(Q36909257)

17 August 2017

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

1 reference

17 August 2017

1 reference

27

Andrea Superti-Furga

0 references

Andrew Howard

17

Andrew Howard

1 reference

17 August 2017

Roberto Mendoza-Londono

Roberto Mendoza-Londono

14

0 references

Yoshinori Tsurusaki

Yoshinori Tsurusaki

20

0 references

Hirotomo Saitsu

Hirotomo Saitsu

21

0 references

Shuji Mizumoto

Shuji Mizumoto

2

0 references

Sheila Unger

Sheila Unger

24

0 references

Reiko Horikawa

12

Reiko Horikawa

1 reference

17 August 2017

25

Luisa Bonafé

1 reference

17 August 2017

30

Gen Nishimura

1 reference

17 August 2017

31

Shiro Ikegawa

1 reference

17 August 2017

23

Ekkehart Lausch

1 reference

17 August 2017

3

Noriko Miyake

1 reference

17 August 2017

5

Aritoshi Iida

1 reference

17 August 2017

Masahiro Nakajima

1

1 reference

17 August 2017

Ryo Kogawa

4

1 reference

17 August 2017

Hironori Ito

6

1 reference

17 August 2017

Hiroshi Kitoh

7

1 reference

17 August 2017

Aya Hirayama

8

1 reference

17 August 2017

Hiroshi Mitsubuchi

9

1 reference

17 August 2017

Osamu Miyazaki

10

1 reference

17 August 2017

Rika Kosaki

11

1 reference

17 August 2017

Angeline Lai

13

1 reference

17 August 2017

Lucie Dupuis

15

1 reference

17 August 2017

David Chitayat

16

1 reference

17 August 2017

Gabriela F Leal

18

1 reference

17 August 2017

Denise Cavalcanti

19

1 reference

17 August 2017

Shigehiko Watanabe

22

1 reference

17 August 2017

Hirofumi Ohashi

26

1 reference

17 August 2017

Naomichi Matsumoto

28

1 reference

17 August 2017

Kazuyuki Sugahara

29

1 reference

17 August 2017

language of work or name

English

0 references

publication date

9 May 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

92

1 reference

17 August 2017

6

1 reference

17 August 2017

927-934

1 reference

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Comprehensive enzymatic characterization of glycosyltransferases with a beta3GT or beta4GT motif

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

PAPSS2 mutations cause autosomal recessive brachyolmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Nosology and classification of genetic skeletal disorders: 2010 revision.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675233

A distinct subtype of "metatropic dysplasia variant" characterised by advanced carpal skeletal age and subluxation of the radial heads

4 September 2018

1 reference

12 December 2020

Microanalysis of glycosaminoglycan-derived oligosaccharides labeled with a fluorophore 2-aminobenzamide by high-performance liquid chromatography: application to disaccharide composition analysis and exosequencing of oligosaccharides

1 reference

12 December 2020

Glycosaminoglycan chain analysis and characterization (glycosylation/epimerization)

1 reference

12 December 2020

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

1 reference

12 December 2020

10.1016/J.AJHG.2013.04.003

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

1 reference