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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

author

Shuji Mizumoto

Andreas Janecke

Nicholas Katsanis

2000 -

Erica E Davis

Julia Vodopiutz

Andrea Superti-Furga

1959 -

Sheila Unger

published in: Human Mutation

date of publication: 2019-12-03

language: English

Cites articles 41

Date

Title

Authors

2019-07-17

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia
2018-11-20

Craniofacial abnormality with skeletal dysplasia in mice lacking chondroitin sulfate N-acetylgalactosaminyltransferase-1

Toshiya Sato, Hayato Ohshima, Kosei Takeuchi
2018-03-29

Perspectives on Glycosylation and Its Congenital Disorders
2018-08-20

Increased Synthesis of Chondroitin Sulfate Proteoglycan Promotes Adult Hippocampal Neurogenesis in Response to Enriched Environment

Kosei Takeuchi, Shozo Jinno
2017-01-21

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Ingo Müller, Chela James, Hywel Williams, Davor Lessel, Sacha Ferdinandusse, Han G. Brunner
2017-04-27

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics

Sepp Hochreiter, Ludwine Messiaen
2017-12-29

Postnatal lethality and chondrodysplasia in mice lacking both chondroitin sulfate N-acetylgalactosaminyltransferase-1 and -2

Takashi Sato, Hisashi Narimatsu, Takashi Kudo, Katsue Kiyohara, Kozue Hagiwara, Koji Kimata, Hideto Watanabe, Hiromasa Wakui, Sayaka Fuseya, Miki Shimbo, Risa Okada
2017-10-05

Abnormalities in perineuronal nets and behavior in mice lacking CSGalNAcT1, a key enzyme in chondroitin sulfate synthesis

Atsushi Tamada, Keizō Takao, Kosei Takeuchi, Michihiro Igarashi
2016-11-21

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Shuji Mizumoto, Emily G Farrow
2016-09-22

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

Julia Vodopiutz, Shuji Mizumoto, Andrea Superti-Furga, Sheila Unger
2015-01-07

GlcUAβ1-3Galβ1-3Galβ1-4Xyl(2-O-phosphate) is the preferred substrate for chondroitin N-acetylgalactosaminyltransferase-1.
2015-09-16

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

Marianne Rohrbach, Herbert M Geller, Cecilia Giunta
2015-06-29

Identification of cis-suppression of human disease mutations by comparative genomics

Daniel M. Jordan, Christelle Golzio
2015-07-09

Molecular interactions between chondroitin-dermatan sulfate and growth factors/receptors/matrix proteins

Shuji Mizumoto
2015-10-25

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Shuji Mizumoto
2015-07-29

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

Ada Hamosh
2014-02-27

XYLT1 mutations in Desbuquois dysplasia type 2.

Valérie Cormier-Daire, Christine Bôle-Feysot, Patrick Nitschké, Geert Mortier, Celine Huber, Arnold Munnich, Yasemin Alanay, Beyhan Tuysuz
2014-04-24

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations

Ola Nilsson
2013-05-09

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

Anne De Paepe, Fransiska Malfait, Sylvie Fournel-Gigleux
2013-05-09

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

Andrea Superti-Furga, Andrew Howard, Roberto Mendoza-Londono, Yoshinori Tsurusaki, Hirotomo Saitsu, Shuji Mizumoto, Sheila Unger, Reiko Horikawa
2013-08-27

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

Peter Nürnberg, Filippo Beleggia
2013-01-01

Chondroitin sulphate N-acetylgalactosaminyl-transferase-1 inhibits recovery from neural injury

Hideyuki Okano, Shinji Miyata, Kosei Takeuchi
2011-07-15

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Peter Nürnberg, Gudrun Nürnberg, Stefan Mundlos, Sigmar Stricker, Lihadh Al-Gazali, Vincent Cantagrel, Delphine Gomez, Bassam R. Ali, Dominik Seelow, Joseph G Gleeson, Christian Becker, Björn Fischer-Zirnsak, Denise Horn, Sevjidmaa Baasanjav
2011-07-25

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

John L Jefferies, Donna Muzny
2011-02-18

Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism

Takashi Sato, Akira Togayachi, Masatsugu Ema, Yuzuru Ikehara, Hisashi Narimatsu, Katsue Kiyohara, Kozue Hagiwara, Koji Kimata, Hideto Watanabe
2011-05-05

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Andrea Superti-Furga, Hanka Venselaar, Christian Gilissen, Joris A Veltman, Sheila Unger, Han G. Brunner, Lisenka Vissers, Bernhard Zabel, Luisa Bonafé
2010-02-04

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans

Patrik Onnerfjord, Stefan Lohmander
2010-10-01

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features

Roberto Mendoza-Londono, Emma Wakeling, Stephen Robertson, Sheila Unger, Andrea Superti-Furga
2010-11-01

Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development

Kosei Takeuchi, Shirō Ikegawa, Tatsuya Furuichi
2009-12-01

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

Andreas Janecke, Julia Vodopiutz, Munis Dündar
2009-10-22

Identification of CANT1 mutations in Desbuquois dysplasia

Valérie Cormier-Daire, Martine Le Merrer, Andrea Superti-Furga, Mounia Chami, Stephen Robertson, Geert Mortier, Carine Le Goff, Celine Huber, Andrea Onetti Muda, Pierre Bitoun, Arnold Munnich
2009-07-15

Fast and accurate short read alignment with Burrows-Wheeler transform

Richard M. Durbin, Heng Li

Article - wd:Q91203992

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