المؤلفون: Leopoldo Garduño-Vieyra, Bruno Flores Escobar, Isabel De la Fuente Batta

المصدر: Journal of Ophthalmology, Vol 59, Iss 61, Pp 59-61 (2022)

مصطلحات موضوعية: сorneal macular dystrophy, keratoplasty, chst6, keratin sulfate, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: https://www.ozhurnal.com/en/archive/2022/6/11-fulltextTest; https://doaj.org/toc/2412-8740Test

الوصول الحر: https://doaj.org/article/1b389d6bd3ec4102b42ad07ea2efa4bdTest

المؤلفون: Di Zhu, Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Qingjiong Zhang

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 5; Pages: 5012

مصطلحات موضوعية: corneal dystrophies, variants spectrum, TGFBI, CHST6, SLC4A11, ZEB1

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24055012Test

الإتاحة: https://doi.org/10.3390/ijms24055012Test

المؤلفون: Dewei Li, Le Tian, Xiaochuan Wang, Min Chen

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: CHST6, Macular corneal dystrophy, Penetrating keratoplasty, Clinical phenotype, Gene mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/a2f85284838749fbbb206c92c2d09ab4Test

المؤلفون: Anna Nowińska, Edyta Chlasta-Twardzik, Michał Dembski, Ewa Wróblewska-Czajka, Klaudia Ulfik-Dembska, Edward Wylęgała

المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Macular corneal dystrophy, Confocal microscopy, Optical coherence tomography, CHST6, Corneal dystrophy, Cornea, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/716fa7f9b1a84eb5adc8b5eca5b9c19eTest

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’s contracture, single-nucleotide polymorphism, extracellular matrix, MMP8, MMP14, CHST6

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13050743Test

الإتاحة: https://doi.org/10.3390/genes13050743Test

المؤلفون: Wen-Qing Shi, Qi Lin, Yi Shao

المصدر: Guoji Yanke Zazhi, Vol 19, Iss 11, Pp 1870-1873 (2019)

مصطلحات موضوعية: macular corneal dystrophy, CHST6, penetrating keratoplasty, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://ies.ijo.cn/cn_publish/2019/11/201911012.pdfTest; https://doaj.org/toc/1672-5123Test

الوصول الحر: https://doaj.org/article/800db3f36b8b4d1fa7f85759160d4aa6Test

المؤلفون: Le Tian, Xiaochuan Wang, Dewei Li, Min Chen

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomics

مصطلحات موضوعية: Male, Macular corneal dystrophy, Proband, China, Pathology, medicine.medical_specialty, genetic structures, Mutation, Missense, CHST6, Gene mutation, QH426-470, Keratitis, Exon, Cornea, Clinical phenotype, Genetics, Humans, Medicine, Missense mutation, Internal medicine, Genetics (clinical), Corneal Dystrophies, Hereditary, business.industry, nutritional and metabolic diseases, Dystrophy, Middle Aged, medicine.disease, RC31-1245, eye diseases, Pedigree, medicine.anatomical_structure, Female, sense organs, Sulfotransferases, business, Keratoplasty, Penetrating, Penetrating keratoplasty, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04872b6fe6a27e25acc3f6221188aebeTest
https://doaj.org/article/a2f85284838749fbbb206c92c2d09ab4Test

المؤلفون: Carstens, Nadia, Williams, Susan, Goolam, Saadiah, Carmichael, Trevor, Cheung, Ming, Büchmann-Møller, Stine, Sultan, Marc, Staedtler, Frank, Zou, Chao, Swart, Peter, Rice, Dennis, Lacoste, Arnaud, Paes, Kim, Ramsay, Michèle

مصطلحات موضوعية: Macular corneal dystrophy, CHST6, Whole exome sequencing, African

العلاقة: http://www.biomedcentral.com/1471-2350/17/47Test

الإتاحة: http://www.biomedcentral.com/1471-2350/17/47Test

المؤلفون: Encheng Sun, Xiaolin Lv, Donglai Wu, Ping Liu, Changlin Wang, Liyuan Wang, Xianling Tang

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Macular corneal dystrophy, Pathology, medicine.medical_specialty, keratocytes, CHST6, Gene mutation, medicine.disease_cause, macular corneal dystrophy, 03 medical and health sciences, Downregulation and upregulation, medicine, Mutation, business.industry, Endoplasmic reticulum, Carbohydrate sulfotransferase, apoptosis, Molecular biology, eye diseases, 030104 developmental biology, Oncology, Apoptosis, Unfolded protein response, endoplasmic reticulum stress, business, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c6441c129ef3fc627d7ef757a2bc5dTest
http://europepmc.org/articles/PMC5707101Test

المؤلفون: Jing, Zhang, Dan, Wu, Yue, Li, Yidan, Fan, Yiqin, Dai, Jianjiang, Xu

المصدر: Aging (Albany NY)

مصطلحات موضوعية: Adult, Corneal Dystrophies, Hereditary, Male, Adolescent, genetic variants, CHST6, Middle Aged, eye diseases, macular corneal dystrophy, Mice, Young Adult, Mutation, Animals, Humans, Female, Sulfotransferases, Child, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f4c66e70b9245246326d0c72d7d7e524Test
https://pubmed.ncbi.nlm.nih.gov/30716718Test