Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

[1]  H. Kitagawa,et al.  Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies , 2011, Journal of Human Genetics.

[2]  R. Hegele,et al.  Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. , 2010, American journal of human genetics.

[3]  B. Merriman,et al.  Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. , 2010, American journal of human genetics.

[4]  S. Nampoothiri,et al.  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, Human mutation.

[5]  Christina K. Chan,et al.  Differentiation of cardiomyocytes from human embryonic stem cells is accompanied by changes in the extracellular matrix production of versican and hyaluronan , 2010, Journal of cellular biochemistry.

[6]  D. Sillence,et al.  Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features , 2010, American journal of medical genetics. Part A.

[7]  Y. Fukushima,et al.  Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome , 2010, Human mutation.

[8]  H. Kitagawa,et al.  Impairment of Embryonic Cell Division and Glycosaminoglycan Biosynthesis in Glucuronyltransferase-I-deficient Mice* , 2010, The Journal of Biological Chemistry.

[9]  G. Utermann,et al.  Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. , 2009, American journal of human genetics.

[10]  J. Filmus,et al.  Overgrowth of a mouse model of Simpson– Golabi–Behmel syndrome is partly mediated by Indian Hedgehog , 2009, EMBO reports.

[11]  B. Keavney,et al.  Fresh fields and pathways new: recent genetic insights into cardiac malformation , 2009, Heart.

[12]  S. Robertson,et al.  Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype , 2008, American journal of medical genetics. Part A.

[13]  H. Kitagawa,et al.  2-O-Phosphorylation of Xylose and 6-O-Sulfation of Galactose in the Protein Linkage Region of Glycosaminoglycans Influence the Glucuronyltransferase-I Activity Involved in the Linkage Region Synthesis* , 2008, Journal of Biological Chemistry.

[14]  L. Sangiorgi,et al.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. , 2008, American journal of human genetics.

[15]  B. Bruneau.  The developmental genetics of congenital heart disease , 2008, Nature.

[16]  T. Mikami,et al.  Chondroitin/dermatan sulfate in the central nervous system. , 2007, Current opinion in structural biology.

[17]  A. Rabie,et al.  VEGF: an Essential Mediator of Both Angiogenesis and Endochondral Ossification , 2007, Journal of dental research.

[18]  Jeffrey D. Esko,et al.  Heparan sulphate proteoglycans fine-tune mammalian physiology , 2007, Nature.

[19]  P. Berninsone.  Carbohydrates and glycosylation. , 2006, WormBook : the online review of C. elegans biology.

[20]  Robert E. Kearney,et al.  Quantitative Proteomics Analysis of the Secretory Pathway , 2006, Cell.

[21]  H. Kitagawa,et al.  C. elegans pharyngeal morphogenesis requires both de novo synthesis of pyrimidines and synthesis of heparan sulfate proteoglycans. , 2006, Developmental biology.

[22]  S. Stringer.  The role of heparan sulphate proteoglycans in angiogenesis. , 2006, Biochemical Society transactions.

[23]  D. Srivastava,et al.  Mutations in NOTCH1 cause aortic valve disease , 2005, Nature.

[24]  Tom H. Lindner,et al.  easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data , 2005, Bioinform..

[25]  N. Perrimon,et al.  Developmental cell biology: Heparan sulphate proteoglycans: the sweet side of development , 2005, Nature Reviews Molecular Cell Biology.

[26]  Tom H. Lindner,et al.  easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses , 2005, Bioinform..

[27]  S. Mundlos,et al.  Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[28]  L. Tsui,et al.  A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type , 2004, American journal of medical genetics. Part A.

[29]  J. Esko,et al.  Temperature-sensitive Glycosaminoglycan Biosynthesis in a Chinese Hamster Ovary Cell Mutant Containing a Point Mutation in Glucuronyltransferase I* , 2004, Journal of Biological Chemistry.

[30]  J. Lowe,et al.  Role of glycosylation in development. , 2003, Annual review of biochemistry.

[31]  H. Kitagawa,et al.  Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate. , 2003, Current opinion in structural biology.

[32]  T. Darden,et al.  Glucosaminylglycan biosynthesis: what we can learn from the X-ray crystal structures of glycosyltransferases GlcAT1 and EXTL2. , 2003, Biochemical and biophysical research communications.

[33]  D. E. Olins,et al.  Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly) , 2002, Nature Genetics.

[34]  J. Magdalou,et al.  The Donor Substrate Specificity of the Human β1,3-Glucuronosyltransferase I toward UDP-Glucuronic Acid Is Determined by Two Crucial Histidine and Arginine Residues* , 2002, The Journal of Biological Chemistry.

[35]  T. Hennet,et al.  Biosynthesis of the Linkage Region of Glycosaminoglycans , 2001, The Journal of Biological Chemistry.

[36]  G. Strecker,et al.  The nematode Caenorhabditis elegans synthesizes unusual O-linked glycans: identification of glucose-substituted mucin-type O-glycans and short chondroitin-like oligosaccharides. , 2001, The Biochemical journal.

[37]  J. Magdalou,et al.  Importance of histidine residues for the function of the human liver UDP-glucuronosyltransferase UGT1A6: evidence for the catalytic role of histidine 370. , 2000, Molecular pharmacology.

[38]  T. Darden,et al.  Heparan/Chondroitin Sulfate Biosynthesis , 2000, The Journal of Biological Chemistry.

[39]  H. Kitagawa,et al.  Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans. , 2000, Current opinion in structural biology.

[40]  S. Selleck,et al.  sqv-3, -7, and -8, a set of genes affecting morphogenesis in Caenorhabditis elegans, encode enzymes required for glycosaminoglycan biosynthesis. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[41]  K. Prydz,et al.  Synthesis and sorting of proteoglycans. , 2000, Journal of cell science.

[42]  H. Kitagawa,et al.  Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan‐protein linkage region of proteoglycans , 1999, FEBS letters.

[43]  Kazuro Furukawa,et al.  Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome , 1999, The Journal of Biological Chemistry.

[44]  H. Kitagawa,et al.  Molecular Cloning and Expression of Glucuronyltransferase I Involved in the Biosynthesis of the Glycosaminoglycan-Protein Linkage Region of Proteoglycans* , 1998, The Journal of Biological Chemistry.

[45]  D. Schlessinger,et al.  Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome , 1996, Nature Genetics.

[46]  E. Quentin,et al.  Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. , 1987, American journal of human genetics.