(Q35196805)

7 August 2017

title

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families (English)

1 reference

7 August 2017

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Hiltunen T

1

1 reference

7 August 2017

Kiuru S

2

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7 August 2017

Hongell V

3

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7 August 2017

Heliö T

4

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7 August 2017

Palo J

5

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7 August 2017

Peltonen L

6

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7 August 2017

language of work or name

English

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publication date

1 September 1991

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

49

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7 August 2017

issue

3

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7 August 2017

page(s)

522-528

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish 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=1683143

Blot hybridisation analysis of genomic DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Hereditary diseases in Finland; rare flora in rare soul

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Reversal of bacteriophage T4 induced polynucleotide kinase action.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

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=1683143

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

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=1683143

Variant apolipoprotein AI as a major constituent of a human hereditary 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=1683143

Nonmuscle actin-binding proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

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=1683143

A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Localization of gelsolin proximal to ABL on chromosome 9

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Mutation in gelsolin gene in Finnish 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=1683143

Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the 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=1683143

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Strategies for multilocus linkage analysis in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683143

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein

26 September 2018

1 reference

12 December 2020

Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline

1 reference

12 December 2020

Three forms of dominant amyloid neuropathy

1 reference

12 December 2020

Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin

1 reference

12 December 2020

Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary amyloidosis

1 reference

12 December 2020

Modulation of gelsolin function by phosphatidylinositol 4,5-bisphosphate

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

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

1 reference

12 December 2020

Control of cytoplasmic actin gel–sol transformation by gelsolin, a calcium-dependent regulatory protein

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

PMC publication ID

1683143

1 reference

7 August 2017

1 reference