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。Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Matthias Baumann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation
N. C. Voermans et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene
Roberto Mendoza-Londono et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Dermatan Sulfate Is Involved in the Tumorigenic Properties of Esophagus Squamous Cell Carcinoma
Martin A. Thelin et al.
CANCER RESEARCH (2012)
The Ehlers-Danlos syndrome, a disorder with many faces
A. De Paepe et al.
CLINICAL GENETICS (2012)
Mouse development is not obviously affected by the absence of dermatan sulfate epimerase 2 in spite of a modified brain dermatan sulfate composition
Barbara Bartolini et al.
GLYCOBIOLOGY (2012)
Chondroitin Sulfate Wobble Motifs Modulate Maintenance and Differentiation of Neural Stem Cells and Their Progeny
Anurag Purushothaman 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)
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Sevjidmaa Baasanjav et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients
Kenji Shimizu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Dermatan sulfate epimerase 2 is the predominant isozyme in the formation of the chondroitin sulfate/dermatan sulfate hybrid structure in postnatal developing mouse brain
Chizuru Akatsu et al.
GLYCOBIOLOGY (2011)
A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome. Which name is appropriate, Adducted Thumb-Clubfoot Syndrome or Ehlers-Danlos syndrome?
Tomoki Kosho et al.
HUMAN MUTATION (2011)
Loss of Dermatan-4-sulfotransferase 1 (D4ST1/CHST14) Function Represents the First Dermatan Sulfate Biosynthesis Defect, Dermatan Sulfate-Deficient Adducted Thumb-Clubfoot Syndrome''
Andreas R. Janecke et al.
HUMAN MUTATION (2011)
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins
Munis Dundar et al.
CLINICAL GENETICS (2010)
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
Fransiska Malfait et al.
HUMAN MUTATION (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)
Myopathy and Polyneuropathy in an Adolescent With the Kyphoscoliotic Type of Ehlers-Danlos Syndrome
N. C. Voermans et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Neuromuscular Involvement in Various Types of Ehlers-Danlos Syndrome
Nicol C. Voermans et al.
ANNALS OF NEUROLOGY (2009)
Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate
Benny Pacheco et al.
GLYCOBIOLOGY (2009)
Two Dermatan Sulfate Epimerases Form Iduronic Acid Domains in Dermatan Sulfate
Benny Pacheco et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Dermatan Sulfate Epimerase 1-Deficient Mice Have Reduced Content and Changed Distribution of Iduronic Acids in Dermatan Sulfate and an Altered Collagen Structure in Skin
Marco Maccarana et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)
N. C. Voermans et al.
NEUROMUSCULAR DISORDERS (2008)
Interactions of hepatocyte growth factor/scatter factor with various glycosaminoglycans reveal an important interplay between the presence of iduronate and sulfate density
Krista R. Catlow et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Chondroitin/dermatan sulfate in the central nervous system
Kazuyuki Sugahara et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2007)
Ehlers-Danios syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies
N. C. Voermans et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
The secreted serine protease xHtrA1 stimulates long-range FGF signaling in the early Xenopus embryo
Shirui Hou et al.
DEVELOPMENTAL CELL (2007)
Heparan sulphate proteoglycans fine-tune mammalian physiology
Joseph R. Bishop et al.
NATURE (2007)
Neuritogenic activity of chondroitin/dermatan sulfate hybrid chains of embryonic pig brain and their mimicry from shark liver - Involvement of the pleiotrophin and hepatocyte growth factor signaling pathways
Fuchuan Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A model of tenascin-X integration within the collagenous network
Claire Lethias et al.
FEBS LETTERS (2006)
Chondroitin sulfate/dermatan sulfate hybrid chains in the development of cerebellum - Spatiotemporal regulation of the expression of critical disulfated disaccharides by specific sulfotransferases
Chie Mitsunaga et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Biosynthesis of dermatan sulfate -: Chondroitin-glucuronate C5-epimerase is identical to SART2
M Maccarana et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Regulation of the chondroitin/dermatan fine structure by transforming growth factor-β1 through effects on polymer-modifying enzymes
K Tiedemann et al.
GLYCOBIOLOGY (2005)
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
T Kosho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Heparan sulphate proteoglycans:: The sweet side of development
U Häcker et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
BL Loeys et al.
NATURE GENETICS (2005)
Collagen VI related muscle disorders
AK Lampe et al.
JOURNAL OF MEDICAL GENETICS (2005)
Chondroitin sulfate/dermatan sulfate hybrid chains from embryonic pig brain, which contain a higher proportion of L-iduronic acid than those from adult pig brain, exhibit neuritogenic and growth factor binding activities
XF Bao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Antithrombotic activity of dermatan sulfate in heparin cofactor II-deficient mice
CP Vicente et al.
BLOOD (2004)
Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate
K Sugahara et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)
Sulfotransferases in glycosaminoglycan biosynthesis
M Kusche-Gullberg et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)
Essential role of glycosaminoglycans in Fgf signaling during mouse gastrulation
MJ García-García et al.
CELL (2003)
Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor -: Implication of differential roles in dermatan sulfate biosynthesis
T Mikami et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Elasticity in extracellular matrix 'shape modules' of tendon, cartilage, etc. A sliding proteoglycan-filament model
JE Scott
JOURNAL OF PHYSIOLOGY-LONDON (2003)
Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3 -: A novel member of the HNK-1 family of sulfotransferases
HG Kang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Dermatan sulfate: new functions from an old glycosaminoglycan
JM Trowbridge et al.
GLYCOBIOLOGY (2002)
A case with adducted thumb and club foot syndrome
M Dundar et al.
CLINICAL DYSMORPHOLOGY (2001)
Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase
MR Evers et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The catalytic activities of the bifunctional Azotobacter vinelandii mannuronan C-5-epimerase and alginate lyase AlgE7 probably originate from the same active site in the enzyme
BIG Svanem et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Binding of tenascin-X to decorin
F Elefteriou et al.
FEBS LETTERS (2001)
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
AR Janecke et al.
JOURNAL OF MEDICAL GENETICS (2001)
Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans
K Sugahara et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2000)
Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family
N Hiraoka et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Molecular cloning and expression of chondroitin 4-sulfotransferase
S Yamauchi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)