Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

(2015) Craig F. Munns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

IC3D Classification of Corneal Dystrophies—Edition 2

(2015) Jayne S. Weiss et al.   CORNEA

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

(2015) Birgit S. Budde et al.   HUMAN GENETICS

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

(2015) Delfien Syx et al.   HUMAN MUTATION

A straightforward, quantitative ultra-performance liquid chromatography‐tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses

(2015) Haoyue Zhang et al.   MOLECULAR GENETICS AND METABOLISM

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

Hyaluronan: Biosynthesis and signaling

(2014) Davide Vigetti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea

(2014) Elizabeth A. Sellars et al.   Seminars in Pediatric Neurology

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

(2014) Shuji Mizumoto et al.   Biomed Research International

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

Biosynthesis and function of chondroitin sulfate

(2013) Tadahisa Mikami et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostoses

(2013) Julianne Huegel et al.   DEVELOPMENTAL DYNAMICS

Biological functions of iduronic acid in chondroitin/dermatan sulfate

(2013) Martin A. Thelin et al.   FEBS Journal

Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application

(2013) Md. Ferdous Anower-E-Khuda et al.   GLYCOBIOLOGY

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

(2013) Thomas Müller et al.   HUMAN MOLECULAR GENETICS

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

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

High-molecular-mass hyaluronan mediates the cancer resistance of the naked mole rat

(2013) Xiao Tian et al.   NATURE

IMPAD1mutations in two Catel-Manzke like patients

(2012) Mathilde Nizon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chondroitin sulfate: A key molecule in the brain matrix

(2012) J.C.F. Kwok et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Uncovering Biphasic Catalytic Mode of C5-epimerase in Heparan Sulfate Biosynthesis

(2012) Juzheng Sheng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Iduronic Acid in Chondroitin/Dermatan Sulfate

(2012) Anders Malmström et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

PAPSS2mutations cause autosomal recessive brachyolmia

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

Toward an understanding of the short bone phenotype associated with multiple osteochondromas

(2012) Kevin B. Jones et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

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

Heparan Sulfate Proteoglycans

(2011) S. Sarrazin et al.   Cold Spring Harbor Perspectives in Biology

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

Hyaluronan Deficiency in Tumor Stroma Impairs Macrophage Trafficking and Tumor Neovascularization

(2010) N. Kobayashi et al.   CANCER RESEARCH

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

(2010) Noriko Miyake et al.   HUMAN MUTATION

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

Proteoglycans: from structural compounds to signaling molecules

(2009) Liliana Schaefer et al.   CELL AND TISSUE RESEARCH

Structural and biochemical aspects of keratan sulphate in the cornea

(2009) Andrew J. Quantock et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2009) B Tuysuz et al.   CLINICAL GENETICS

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

InactivatingPAPSS2Mutations in a Patient with Premature Pubarche

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

Corneal dystrophies

(2009) Gordon K Klintworth   Orphanet Journal of Rare Diseases

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

Heparan Sulphate Biosynthesis and Disease

(2008) Satomi Nadanaka et al.   JOURNAL OF BIOCHEMISTRY

A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation

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