Transthyretin mutations in hyperthyroxinemia and amyloid diseases (Q34269382)

1 August 2017

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title

Transthyretin mutations in hyperthyroxinemia and amyloid diseases (English)

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1 August 2017

Saraiva MJ

1

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1 August 2017

publication date

1 June 2001

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1 August 2017

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1 August 2017

volume

17

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1 August 2017

issue

6

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1 August 2017

page(s)

493-503

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A New Simple and Rapid Screening Method for Variant Transthyretin-Related Amyloidosis

1 August 2017

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Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis

21 January 2018

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21 January 2018

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Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues

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Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

21 January 2018

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Exposure of cryptic epitopes on transthyretin only in amyloid and in amyloidogenic mutants

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21 January 2018

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Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

21 January 2018

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Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate

21 January 2018

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Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70

21 January 2018

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Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

21 January 2018

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Transthyretin Ser 6 gene frequency in individuals without amyloidosis.

21 January 2018

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Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans

21 January 2018

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A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis

21 January 2018

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Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.

21 January 2018

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A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

21 January 2018

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A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin

21 January 2018

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4'-Iodo-4'-deoxydoxorubicin disrupts the fibrillar structure of transthyretin amyloid

21 January 2018

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Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis

21 January 2018

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Transthyretin amyloidosis: a new mutation associated with dementia

21 January 2018

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New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis

21 January 2018

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Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

21 January 2018

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Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques

21 January 2018

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Structure of the chromosomal gene for human serum prealbumin

21 January 2018

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Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).

21 January 2018

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A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

21 January 2018

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A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient

21 January 2018

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A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy

21 January 2018

1 reference

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A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.1132

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.1132

Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis

21 January 2018

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Fibril in senile systemic amyloidosis is derived from normal transthyretin

21 January 2018

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A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

21 January 2018

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Analysis of x-ray diffraction patterns from amyloid of biopsied vitreous humor and kidney of transthyretin (TTR) Met30 familial amyloidotic polyneuropathy (FAP) patients: axially arrayed TTR monomers constitute the protofilament

21 January 2018

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Transthyretin Ser6 as a neutral polymorphism in familial amyloidotic polyneuropathy

21 January 2018

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Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser

21 January 2018

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A new amyloidogenic transthyretin variant, [D38A], detected by electrospray ionization / mass spectrometry

21 January 2018

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Familial amyloidotic polyneuropathy. TTR Met 30 in Majorca (Spain)

21 January 2018

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A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy

21 January 2018

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C for T substitution at codon 108: the first identified silent mutation in the transthyretin gene

21 January 2018

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Identification of a novel non-amyloidogenic transthyretin polymorphism (His 74) in the German population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

A new transthyretin variant (His 69) associated with vitreous amyloid in an FAP family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

Transthyretin Leu 68 in a form of cardiac amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

7 January 2021

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

7 January 2021

Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

7 January 2021

Comparative Studies of Two Transthyretin Variants with Protective Effects on Familial Amyloidotic Polyneuropathy: TTR R104H and TTR T119M

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7 January 2021

Potential treatment of transthyretin-type amyloidoses by sulfite

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7 January 2021

Screening and biochemical characterization of transthyretin variants in the Portuguese population

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7 January 2021

Strjcture of human plasma prealbumin at 2-5 A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding

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7 January 2021

A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family

1 reference

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7 January 2021

A yellow component associated with human transthyretin has properties like a pterin derivative, 7,8-dihydropterin-6-carboxaldehyde

1 reference

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7 January 2021

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

7 January 2021

Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1132

7 January 2021

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations

1 reference

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7 January 2021

A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy

1 reference

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7 January 2021

Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis

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Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent

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Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family

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New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online

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Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome

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Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant

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7 January 2021

Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay

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Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin

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Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy

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Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

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Transthyretin regulates thyroid hormone levels in the choroid plexus, but not in the brain parenchyma: study in a transthyretin-null mouse model

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7 January 2021

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy

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7 January 2021

Search for intermediate structures in transthyretin fibrillogenesis: soluble tetrameric Tyr78Phe TTR expresses a specific epitope present only in amyloid fibrils

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Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

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A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker

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7 January 2021

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant

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7 January 2021

A new transthyretin variant--ATTR Arg104Cys

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7 January 2021

The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils

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A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis

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A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84

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Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis

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An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54

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7 January 2021

TTR exon scanning in peripheral neuropathies

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A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy

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7 January 2021

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

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7 January 2021

A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases

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7 January 2021

Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly)

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7 January 2021

Haplotype analysis of familial amyloidotic polyneuropathy

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7 January 2021

Identifiers

DOI

10.1002/HUMU.1132

1 reference

1 August 2017

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