Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta (Q35221699)

7 August 2017

0 references

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta (English)

1 reference

7 August 2017

main subject

osteogenesis imperfecta

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Jinoh Kim

20

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Oliver Semler

Oliver Semler

18

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David J Amor

David Amor

11

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Stefan Bohlander

Stefan K Bohlander

19

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Bernd Wollnik

17

Bernd Wollnik

1 reference

7 August 2017

Filippo Beleggia

5

0 references

Ravi Savarirayan

10

Ravi Savarirayan

1 reference

7 August 2017

Lutz Garbes

1

1 reference

7 August 2017

Kyungho Kim

2

1 reference

7 August 2017

Angelika Rieß

3

1 reference

7 August 2017

Heike Hoyer-Kuhn

4

1 reference

7 August 2017

Andrea Bevot

6

1 reference

7 August 2017

Mi Jeong Kim

7

1 reference

7 August 2017

Yang Hoon Huh

8

1 reference

7 August 2017

Hee-Seok Kweon

9

1 reference

7 August 2017

Purvi M Kakadia

12

1 reference

7 August 2017

Tobias Lindig

13

1 reference

7 August 2017

Karl Oliver Kagan

14

1 reference

7 August 2017

Jutta Becker

15

1 reference

7 August 2017

Simeon A Boyadjiev

16

1 reference

7 August 2017

Christian Netzer

21

1 reference

7 August 2017

language of work or name

English

0 references

publication date

12 February 2015

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

96

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7 August 2017

issue

3

1 reference

7 August 2017

page(s)

432-439

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Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

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=4375534

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

COPII - a flexible vesicle formation system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Disruption of the Sec24d gene results in early embryonic lethality in the mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Recessively inherited forms of osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

COPII and the regulation of protein sorting in mammals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

New perspectives on osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Structural basis of cargo membrane protein discrimination by the human COPII coat machinery

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

27 July 2018

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

New case of Cole-Carpenter syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Anomalous parietal sutures and the bipartite parietal bone

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Exiting the ER: what we know and what we don't

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Nosology and classification of genetic skeletal disorders: 2010 revision.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

sec24d encoding a component of COPII is essential for vertebra formation, revealed by the analysis of the medaka mutant, vbi.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Procollagen trafficking, processing and fibrillogenesis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375534

Cole-Carpenter's syndrome

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25683121

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.01.002

1 reference

release_ejmcykb5ujdhdhx555nodhh6p4

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ejmcykb5ujdhdhx555nodhh6p4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4375534

1 reference

7 August 2017

1 reference