المؤلفون: Hiroka Iwata, Hirohito Kotani, Ai Kuzumi, Natsuko Inagaki, Shinichi Sato

المصدر: Journal of Cutaneous Immunology and Allergy, Vol 7 (2024)

مصطلحات موضوعية: Hailey-Hailey disease, ATP2C1, novel variant, frame-shift variant, ATP2C1 gene, Dermatology, RL1-803, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontierspartnerships.org/articles/10.3389/jcia.2024.13246/full; https://doaj.org/toc/2574-4593

URL الوصول: https://doaj.org/article/5f51c073a7254513a81caaeaa823e16d

المؤلفون: Tomohisa Horikawa, MD, Sayaka Yamaguchi, PhD, MD, Takuya Omine, PhD, MD, Takuya Miyagi, MD, Daisuke Utsumi, PhD, MD, Kenzo Takahashi, PhD, MD

المصدر: JAAD Case Reports, Vol 50, Iss , Pp 91-93 (2024)

مصطلحات موضوعية: ATP2C1, autosomal dominant disease, familial benign chronic pemphigus, Hailey-Hailey disease, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512624000201; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/e146bf2185d34a488283f3d810a508bb

المؤلفون: Zhang D, Xiao Z, Ouyang X, Wang X, Zhu Y, Yu S, Li C

المصدر: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 16, Pp 1545-1548 (2023)

مصطلحات موضوعية: hailey-hailey disease, novel mutation, atp2c1, chinese pedigree, sanger sequencing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.dovepress.com/two-novel-and-a-recurrent-atp2c1-mutations-in-chinese-population-with--peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

URL الوصول: https://doaj.org/article/e6415b6d01304a45bdb8580bd25c8aa9

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المؤلفون: Amber, Kyle T, Valdebran, Manuel, Grando, Sergei A

المصدر: Frontiers in Immunology. 9(JUN)

مصطلحات موضوعية: Autoimmune Disease, Rare Diseases, Clinical Research, Animals, Autoantibodies, Desmoglein 3, Desmosomes, Epitopes, Humans, Keratinocytes, Mice, Pemphigus, Pemphigus, Benign Familial, pemphigus, autoantibodies, secretory pathway Ca2+ ATPase, ATP2C1, acantholysis, keratinocyte, acetylcholine, Immunology, Medical Microbiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6wk399d6

المؤلفون: Misako Yamaga, Toshinari Miyauchi, Jin Teng Peh, Sota Itamoto, Yosuke Mai, Hiroaki Iwata, Toshifumi Nomura, Hideyuki Ujiie

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Hailey-Hailey disease, apremilast, familial benign chronic pemphigus, ATP2C1, phosphodiesterase-4 inhibitor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.884359/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c82a069ee2ed4d33baac134c7242caa0

المؤلفون: Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li, Zhenghui Wang

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Familial benign chronic pemphigus, ATP2C1, Gene mutation, p63, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01056-4; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/4d3ae690057c4bdca2419a28f2342f77

المؤلفون: Yuwei Dai, Lingling Yu, Yu Wang, Min Gao, Peiguang Wang

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: hailey–hailey disease, ATP2C1 gene, mutation, acantholytic dyskeratosis, familial benign chronic pemphigus, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.777630/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/526367dc4b4945fdb294b8ad20b2fecb

المؤلفون: Sawicka, J., Kutkowska-Kaźmierczak, A., Woźniak, K., Tysarowski, A., Osipowicz, K., Poznański, J., Rygiel, A. M., Braun-Walicka, N., Niepokój, K., Bal, J., Kowalewski, C., Wertheim-Tysarowska, K.^Aff1

المصدر: Journal of Applied Genetics. 61(2):187-193

المؤلفون: M. V. Drozhdina, S. V. Koshkin

المصدر: Vestnik Dermatologii i Venerologii, Vol 94, Iss 4, Pp 7-14 (2018)

مصطلحات موضوعية: hailey — hailey disease, encoding the mutant gene atp2c1, adhesive properties of keratinocytes, secretory path of the enzyme ca2+/ mn2+ atpase (hspca1), Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.vestnikdv.ru/jour/article/view/418; https://doaj.org/toc/0042-4609; https://doaj.org/toc/2313-6294

URL الوصول: https://doaj.org/article/65bf4c8cc45c4d0a82965933d2ad88a2