Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. (Q31029305)

4 September 2017

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. (English)

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4 September 2017

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Helen J Lachmann

5

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Dorota Rowczenio

1

object named as

Dorota Rowczenio

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4 September 2017

Ahmet Dogan

2

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4 September 2017

Jason D Theis

3

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4 September 2017

Julie A Vrana

4

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4 September 2017

Ashutosh D Wechalekar

6

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4 September 2017

Janet A Gilbertson

7

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4 September 2017

Toby Hunt

8

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4 September 2017

Simon D J Gibbs

9

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4 September 2017

Prayman T Sattianayagam

10

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4 September 2017

Jenny H Pinney

11

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4 September 2017

Philip N Hawkins

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4 September 2017

Julian D Gillmore

13

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4 September 2017

language of work or name

English

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publication date

5 August 2011

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The American Journal of Pathology

4 September 2017

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4 September 2017

179

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4 September 2017

4

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4 September 2017

1978-1987

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Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens

4 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Prevalence of monoclonal gammopathy of undetermined significance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Highly sensitive, automated immunoassay for immunoglobulin free light chains in serum and urine.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Human lysozyme gene mutations cause hereditary systemic amyloidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hereditary renal amyloidosis with a novel variant fibrinogen.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Primary systemic amyloidosis: clinical and laboratory features in 474 cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Gene structure of human apolipoprotein A1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Variant apolipoprotein AI as a major constituent of a human hereditary amyloid

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

The amino acid sequence of human Apoa-I, an apolipoprotein isolated from high density lipoproteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

AL-amyloidosis is underdiagnosed in renal biopsies.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hepatic amyloidosis resulting from deposition of the apolipoprotein A-I variant Leu75Pro

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3181365

Unreliability of immunohistochemistry for typing amyloid deposits

25 November 2018

1 reference

12 December 2020

Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein AI gene: clinical and pathological features

1 reference

12 December 2020

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

1 reference

12 December 2020

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia

1 reference

12 December 2020

Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26

1 reference

12 December 2020

A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine

1 reference

12 December 2020

Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein

1 reference

12 December 2020

Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I

1 reference

12 December 2020

Extensive intimal apolipoprotein A1-derived amyloid deposits in a patient with an apolipoprotein A1 mutation

1 reference

12 December 2020

10.1016/J.AJPATH.2011.06.024

Identifiers

DOI

1 reference

release_cn2hf66hn5eajny5oga2ztpmta

4 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cn2hf66hn5eajny5oga2ztpmta

24 November 2022

mapped directly with Wikidata item

1 reference

4 September 2017

PubMed publication ID

21820994

1 reference