4.5 Article

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural EhlersDanlos syndrome

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。
Article Genetics & Heredity

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)

Article Genetics & Heredity

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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)

Article Genetics & Heredity

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)

Article Genetics & Heredity

The Ehlers-Danlos syndrome, a disorder with many faces

A. De Paepe et al.

CLINICAL GENETICS (2012)

Review Biochemistry & Molecular Biology

Chondroitin Sulfate Wobble Motifs Modulate Maintenance and Differentiation of Neural Stem Cells and Their Progeny

Anurag Purushothaman et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Cell Biology

Iduronic Acid in Chondroitin/Dermatan Sulfate: Biosynthesis and Biological Function

Anders Malmstrom et al.

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2012)

Article Genetics & Heredity

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Sevjidmaa Baasanjav et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

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

Munis Dundar et al.

CLINICAL GENETICS (2010)

Article Genetics & Heredity

Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome

Noriko Miyake et al.

HUMAN MUTATION (2010)

Article Genetics & Heredity

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

Munis Duendar et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Letter Genetics & Heredity

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)

Article Clinical Neurology

Neuromuscular Involvement in Various Types of Ehlers-Danlos Syndrome

Nicol C. Voermans et al.

ANNALS OF NEUROLOGY (2009)

Article Biochemistry & Molecular Biology

Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate

Benny Pacheco et al.

GLYCOBIOLOGY (2009)

Article Biochemistry & Molecular Biology

Two Dermatan Sulfate Epimerases Form Iduronic Acid Domains in Dermatan Sulfate

Benny Pacheco et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Review Biochemistry & Molecular Biology

Chondroitin/dermatan sulfate in the central nervous system

Kazuyuki Sugahara et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2007)

Letter Genetics & Heredity

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)

Review Multidisciplinary Sciences

Heparan sulphate proteoglycans fine-tune mammalian physiology

Joseph R. Bishop et al.

NATURE (2007)

Article Biochemistry & Molecular Biology

A model of tenascin-X integration within the collagenous network

Claire Lethias et al.

FEBS LETTERS (2006)

Article Biochemistry & Molecular Biology

Biosynthesis of dermatan sulfate -: Chondroitin-glucuronate C5-epimerase is identical to SART2

M Maccarana et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Letter Genetics & Heredity

Allegro version 2

DF Gudbjartsson et al.

NATURE GENETICS (2005)

Review Cell Biology

Heparan sulphate proteoglycans:: The sweet side of development

U Häcker et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)

Review Genetics & Heredity

Collagen VI related muscle disorders

AK Lampe et al.

JOURNAL OF MEDICAL GENETICS (2005)

Review Biochemistry & Molecular Biology

Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate

K Sugahara et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)

Review Biochemistry & Molecular Biology

Sulfotransferases in glycosaminoglycan biosynthesis

M Kusche-Gullberg et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)

Article Biochemistry & Molecular Biology

Essential role of glycosaminoglycans in Fgf signaling during mouse gastrulation

MJ García-García et al.

Review Biochemistry & Molecular Biology

Dermatan sulfate: new functions from an old glycosaminoglycan

JM Trowbridge et al.

GLYCOBIOLOGY (2002)

Article Genetics & Heredity

A case with adducted thumb and club foot syndrome

M Dundar et al.

CLINICAL DYSMORPHOLOGY (2001)

Article Biochemistry & Molecular Biology

Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase

MR Evers et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Biochemistry & Molecular Biology

Binding of tenascin-X to decorin

F Elefteriou et al.

FEBS LETTERS (2001)

Letter Genetics & Heredity

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

AR Janecke et al.

JOURNAL OF MEDICAL GENETICS (2001)

Article Biochemistry & Molecular Biology

Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans

K Sugahara et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2000)

Article Biochemistry & Molecular Biology

Molecular cloning and expression of chondroitin 4-sulfotransferase

S Yamauchi et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)