Associated Papers
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Liu Q et al.
Frontiers in Medicine, 2025
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D et al.
Bmc Pediatrics, 2021
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2021
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG et al.
Genes, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Sandler-Wilson C et al.
Bone, 2019
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Arunrut T et al.
American Journal of Medical Genetics. Part A, 2016
Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Cartault F et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S et al.
Biomed Research International, 2015
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Guo MH et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M et al.
American Journal of Human Genetics, 2013
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
Mizumoto S et al.
The Journal of Biological Chemistry, 2013
Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
Rahuel-Clermont S et al.
The Biochemical Journal, 2010
Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
Bui C et al.
Febs Letters, 2010
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 (beta4GalT-7).
Seidler DG et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Walker LC et al.
Molecular Genetics and Metabolism, 2004
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Faiyaz-Ul-Haque M et al.
American Journal of Medical Genetics. Part A, 2004
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
Marquardt T et al.
European Journal of Pediatrics, 2003
[XGalT-1 involved in the synthesis of glyosaminoglycans of proteoglycans and Ehlers-Danlos syndrome (progeroid type)].
Furukawa K et al.
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2003
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
Furukawa K et al.
Biochimica Et Biophysica Acta, 2002
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
Okajima T et al.
The Journal of Biological Chemistry, 1999
A case of Ehlers-Danlos syndrome.
NICOD M
Annales Paediatrici. International Review of Pediatrics, 1946