Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism (Q80728002)

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3 January 2020

title

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism (English)

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3 January 2020

main subject

proximal symphalangism

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1 reference

Wei Yang

1

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3 January 2020

Lihua Cao

2

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3 January 2020

Wenli Liu

3

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3 January 2020

Li Jiang

4

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3 January 2020

Miao Sun

5

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3 January 2020

Dai Zhang

6

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3 January 2020

Shusen Wang

7

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3 January 2020

Wilson H Y Lo

8

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Yang Luo

9

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3 January 2020

Xue Zhang

10

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publication date

19 February 2008

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Journal of Human Genetics

3 January 2020

published in

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volume

53

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issue

4

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page(s)

368-374

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Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development

3 January 2020

cites work

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12 December 2020

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

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12 December 2020

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

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12 December 2020

Complex flexibility of the transforming growth factor beta superfamily

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12 December 2020

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

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12 December 2020

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

12 December 2020

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

1 reference

12 December 2020

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

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12 December 2020

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

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12 December 2020

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

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12 December 2020

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

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12 December 2020

The mutational spectrum of brachydactyly type C

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12 December 2020

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

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12 December 2020

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

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12 December 2020

Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22

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12 December 2020

GDF5 coordinates bone and joint formation during digit development

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12 December 2020

Cartilage-derived morphogenetic protein-1

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12 December 2020

[Ser77]transforming growth factor-beta 1. Selective biological activity and receptor binding in mink lung epithelial cells.

1 reference

12 December 2020

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

1 reference

12 December 2020

GDF5 is a second locus for multiple-synostosis syndrome.

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12 December 2020

Three-dimensional structure of recombinant human osteogenic protein 1: structural paradigm for the transforming growth factor beta superfamily

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12 December 2020

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis

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12 December 2020

Site-directed mutagenesis of glycosylation sites in the transforming growth factor-beta 1 (TGF beta 1) and TGF beta 2 (414) precursors and of cysteine residues within mature TGF beta 1: effects on secretion and bioactivity

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12 December 2020

10.1007/S10038-008-0253-7

Identifiers

DOI

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3 January 2020

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