Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects (Q24337891)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

case report

0 references

title

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

GOA release 2020-03-11

chondroitin sulfate proteoglycan biosynthetic process

1 reference

GOA release 2020-03-11

Spondylo-ocular syndrome

1 reference

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Frank Rauch

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1

Craig F Munns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Somayyeh Fahiminiya

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Nabin Poudel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Maria Cristina Munteanu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jacek Majewski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

David O Sillence

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jordan P Metcalf

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Francis Glorieux

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

François Fassier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Myron E Hinsdale

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

28 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

971-978

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

16 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Repetitive Ser-Gly Sequences Enhance Heparan Sulfate Assembly in Proteoglycans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

An introduction to proteoglycans and their localization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

The human nucleolar protein FTSJ3 associates with NIP7 and functions in pre-rRNA processing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Heparan sulfate proteoglycans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Differences in gene expression of human xylosyltransferases and determination of acceptor specificities for various proteoglycans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Biosynthesis of chondroitin and heparan sulfate in chinese hamster ovary cells depends on xylosyltransferase II.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Osteoporosis-pseudoglioma syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457947

Spondylo-ocular syndrome: a new entity involving the eye and spine

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26027496

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.04.017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

26027496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26027496%20AND%20SRC:MED&resulttype=core&format=json