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Select item 105060361.

Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case report

Yu-Ting Chen, Wen-Ze Jiang, Ke-Da Lu

World J Clin Cases. 2023 Sep 6; 11(25): 5947–5953. Published online 2023 Sep 6. doi: 10.12998/wjcc.v11.i25.5947

PMCID:: PMC10506036

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Select item 104847712.

Bullous Pemphigoid in X-linked Alport Syndrome

Masahiro Yamawaki, Kan Katayama, Mika Fujimoto, Hiroyuki Goto, Hiroto Yuasa, Yuji Kozuka, Mutsuki Mori, Daisuke Takahashi, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Keiichi Yamanaka, Kaoru Dohi

Intern Med. 2023 Aug 15; 62(16): 2375–2379. Published online 2022 Dec 21. doi: 10.2169/internalmedicine.0972-22

PMCID:: PMC10484771

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Select item 104487623.

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

Nengqing Liu, Xiaojun Wen, Zhanhui Ou, Xiaowu Fang, Jing Du, Xiufeng Lin

Front Pediatr. 2023; 11: 1177019. Published online 2023 Aug 10. doi: 10.3389/fped.2023.1177019

PMCID:: PMC10448762

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Select item 104366294.

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome

Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

BMC Med Genomics. 2023; 16: 192. Published online 2023 Aug 18. doi: 10.1186/s12920-023-01623-7

PMCID:: PMC10436629

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Select item 104329345.

Bilateral Giant Full Thickness Macular Holes: An Infrequent Manifestation of Alport Syndrome

Saeed Karimi, Niloofar Mohammad Bagheri Rafsanjani

J Ophthalmic Vis Res. 2023 Jul-Sep; 18(3): 328–333. Published online 2023 Jul 28. doi: 10.18502/jovr.v18i3.13781

PMCID:: PMC10432934

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Select item 104323606.

Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group

Kandai Nozu, Lourdes Paula Real Resontoc, Nakysa Hooman, Anil Vasudevan, Jie Ding, Hee Gyung Kang

Clin Exp Nephrol. 2023; 27(9): 776–780. Published online 2023 Jun 8. doi: 10.1007/s10157-023-02358-6

PMCID:: PMC10432360

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Select item 104141647.

儿童Alport综合征COL4A5基因型及临床特点分析

黄唯, 刘翠华, 李纪同, 刘玉洁, 李玉柳, 田明, 曹广海, 张书锋

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jul 15; 25(7): 732–738. Chinese. doi: 10.7499/j.issn.1008-8830.2303069

PMCID:: PMC10414164

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Select item 104044438.

Alport Syndrome and Oral Mucous Membrane Pemphigoid: An Interesting Case

Vasileios Zisis, Dimitrios Andreadis, Eustratios Kasimatis, Eustratios Vakirlis, Athanasios Poulopoulos

Cureus. 2023 Jul; 15(7): e41519. Published online 2023 Jul 7. doi: 10.7759/cureus.41519

PMCID:: PMC10404443

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Select item 103890439.

Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5

Shujun Pan, Rizhen Yu, Shikai Liang

Front Genet. 2023; 14: 1216809. Published online 2023 Jul 17. doi: 10.3389/fgene.2023.1216809

PMCID:: PMC10389043

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Select item 1037126610.

CyclosporinA Derivative as Therapeutic Candidate for Alport Syndrome by Inducing Mutant Type IV Collagen Secretion

Jun Kuwazuru, Mary Ann Suico, Kohei Omachi, Haruka Kojima, Misato Kamura, Shota Kaseda, Teppei Kawahara, Yuki Hitora, Hikaru Kato, Sachiko Tsukamoto, Mikiyo Wada, Toshifumi Asano, Shunsuke Kotani, Makoto Nakajima, Shogo Misumi, Yuya Sannomiya, Jun Horizono, Yuimi Koyama, Aimi Owaki, Tsuyoshi Shuto, Hirofumi Kai

Kidney360. 2023 Jul; 4(7): 909–917. Published online 2023 May 5. doi: 10.34067/KID.0000000000000134

PMCID:: PMC10371266

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Select item 1034310811.

Pediculosis pubis presenting as pediculosis capitis, pediculosis corporis, and pediculosis ciliaris in a case of Alport syndrome

Manal D. Dave, Hita H. Mehta, Amitkumar Rameshbhai Gorasiya, Devanshi Nitin Nimbark

Indian J Sex Transm Dis AIDS. 2023 Jan-Jun; 44(1): 71–73. Published online 2022 Dec 9. doi: 10.4103/ijstd.ijstd_88_22

PMCID:: PMC10343108

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Select item 1019729812.

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Paula Sienes Bailo, José Luis Bancalero Flores, Raquel Lahoz Alonso, María Santamaría González, Alex Gutiérrez Dalmau, Sara Álvarez de Andrés, Silvia Izquierdo Álvarez

Adv Lab Med. 2021 Aug; 2(3): 451–456. Published online 2021 Jul 30. doi: 10.1515/almed-2021-0058

Adv Lab Med. 2021 Aug; 2(3): 457–462.

PMCID:: PMC10197298

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Select item 1018533813.

Empagliflozin reduces podocyte lipotoxicity in experimental Alport syndrome

Mengyuan Ge, Judith Molina, Jin-Ju Kim, Shamroop K Mallela, Anis Ahmad, Javier Varona Santos, Hassan Al-Ali, Alla Mitrofanova, Kumar Sharma, Flavia Fontanesi, Sandra Merscher, Alessia Fornoni

eLife. 2023; 12: e83353. Published online 2023 May 2. doi: 10.7554/eLife.83353

PMCID:: PMC10185338

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Select item 1017707114.

Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes

Jan Boeckhaus, Lea Mohr, Hassan Dihazi, Burkhard Tönshoff, Lutz T. Weber, Lars Pape, Kay Latta, Henry Fehrenbach, Baerbel Lange-Sperandio, Matthias Kettwig, Hagen Staude, Sabine König, Ulrike John-Kroegel, Jutta Gellermann, Bernd Hoppe, Matthias Galiano, Dieter Haffner, Heidrun Rhode, Oliver Gross

Cells. 2023 May; 12(9): 1333. Published online 2023 May 7. doi: 10.3390/cells12091333

PMCID:: PMC10177071

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Select item 1013326215.

Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea

Ji Hyun Kim, Seon Hee Lim, Ji Yeon Song, Myung Hyun Cho, HyeSun Hyun, Eun Mi Yang, Jung Won Lee, Min Hyun Cho, Min Ji Park, Joo Hoon Lee, Jiwon Jung, Kee Hwan Yoo, Kyung Mi Jang, Ki Soo Pai, Jin-Soon Suh, Mee Kyung Namgoong, Woo Yeong Chung, Su Jin Kim, Eun Young Cho, Kyung Min Kim, Nam Hee Kim, Minsun Kim, Jin Ho Paik, Hee Gyung Kang, Yo Han Ahn, Hae Il Cheong

Sci Rep. 2023; 13: 6827. Published online 2023 Apr 26. doi: 10.1038/s41598-023-34053-7