Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Liu Q et al.
Frontiers in Medicine, 2025
Genetic diagnosis of the Ehlers-Danlos syndromes.
Zschocke J et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL et al.
European Journal of Medical Genetics, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
Syx D et al.
American Journal of Physiology. Cell Physiology, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H et al.
Frontiers in Endocrinology, 2022
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 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
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W et al.
Journal of Inherited Metabolic Disease, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T et al.
European Journal of Human Genetics : Ejhg, 2019
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M et al.
Genes, 2019
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Paganini C et al.
The Febs Journal, 2019
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Sandler-Wilson C et al.
Bone, 2019
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2017
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.
Jaeken J et al.
European Journal of Human Genetics : Ejhg, 2017
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.
Maratha A et al.
Jimd Reports, 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
A decorin-deficient matrix affects skin chondroitin/dermatan sulfate levels and keratinocyte function.
Nikolovska K et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology.
Byers PH et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N et al.
Advances in Experimental Medicine and Biology, 2014
Whole exome sequencing to identify genetic causes of short stature.
Guo MH et al.
Hormone Research in Paediatrics, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding.
Tsutsui Y et al.
The Journal of Biological Chemistry, 2013
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
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
Zeevaert R et al.
Jimd Reports, 2013
Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.
Ishikawa Y et al.
The Journal of Biological Chemistry, 2012
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
Glycan profiling of a defect in decorin glycosylation in equine systemic proteoglycan accumulation, a potential model of progeroid form of Ehlers-Danlos syndrome.
Kim B et al.
Archives of Biochemistry and Biophysics, 2010
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.
Götte M et al.
Human Molecular Genetics, 2008
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