Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Source :

• Human Mutation [ 1059-7794 ] ; 2012-08.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Accessory center, Additional anomalies, Alamut software, Anomaly, Antiporter exchanger, Atypical hand anomalies, Basal medium, Broblasts, Cant1, Cant1 mutation, Cant1 mutations, Carbohydrate sulfotransferase, Carpal bone, Chain initiator, Characteristic hand anomalies, Chst3, Chst3 conditions, Clinical genetics, Clinical overlap, Clinical spectrum, Club feet, Control cell lines, Control chromosomes, Delta phalanx, Desbuquois, Desbuquois dysplasia, Desbuquois dysplasia type, Diagnosis criteria, Dislocation, Dislocation hand anomalies, Distal phalanx, Distinct cant1 mutations, Dysplasia, Elbow limitation, Epiphyseal interphalangeal anomalies, Extra center, Extra centers, Fourth metacarpals, Genet, Genetic heterogeneity, Genetic medicine, Genetics, Glycosaminoglycan chains, Glycosyltransferase reactions, Golgi apparatus, Hand anomalies, Human genetics, Human mutation, Humerospinal dysostosis, Hyaluronic, Hyaluronic acid, Hyaluronic acid synthesis, Independent experiments, Istanbul university, Joint laxity, Medical genetics, Mental retardation, Metacarpal, Missense mutations, Multiple dislocations, Mutation, Ncbi reference sequence, Nger, Nger dislocations, Nonsense mutations, Normal values, Novel mutations, Omani type, Patient cells, Plasma membrane, Protein content, Proteoglycan, Proteoglycan metabolism, Proteoglycan sulfation, Proteoglycan synthesis, Proteoglycans, Proximal femur, Reference sequence, Region encoding, Same buffer, Second metacarpal, Short metacarpals, Sodium acetate buffer, Spondyloepiphyseal dysplasia, Thumb digitalization, Translation initiation codon, Variant, Wiley periodicals.
• Teeft :
  • Accessory center, Additional anomalies, Alamut software, Anomaly, Antiporter exchanger, Atypical hand anomalies, Basal medium, Broblasts, Cant1, Cant1 mutation, Cant1 mutations, Carbohydrate sulfotransferase, Carpal bone, Chain initiator, Characteristic hand anomalies, Chst3, Chst3 conditions, Clinical genetics, Clinical overlap, Clinical spectrum, Club feet, Control cell lines, Control chromosomes, Delta phalanx, Desbuquois, Desbuquois dysplasia, Desbuquois dysplasia type, Diagnosis criteria, Dislocation, Dislocation hand anomalies, Distal phalanx, Distinct cant1 mutations, Dysplasia, Elbow limitation, Epiphyseal interphalangeal anomalies, Extra center, Extra centers, Fourth metacarpals, Genet, Genetic heterogeneity, Genetic medicine, Genetics, Glycosaminoglycan chains, Glycosyltransferase reactions, Golgi apparatus, Hand anomalies, Human genetics, Human mutation, Humerospinal dysostosis, Hyaluronic, Hyaluronic acid, Hyaluronic acid synthesis, Independent experiments, Istanbul university, Joint laxity, Medical genetics, Mental retardation, Metacarpal, Missense mutations, Multiple dislocations, Mutation, Ncbi reference sequence, Nger, Nger dislocations, Nonsense mutations, Normal values, Novel mutations, Omani type, Patient cells, Plasma membrane, Protein content, Proteoglycan, Proteoglycan metabolism, Proteoglycan sulfation, Proteoglycan synthesis, Proteoglycans, Proximal femur, Reference sequence, Region encoding, Same buffer, Second metacarpal, Short metacarpals, Sodium acetate buffer, Spondyloepiphyseal dysplasia, Thumb digitalization, Translation initiation codon, Variant, Wiley periodicals.

Abstract

• https://api.istex.fr/document/4237FCFD546412F238BAEA709BD6213A8140FB85/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427906

Affiliations:

• Allemagne, Australie, Belgique, Canada, France, Irlande (pays), Italie, Pays-Bas, Royaume-Uni, Turquie, Émirats arabes unis
• Angleterre, District de Cologne, Grand Manchester, Hollande-Septentrionale, Midlands de l'Ouest, Nouvelle-Galles du Sud, Rhénanie-du-Nord-Westphalie, Région de Bruxelles-Capitale, Île-de-France
• Aix-la-Chapelle, Amsterdam, Birmingham, Bruxelles, Manchester, Paris, Sydney
• Université de Sydney

Links toward previous steps (curation, corpus...)

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• to stream Pmc, to step Curation: 002434
• to stream Pmc, to step Checkpoint: 001F38
• to stream Ncbi, to step Merge: 000D93
• to stream Ncbi, to step Curation: 000D93
• to stream Ncbi, to step Checkpoint: 000D93
• to stream Main, to step Merge: 005943
• to stream Main, to step Curation: 005676

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