(Q35198180)

7 August 2017

A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology (English)

1 reference

wild-type transthyretin amyloid

7 August 2017

1 reference

1 reference

1 reference

D R Jacobson

1

1 reference

7 August 2017

P D Gorevic

series ordinal

2

1 reference

7 August 2017

J N Buxbaum

series ordinal

3

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 July 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

47

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7 August 2017

1

1 reference

7 August 2017

127-136

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Senile systemic amyloidosis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

The interaction of human plasma retinol-binding protein and prealbumin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Relationship of amyloid to aging. Review of the literature and systematic study of 83 patients derived rom a general hospital population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Structure of the chromosomal gene for human serum prealbumin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Senile cardiac amyloidosis with myocardial dysfunction. Diagnosis by endomyocardial biopsy and immunohistochemistry.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Structure of the human prealbumin gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Negative cooperativity in the binding of thyroxine to human serum prealbumin. Preparation of tritium-labeled 8-anilino-1-naphthalenesulfonic acid

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

A general method for isolation of high molecular weight DNA from eukaryotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

The clinical significance of senile cardiac amyloidosis: a prospective clinico-pathological study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Type and distribution of pulmonary parenchymal and vascular amyloid. Correlation with cardiac amyloid

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Senile Cardiac Amyloidosis: Evidence of Two Different Amyloid Substances in the Ageing Heart

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Polymorphism of human plasma thyroxine binding prealbumin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683748

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

26 September 2018

1 reference

12 December 2020

Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin

1 reference

12 December 2020

Familial primary amyloidosis with severe amyloid heart disease

1 reference

12 December 2020

A rapid and efficient procedure for the purification of DNA from agarose gels

1 reference

12 December 2020

Senile cardiac amyloid is related to prealbumin

1 reference

12 December 2020

Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation

1 reference

12 December 2020

Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)

1 reference

12 December 2020

Clinical significance of histopathologic patterns of cardiac amyloidosis

1 reference

12 December 2020

Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid

1 reference

12 December 2020

Prealbumin. A major constituent of vitreous amyloid

1 reference

12 December 2020

Restriction fragment length polymorphism analysis of mutated transthyretin in vitreous amyloidosis

1 reference

12 December 2020

Pathology of the senescent heart: anatomic observations on 237 autopsy studies of patients 90 to 105 years old

1 reference

12 December 2020

Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy

1 reference

12 December 2020

Identifiers

PMCID

1683748

1 reference

7 August 2017

1 reference