CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome

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

(2015) Delfien Syx et al.   HUMAN MUTATION

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

Dermatan 4-O-sulfotransferase1 ablation accelerates peripheral nerve regeneration

(2013) Nuray Akyüz et al.   EXPERIMENTAL NEUROLOGY

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

(2013) Thomas Müller et al.   HUMAN MOLECULAR GENETICS

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

(2012) Matthias Baumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome

(2012) Kevin A. Winters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

(2012) N.C. Voermans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

(2012) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

(2011) Kenji Shimizu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 Synd

(2011) Tomoki Kosho et al.   HUMAN MUTATION

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb-clubfoot syndrome”

(2011) Andreas R. Janecke et al.   HUMAN MUTATION

Dermatan sulfotransferase Chst14/D4st1, but not chondroitin sulfotransferase Chst11/C4st1, regulates proliferation and neurogenesis of neural progenitor cells

(2011) S. Bian et al.   JOURNAL OF CELL SCIENCE

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

(2010) Munis Dundar et al.   CLINICAL GENETICS

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) Fransiska Malfait et al.   HUMAN MUTATION

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

(2010) Noriko Miyake et al.   HUMAN MUTATION

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

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

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

(2009) Nicol C. Voermans et al.   ANNALS OF NEUROLOGY

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

(2008) Cecilia Giunta et al.   AMERICAN JOURNAL OF HUMAN GENETICS