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

Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning

(2012) Deanna G. Wilson et al.   DEVELOPMENTAL BIOLOGY

PAPSS2mutations cause autosomal recessive brachyolmia

(2012) Noriko Miyake et al.   JOURNAL OF MEDICAL GENETICS

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

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

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

(2010) Jing Tian 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

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation ofDSELas a candidate gene for the diaphragmatic defect

(2010) Hatem Zayed 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

Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome

(2010) Sophie Rahuel-Clermont et al.   BIOCHEMICAL JOURNAL

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins

(2010) Munis Dundar et al.   CLINICAL GENETICS

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS)

(2010) Catherine Bui et al.   FEBS LETTERS

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

(2010) Fransiska Malfait et al.   HUMAN MUTATION

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

(2010) Noriko Miyake et al.   HUMAN MUTATION

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

Genome-wide association study of recurrent early-onset major depressive disorder

(2010) J Shi et al.   MOLECULAR PSYCHIATRY

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

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

FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan–protein linkage region

(2009) Toshiyasu Koike et al.   BIOCHEMICAL JOURNAL

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation inCHST3

(2009) B Tuysuz et al.   CLINICAL GENETICS

Two Dermatan Sulfate Epimerases Form Iduronic Acid Domains in Dermatan Sulfate

(2009) Benny Pacheco et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

InactivatingPAPSS2Mutations in a Patient with Premature Pubarche

(2009) Cees Noordam et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

(2008) Pia Hermanns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

(2008) Mirjam H.H. van Roij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Chondroitin Sulfate Glucuronyltransferase as Chondroitin Synthase-3 Involved in Chondroitin Polymerization

(2008) Tomomi Izumikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sulfation of the Galactose Residues in the Glycosaminoglycan-Protein Linkage Region by Recombinant Human Chondroitin 6-O-Sulfotransferase-1

(2008) Hiroshi Kitagawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation

(2008) J. Presto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA