Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein
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Helen J. Lachmann | Julian D. Gillmore | Dorota Rowczenio | Janet A. Gilbertson | Philip N. Hawkins | K. Heimdal | P. Hawkins | Y. Efebera | G. D. de Souza | S. Minogue | N. Rendell | A. Wechalekar | D. Rowczenio | H. Lachmann | J. Gillmore | J. Gilbertson | Ashutosh D. Wechalekar | M. Stensland | Gustavo A. de Souza | E. Strøm | Maria Stensland | Erik H. Strøm | Graham Taylor | Nigel Rendell | Shane Minogue | Yvonne A. Efebera | Ketil R. Heimdal | Kristian Selvig | Inger K. Lægreid | Nathalie Demoulin | Selda Aydin | Tale N. Wien | S. Aydın | N. Demoulin | I. Lægreid | T. N. Wien | G. Taylor | Kristian Selvig
[1] D. Booth,et al. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. , 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[2] D. Booth,et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. , 2002, The New England journal of medicine.
[3] M. Skinner,et al. New USA Family has Apolipoprotein AI (ARG26) Variant , 1991 .
[4] J. Kere,et al. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene , 1990, FEBS letters.
[5] J. Liepnieks,et al. Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein. , 1997, Blood.
[6] D. Booth,et al. Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. , 1996, The Journal of clinical investigation.
[7] Michael T. Zimmermann,et al. Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII. , 2017, Journal of the American Society of Nephrology : JASN.
[8] J. Liepnieks,et al. Hereditary renal amyloidosis with a novel variant fibrinogen. , 1994, The Journal of clinical investigation.
[9] P. Hawkins,et al. Organ Transplantation in Hereditary Apolipoprotein AI Amyloidosis , 2006, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.
[10] P. Talmud,et al. D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile , 2016, Nature Communications.
[11] P. Hawkins,et al. Amyloid Typing: Experience from a Large Referral Centre , 2012 .
[12] C. Zeng,et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis. , 2009, Journal of the American Society of Nephrology : JASN.
[13] D. Booth,et al. A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. , 1995, QJM : monthly journal of the Association of Physicians.
[14] J. Liepnieks,et al. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. , 1996, Blood.
[15] P. Talmud,et al. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. , 1991, Atherosclerosis.
[16] D. Booth,et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. , 2000, QJM : monthly journal of the Association of Physicians.
[17] D. N. Perkins,et al. Probability‐based protein identification by searching sequence databases using mass spectrometry data , 1999, Electrophoresis.
[18] P. Hawkins,et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. , 2011, The American journal of pathology.
[19] E. Arbustini,et al. The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. , 1999, The American journal of pathology.
[20] D. Ostler,et al. Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis. , 2000, The American journal of pathology.
[21] D. Booth,et al. Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. , 1998, Kidney international.
[22] P. Hawkins,et al. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[23] E. Arbustini,et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. , 2004, Gastroenterology.
[24] J. Liepnieks,et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. , 1999, The American journal of pathology.
[25] M. Gertz,et al. Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro. , 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[26] J. Ghiso,et al. Mutation in gelsolin gene in Finnish hereditary amyloidosis , 1990, The Journal of experimental medicine.
[27] C. Hofmeister,et al. Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred , 2014, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[28] J. Liepnieks,et al. Hereditary renal amyloidosis associated with a mutant fibrinogen α–chain , 1993, Nature Genetics.
[29] J. Liepnieks,et al. A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. , 1999, Biochemical and biophysical research communications.
[30] P. Hawkins,et al. Hereditary fibrinogen A alpha-chain amyloidosis: clinical phenotype and role of liver transplantation. , 2010, Blood.
[31] D. Booth,et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis , 1993, Nature.
[32] H. R. Bergen,et al. Immunoglobulin derived depositions in the nervous system: novel mass spectrometry application for protein characterization in formalin-fixed tissues , 2008, Laboratory Investigation.
[33] J. Liepnieks,et al. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. , 2001, Genomics.
[34] J. Ghiso,et al. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. , 1990, The Biochemical journal.