相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
Craig F. Munns et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
Kelly L. Jones et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
IC3D Classification of Corneal Dystrophies-Edition 2
Jayne S. Weiss et al.
CORNEA (2015)
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
Birgit S. Budde et al.
HUMAN GENETICS (2015)
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
Delfien Syx et al.
HUMAN MUTATION (2015)
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
Haoyue Zhang et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
Francois Cartault et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
XYLT1 Mutations in Desbuquois Dysplasia Type 2
Catherine Bui et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype
Julia E. von Oettingen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Hyaluronan: Biosynthesis and signaling
Davide Vigetti et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2014)
A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
Elizabeth A. Sellars et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2014)
Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan
Shuji Mizumoto et al.
BIOMED RESEARCH INTERNATIONAL (2014)
Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses
Shunji Tomatsu et al.
METABOLITES (2014)
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
Masahiro Nakajima et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Fransiska Malfait et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Biosynthesis and function of chondroitin sulfate
Tadahisa Mikami et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2013)
Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostoses
Julianne Huegel et al.
DEVELOPMENTAL DYNAMICS (2013)
Biological functions of iduronic acid in chondroitin/dermatan sulfate
Martin A. Thelin et al.
FEBS JOURNAL (2013)
Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application
Md Ferdous Anower-E-Khuda et al.
GLYCOBIOLOGY (2013)
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural EhlersDanlos syndrome
Thomas Mueller et al.
HUMAN MOLECULAR GENETICS (2013)
Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans
Shuji Mizumoto et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Toward an understanding of the short bone phenotype associated with multiple osteochondromas
Kevin B. Jones et al.
JOURNAL OF ORTHOPAEDIC RESEARCH (2013)
High-molecular-mass hyaluronan mediates the cancer resistance of the naked mole rat
Xiao Tian et al.
NATURE (2013)
IMPAD1 Mutations in Two Catel-Manzke Like Patients
Mathilde Nizon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Chondroitin sulfate: A key molecule in the brain matrix
J. C. F. Kwok et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2012)
Uncovering Biphasic Catalytic Mode of C5-epimerase in Heparan Sulfate Biosynthesis
Juzheng Sheng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Iduronic Acid in Chondroitin/Dermatan Sulfate: Biosynthesis and Biological Function
Anders Malmstrom et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2012)
PAPSS2 mutations cause autosomal recessive brachyolmia
Noriko Miyake et al.
JOURNAL OF MEDICAL GENETICS (2012)
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
Lisenka E. L. M. Vissers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Sevjidmaa Baasanjav et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies
Kazumasa Saigoh et al.
JOURNAL OF HUMAN GENETICS (2011)
Genome-wide association study of recurrent early-onset major depressive disorder
J. Shi et al.
MOLECULAR PSYCHIATRY (2011)
Heparan Sulfate Proteoglycans
Stephane Sarrazin et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
Yun Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling
Jing Tian et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features
Sheila Unger et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
A Maternally Inherited Chromosome 18q22.1 Deletion in a Male With Late-Presenting Diaphragmatic Hernia and Microphthalmia-Evaluation of DSEL as a Candidate Gene for the Diaphragmatic Defect
Hatem Zayed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Hyaluronan Deficiency in Tumor Stroma Impairs Macrophage Trafficking and Tumor Neovascularization
Nobutaka Kobayashi et al.
CANCER RESEARCH (2010)
Proteoglycans: from structural compounds to signaling molecules
Liliana Schaefer et al.
CELL AND TISSUE RESEARCH (2010)
Structural and biochemical aspects of keratan sulphate in the cornea
Andrew J. Quantock et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2010)
Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome
Noriko Miyake et al.
HUMAN MUTATION (2010)
Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome
Munis Duendar et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
B. Tuysuz et al.
CLINICAL GENETICS (2009)
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
T. Furuichi et al.
JOURNAL OF MEDICAL GENETICS (2009)
Inactivating PAPSS2 Mutations in a Patient with Premature Pubarche
Cees Noordam et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases (2009)
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
Pia Hermanns et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype
Mirjam H. H. van Roij et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Heparan sulphate biosynthesis and disease
Satomi Nadanaka et al.
JOURNAL OF BIOCHEMISTRY (2008)
A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation
Joshua P. Frederick et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
Shuichi Hiraoka et al.
NATURE MEDICINE (2007)
Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry
Toshihiro Oguma et al.
ANALYTICAL BIOCHEMISTRY (2007)
Genome-wide scan of bipolar II disorder
Evaristus A. Nwulia et al.
BIPOLAR DISORDERS (2007)
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)
Daniela G. Seidler et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q
MB McQueen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
H Thiele et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
The many faces of filamin: A versatile molecular scaffold for cell motility and signalling
YY Feng et al.
NATURE CELL BIOLOGY (2004)
Spondyloepiphyseal dysplasia Omani type: A new recessive type of SED with progressive spinal involvement
A Rajab et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate
K Sugahara et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)
Developmental regulation of the growth plate
HM Kronenberg
NATURE (2003)
A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder
D Goossens et al.
MOLECULAR PSYCHIATRY (2003)
Core protein dependence of epimerization of glucuronosyl residues in galactosaminoglycans
DG Seidler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Mammalian hyaluronan synthases
N Itano et al.
IUBMB LIFE (2002)
Keratan sulfate biosynthesis
JL Funderburgh
IUBMB LIFE (2002)
Dermatan sulfate: new functions from an old glycosaminoglycan
JM Trowbridge et al.
GLYCOBIOLOGY (2002)
Heparin and heparan sulfate: structure and function
DL Rabenstein
NATURAL PRODUCT REPORTS (2002)
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida et al.
DEVELOPMENTAL CELL (2001)
Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy
AH Plaas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Heparan sulfate:: lessons from knockout mice
E Forsberg et al.
JOURNAL OF CLINICAL INVESTIGATION (2001)
Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans
K Sugahara et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2000)
Keratan sulfate: structure, biosynthesis, and function
JL Funderburgh
GLYCOBIOLOGY (2000)
Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme
TD Camenisch et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
分享论文
