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1دورية أكاديمية
المؤلفون: Mizumoto, Shuji, Yamada, Shuhei
المصدر: Genes; Feb2023, Vol. 14 Issue 2, p509, 16p
مصطلحات موضوعية: DERMATAN sulfate, EHLERS-Danlos syndrome, JOINT hypermobility, SULFOTRANSFERASES, ENZYMES, CONGENITAL disorders, CHONDROITIN sulfate proteoglycan, PROTEOGLYCANS
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2دورية أكاديمية
المؤلفون: Yoshizawa, Takahiro, Kosho, Tomoki
المصدر: Genes; Feb2023, Vol. 14 Issue 2, p436, 12p
مصطلحات موضوعية: EHLERS-Danlos syndrome, LABORATORY mice, DERMATAN sulfate, MICE, SPINE abnormalities, THUMB, NEMALINE myopathy, SULFOTRANSFERASES
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3دورية أكاديمية
المؤلفون: Hashimoto, Ayana, Hirose, Takuya, Hashimoto, Kohei, Mizumoto, Shuji, Nitahara-Kasahara, Yuko, Saka, Shota, Yoshizawa, Takahiro, Okada, Takashi, Yamada, Shuhei, Kosho, Tomoki, Watanabe, Takafumi, Miyata, Shinji, Nomura, Yoshihiro
المصدر: Genes; Feb2023, Vol. 14 Issue 2, p308, 14p
مصطلحات موضوعية: EHLERS-Danlos syndrome, CHONDROITIN sulfate proteoglycan, DERMATAN sulfate, COLLAGEN, CONNECTIVE tissues, SULFOTRANSFERASES, HUMAN abnormalities
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4
المؤلفون: Gediminas Samulenas, Ruta Insodaite, Edita Kunceviciene, Roberta Poceviciute, Lorena Masionyte, Urte Zitkeviciute, Loreta Pilipaityte, Alina Smalinskiene
المصدر: Genes; Volume 13; Issue 5; Pages: 743
مصطلحات موضوعية: Dupuytren Contracture, Dupuytren’s contracture, single-nucleotide polymorphism, extracellular matrix, MMP8, MMP14, CHST6, Matrix Metalloproteinase 8, Genetics, Matrix Metalloproteinase 14, Humans, Sulfotransferases, Polymorphism, Single Nucleotide, Genetics (clinical), Extracellular Matrix
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da8beabf2d22265a6c3663bcf7d03caTest
https://pubmed.ncbi.nlm.nih.gov/35627129Test -
5
المؤلفون: Edina Szabó, Henriette Farkas, Dorottya Csuka, Lilian Varga, Anna Dóczy
المصدر: Genes
Volume 12
Issue 3
Genes, Vol 12, Iss 402, p 402 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:QH426-470, Gene mutation, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, immune system diseases, Genetics, Angiopoietin-1, Medicine, Humans, cardiovascular diseases, skin and connective tissue diseases, Gene, biorepository, Genetics (clinical), Genetic testing, Factor XII, medicine.diagnostic_test, business.industry, Kininogens, Angioedemas, Hereditary, medicine.disease, hereditary angioedema, lcsh:Genetics, 030104 developmental biology, family screening, 030228 respiratory system, Mutation (genetic algorithm), Hereditary angioedema, Mutation testing, plasminogen, Female, Sulfotransferases, mutation, business, Complement C1 Inhibitor Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea8ac5c192f7de0adc8ed7c1c193c754Test
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6
المؤلفون: Fozia Fozia, Hafiz Majid Mahmood, Abdul Nasir, Saadullah Khan, Muhammad Sohaib, Sher Alam Khan, Rubina Nazli, Siddique Akber Ansari, Ahmed Bari, Sulman Basit, Abdulrahman M. Al-Obaid, Riaz Ullah
المصدر: Genes
Genes, Vol 12, Iss 373, p 373 (2021)
Volume 12
Issue 3مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, lcsh:QH426-470, TGM1 and SPINK5, Biology, Filaggrin Proteins, Article, whole exome sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, Consanguinity, 0302 clinical medicine, Congenital ichthyosis, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Pakistan, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Transglutaminases, Ichthyosis, Homozygote, S100 Proteins, medicine.disease, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Case-Control Studies, Mutation, Etiology, symbols, Serine Peptidase Inhibitor Kazal-Type 5, Female, Sulfotransferases, splice site variant, Ichthyosis vulgaris
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b639227b5c722513fd698bc6606562fdTest
http://europepmc.org/articles/PMC7999895Test -
7
المؤلفون: Noriko Miyake, Shuhei Yamada, Shuji Mizumoto, Tomoki Kosho, Takahiro Yoshizawa, Takafumi Watanabe
المصدر: Genes, Vol 11, Iss 1, p 43 (2019)
Genesمصطلحات موضوعية: Male, collagen, 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:QH426-470, Decorin, carbohydrate sulfotransferase-14 (CHST14)/dermatan 4-O-sulfotransferase-1 (D4ST1), Dermatan Sulfate, Connective tissue, DSE, Review, 030105 genetics & heredity, musculocontractural ehlers–danlos syndome, Dermatan sulfate, Glycosaminoglycan, 03 medical and health sciences, chemistry.chemical_compound, Antigens, Neoplasm, Genetics, medicine, Humans, Chondroitin sulfate, Genetics (clinical), decorin, chst14, Chondroitin Sulfates, Carbohydrate sulfotransferase, medicine.disease, Neoplasm Proteins, Pedigree, carbohydrate sulfotransferase-14 (chst14)/dermatan 4-o-sulfotransferase-1 (d4st1), DNA-Binding Proteins, lcsh:Genetics, Phenotype, dse, 030104 developmental biology, medicine.anatomical_structure, chemistry, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, Female, CHST14, Sulfotransferases, dermatan sulfate (ds), Reticular Dermis, dermatan sulfate epimerase (dse)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::288da9a5274bbce8e840e001b0e0d5adTest
https://doi.org/10.3390/genes11010043Test