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

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

(2016) Anas M. Alazami et al.   HUMAN GENETICS

Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis

(2016) Kazumasa Saigoh et al.   NEUROSCIENCE RESEARCH

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations

(2015) Andreas R. Janecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2015) Shuji Mizumoto et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

GlcUAβ1–3Galβ1–3Galβ1–4Xyl(2-O-phosphate) Is the Preferred Substrate for ChondroitinN-Acetylgalactosaminyltransferase-1

(2015) Tomomi Izumikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2015) Shuji Mizumoto et al.   Biomed Research International

XYLT1 Mutations in Desbuquois Dysplasia Type 2

(2014) Catherine Bui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family withB3GAT3mutation and expansion of the phenotype

(2014) Julia E. von Oettingen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

(2013) Fransiska Malfait et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Julia Schreml et al.   HUMAN GENETICS

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans

(2013) Shuji Mizumoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Kosei Takeuchi et al.   Nature Communications

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

(2012) Mathilde Nizon et al.   HUMAN MUTATION

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Yumi Watanabe et al.   BIOCHEMICAL JOURNAL

Chondroitin SulfateN-Acetylgalactosaminyltransferase 1 Is Necessary for Normal Endochondral Ossification and Aggrecan Metabolism

(2010) Takashi Sato et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

(2010) Kazumasa Saigoh et al.   JOURNAL OF HUMAN GENETICS

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS