (2003). " ...
*  AMFR
"Ubiquitin ligase gp78 increases solubility and facilitates degradation of the Z variant of alpha-1-antitrypsin". Biochem. ... 128 (1): 9-13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse ... 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. Registre M, Goetz JG, St Pierre P, et al. (2004). "The gene product of the ... Song BL, Sever N, DeBose-Boyd RA (2005). "Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples ...
*  SERPINA2
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 is a protein that in humans is encoded by ... antitrypsin like gene it was discovered that SERPINA2 did not have any promoter but did contain substantial homology to ... Rollini P, Fournier RE (December 1997). "Molecular linkage of the human alpha 1-antitrypsin and corticosteroid-binding globulin ... antitrypsin), member 2". Retrieved 2017-09-21. Hofker MH, Nelen M, Klasen EC, Nukiwa T, Curiel D, Crystal RG, Frants RR ( ...
*  Dutch hypothesis
... involving alpha 1-antitrypsin overexpression and consequent alpha-1 proteinase deficiency), the British hypothesis (regarding a ... ISBN 978-1-119-96373-8. Retrieved 15 November 2012. Richard A. King; Jerome I. Rotter; Arno G. Motulsky (17 October 2002). The ...
*  Variegate porphyria
July 1988). "Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14". Hum. ... ISBN 1-4160-2999-0. This article incorporates public domain text from The U.S. National Library of Medicine Variegate porphyria ... In Finland, the prevalence is approximately 1 in 75.000. When it does occur in other populations (such as Switzerland), it can ... ISBN 978-1-4051-3400-2. Mustajoki, P. (1980). "Variegate porphyria. Twelve years' experience in Finland". The Quarterly journal ...