(Q24338764)

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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21280149%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21280149%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

extracellular matrix

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1 reference

GOA release 2020-03-11

bone development

1 reference

GOA release 2020-03-11

Dyggve–Melchior–Clausen syndrome

1 reference

based on heuristic

inferred from title

Laura Southgate

3

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21 January 2020

5

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21 January 2020

Richard C Trembath

6

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21 January 2020

7

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21 January 2020

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Celine Denais

1

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21 January 2020

Carolyn L Dent

2

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21 January 2020

Jacqueline Hoyle

4

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21 January 2020

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1 February 2011

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21 January 2020

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21 January 2020

32

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21 January 2020

2

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21 January 2020

231-239

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21 January 2020

Endosomal trafficking and proprotein convertase cleavage of cis Golgi protein GP73 produces marker for hepatocellular carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Dyggve-Melchior-Clausen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Severe osteogenesis imperfecta in cyclophilin B-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

1 reference

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21 January 2018

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

1 reference

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Stages of embryonic development of the zebrafish

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Furin: a mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins

1 reference

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Matrix remodeling during endochondral ossification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

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Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Human cyclophilin B: a second cyclophilin gene encodes a peptidyl-prolyl isomerase with a signal sequence

1 reference

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21 January 2018

Building bone tissue: matrices and scaffolds in physiology and biotechnology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Precursor processing by kex2/furin proteases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

A role for the vesicle tethering protein, p115, in the post-mitotic stacking of reassembling Golgi cisternae in a cell-free system.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

GRASP55, a second mammalian GRASP protein involved in the stacking of Golgi cisternae in a cell-free system.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Evidence against apoptosis as a major mechanism for reproductive cell death following treatment of cell lines with anti-cancer drugs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Dyggve-Melchior-Clausen syndrome: Genetic studies and report of affected sibs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

PPIB mutations cause severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

A direct role for GRASP65 as a mitotically regulated Golgi stacking factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

21 January 2018

Whole-mount in situ hybridizations on zebrafish embryos using a mixture of digoxigenin- and fluorescein-labelled probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

7 January 2021

based on heuristic

inferred from DOI database lookup

The Dyggve-Melchior-Clausen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

7 January 2021

based on heuristic

inferred from DOI database lookup

Birth prevalence rates of skeletal dysplasias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

7 January 2021

based on heuristic

inferred from DOI database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21413

7 January 2021

based on heuristic

inferred from DOI database lookup

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