Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. (Q37164274)

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1 March 2020

title

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations (English)

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Sergey Leikin

10

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Andrzej Fertala

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author name string

Geraldine Duncan

2

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Maryann Weis

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William Paton

4

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Wayne A Cabral

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Edward L Mertz

6

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Elena Makareeva

7

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Michael J Gambello

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Felicitas L Lacbawan

9

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David R Eyre

12

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Sherri J Bale

13

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Joan C Marini

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publication date

8 July 2013

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number of pages

10

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inferred from page(s)

published in

Human Mutation

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volume

34

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issue

9

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1 March 2020

page(s)

1279-1288

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

1 March 2020

cites work

1 reference

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Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

6 September 2017

1 reference

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Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

6 September 2017

1 reference

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

6 September 2017

1 reference

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Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

6 September 2017

1 reference

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

6 September 2017

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Carcinomas contain a matrix metalloproteinase-resistant isoform of type I collagen exerting selective support to invasion

6 September 2017

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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

6 September 2017

1 reference

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The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

6 September 2017

1 reference

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Developmental regulation and coordinate reexpression of FKBP65 with extracellular matrix proteins after lung injury suggest a specialized function for this endoplasmic reticulum immunophilin

6 September 2017

1 reference

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Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein

6 September 2017

1 reference

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Identification of tropoelastin as a ligand for the 65-kD FK506-binding protein, FKBP65, in the secretory pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3770534

Assembly in vitro of thin and thick fibrils of collagen II from recombinant procollagen II. The monomers in the tips of thick fibrils have the opposite orientation from monomers in the growing tips of collagen I fibrils

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3770534

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

29 September 2017

1 reference

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Coalignment of plasma membrane channels and protrusions (fibripositors) specifies the parallelism of tendon

27 June 2018

1 reference

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Reduced concentration of collagen reducible cross links in human trabecular bone with respect to age and osteoporosis.

27 June 2018

1 reference

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Reduced concentrations of collagen cross-links are associated with reduced strength of bone.

27 June 2018

1 reference

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

27 June 2018

1 reference

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A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

3 September 2018

1 reference

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Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

3 September 2018

1 reference

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Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

3 September 2018

1 reference

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Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomerases, is only partially inhibited by FK506.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3770534

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3770534

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

3 September 2018

1 reference

12 December 2020

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

1 reference

12 December 2020

Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo.

1 reference

12 December 2020

The unusual skeletal findings of the Kuskokwim syndrome

1 reference

12 December 2020

Biochemical changes in the collagen of human osteoporotic bone matrix

1 reference

12 December 2020

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

1 reference

12 December 2020

Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23712425%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

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1 March 2020

PubMed publication ID

23712425

1 reference