The Experts below are selected from a list of 4548 Experts worldwide ranked by ideXlab platform
Luca Sangiorgi - One of the best experts on this subject based on the ideXlab platform.
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congenital Joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive larsen syndrome and humero spinal dysostosis
American Journal of Human Genetics, 2008Co-Authors: Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perezaytes, Hector Cortina, Luisa Bonafe, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca SangiorgiAbstract:Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondroDysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital Joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow Joint Dysplasia with subluxation and limited extension, hip Dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic Dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal Dysplasia Omani type form a phenotypic spectrum.
Pia Hermanns - One of the best experts on this subject based on the ideXlab platform.
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congenital Joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive larsen syndrome and humero spinal dysostosis
American Journal of Human Genetics, 2008Co-Authors: Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perezaytes, Hector Cortina, Luisa Bonafe, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca SangiorgiAbstract:Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondroDysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital Joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow Joint Dysplasia with subluxation and limited extension, hip Dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic Dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal Dysplasia Omani type form a phenotypic spectrum.
Kerong Dai - One of the best experts on this subject based on the ideXlab platform.
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3d bioprinting a genetically inspired cartilage scaffold with gdf5 conjugated bmsc laden hydrogel and polymer for cartilage repair
Theranostics, 2019Co-Authors: Ye Sun, Yongqing You, Wenbo Jiang, Zanjin Zhai, Kerong DaiAbstract:Rationale: Articular cartilage injury is extremely common in congenital Joint Dysplasia patients. Genetic studies have identified Growth differentiation factor 5 (GDF5) as a shared gene in Joint Dysplasia and OA progression across different populations. However, few studies have employed GDF5 in biological regeneration for articular cartilage repair. Methods & Results: In the present study, we report identified genetic association between GDF5 loci and hip Joint Dysplasia with genome-wide association study (GWAS). GWAS and replication studies in separate populations achieved significant signals for GDF5 loci. GDF5 expression was dysregulated with allelic differences in hip cartilage of DDH and upregulated in the repaired cartilage in a rabbit cartilage defect model. GDF5 in vitro enhanced chondrogenesis and migration of bone marrow stem cells (BMSCs), GDF5 was tested in ectopic cartilage generation with BMSCs by GDF5 in nude mice in vivo. Genetically inspired, we further generated functional knee articular cartilage construct for cartilage repair by 3d-bioprinting a GDF5-conjugated BMSC-laden scaffold. GDF5-conjugated scaffold showed better cartilage repairing effects compared to control. Meanwhile, transplantation of the 3D-bioprinted GDF5-conjugated BMSC-laden scaffold in rabbit knees conferred long-term chondroprotection. Conclusions: In conclusion, we report identified genetic association between GDF5 and DDH with combined GWAS and replications, which further inspired us to generate a ready-to-implant GDF5-conjugated BMSC-laden scaffold with one-step 3d-bioprinting for cartilage repair.
Antonio Perezaytes - One of the best experts on this subject based on the ideXlab platform.
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congenital Joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive larsen syndrome and humero spinal dysostosis
American Journal of Human Genetics, 2008Co-Authors: Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perezaytes, Hector Cortina, Luisa Bonafe, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca SangiorgiAbstract:Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondroDysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital Joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow Joint Dysplasia with subluxation and limited extension, hip Dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic Dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal Dysplasia Omani type form a phenotypic spectrum.
Valeria Setzu - One of the best experts on this subject based on the ideXlab platform.
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congenital Joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive larsen syndrome and humero spinal dysostosis
American Journal of Human Genetics, 2008Co-Authors: Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perezaytes, Hector Cortina, Luisa Bonafe, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca SangiorgiAbstract:Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondroDysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital Joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow Joint Dysplasia with subluxation and limited extension, hip Dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic Dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal Dysplasia Omani type form a phenotypic spectrum.
