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Select item 109900291.

Alport syndrome and Alport kidney diseases – elucidating the disease spectrum

Pongpratch Puapatanakul, Jeffrey H. Miner

Curr Opin Nephrol Hypertens. 2024 May; 33(3): 283–290. Published online 2024 Mar 13. doi: 10.1097/MNH.0000000000000983

PMCID:: PMC10990029

Article PDF–1.4M

Select item 109852182.

Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome

Valerie S LeBleu, Keizo Kanasaki, Sara Lovisa, Joseph L Alge, Jiha Kim, Yang Chen, Yingqi Teng, Behzad Gerami-Naini, Hikaru Sugimoto, Noritoshi Kato, Ignacio Revuelta, Nicole Grau, Jonathan P Sleeman, Gangadhar Taduri, Akane Kizu, Shahin Rafii, Konrad Hochedlinger, Susan E Quaggin, Raghu Kalluri

Life Sci Alliance. 2024 Jun; 7(6): e202402664. Published online 2024 Mar 28. doi: 10.26508/lsa.202402664

PMCID:: PMC10985218

Article PDF–2.8M

Select item 109429413.

Ocular manifestations of renal ciliopathies

Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol. 2024; 39(5): 1327–1346. Published online 2023 Aug 30. doi: 10.1007/s00467-023-06096-5

PMCID:: PMC10942941

Article PDF–1.4M

Select item 109159304.

Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center

Amir Emami, Fatemeh Nili, Maryam Sotoudeh Anvari, Samaneh Salarvand, Golnar Seirafi

Arch Iran Med. 2024 Jan; 27(1): 8–14. Published online 2024 Jan 1. doi: 10.34172/aim.2024.02

PMCID:: PMC10915930

Article PDF–751K

Select item 109102135.

Genetic diagnosis of Alport syndrome in 16 Chinese families

Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang

Mol Genet Genomic Med. 2024 Mar; 12(3): e2406. Published online 2024 Mar 3. doi: 10.1002/mgg3.2406

PMCID:: PMC10910213

Article PDF–994K

Select item 109017256.

NRF2 in kidney physiology and disease

Corry D. Bondi, Hannah L. Hartman, Roderick J. Tan

Physiol Rep. 2024 Mar; 12(5): e15961. Published online 2024 Feb 28. doi: 10.14814/phy2.15961

PMCID:: PMC10901725

Article PDF–908K

Select item 108914387.

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao

Mol Genet Genomic Med. 2024 Feb; 12(2): e2395. Published online 2024 Feb 23. doi: 10.1002/mgg3.2395

PMCID:: PMC10891438

Article PDF–3.0M

Select item 108559298.

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Adele Mitrotti, Ighli Di Bari, Marica Giliberti, Rossana Franzin, Francesca Conserva, Anna Chiusolo, Maddalena Gigante, Matteo Accetturo, Cesira Cafiero, Luisa Ricciato, Emma Diletta Stea, Cinzia Forleo, Anna Gallone, Michele Rossini, Marco Fiorentino, Giuseppe Castellano, Paola Pontrelli, Loreto Gesualdo

Int J Mol Sci. 2024 Feb; 25(3): 1436. Published online 2024 Jan 24. doi: 10.3390/ijms25031436

PMCID:: PMC10855929

Article PDF–948K

Select item 108178449.

Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis

Victor Zhu, Tess Huang, David Wang, Deb Colville, Heather Mack, Judy Savige

Pediatr Nephrol. 2024; 39(3): 655–679. Published online 2023 Aug 14. doi: 10.1007/s00467-023-06073-y

PMCID:: PMC10817844

Article PDF–1.6M

Select item 1074653110.

Collagen IV of basement membranes: II. Emergence of collagen IV^α345 enabled the assembly of a compact GBM as an ultrafilter in mammalian kidneys

Elena N. Pokidysheva, Neve Redhair, Octavia Ailsworth, Patrick Page-McCaw, Louise Rollins-Smith, Vijayishwer Singh Jamwal, Yuko Ohta, Hans Peter Bächinger, Prayag Murawala, Martin Flajnik, Agnes B. Fogo, Dale Abrahamson, Julie K. Hudson, Sergei P. Boudko, Billy G. Hudson

J Biol Chem. 2023 Dec; 299(12): 105459. Published online 2023 Nov 15. doi: 10.1016/j.jbc.2023.105459

PMCID:: PMC10746531

Article PDF–6.8M

Select item 1065959611.

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports

Xiaoli Gao, Meilu Li, Kan Wang, Zengyan Li, Cha Han

Medicine (Baltimore) 2023 Nov 17; 102(46): e36057. Published online 2023 Nov 17. doi: 10.1097/MD.0000000000036057

PMCID:: PMC10659596

Article PDF–792K

Select item 1060601912.

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya

Genes (Basel) 2023 Oct; 14(10): 1854. Published online 2023 Sep 23. doi: 10.3390/genes14101854

PMCID:: PMC10606019

Article PDF–435K

Select item 1056882213.

Ascending aortic aneurysm and histopathology in Alport syndrome: a case report

Ali Kamiar, Qusai Alitter, Jose M. C. Capcha, Ali Saad, Keith A. Webster, Lina A. Shehadeh

BMC Nephrol. 2023; 24: 300. Published online 2023 Oct 12. doi: 10.1186/s12882-023-03345-5

PMCID:: PMC10568822

Article PDF–1.8M

Select item 1053949614.

iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome

Ryuichiro Hirayama, Kosuke Toyohara, Kei Watanabe, Takeya Otsuki, Toshikazu Araoka, Shin-Ichi Mae, Tomoko Horinouchi, Tomohiko Yamamura, Keisuke Okita, Akitsu Hotta, Kazumoto Iijima, Kandai Nozu, Kenji Osafune

Commun Biol. 2023; 6: 854. Published online 2023 Sep 28. doi: 10.1038/s42003-023-05203-4

PMCID:: PMC10539496

Article PDF–6.9M

Select item 1053021415.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner

Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686

PMCID:: PMC10530214

Article PDF–848K

Select item 1050658416.

FSGS and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis

Mira Krendel, Sabine Leh, Michael E. Garone, Alcia Edwards-Richards, Jen-Jar Lin, Damien Brackman, Per Knappskog, Alexei Mikhailov

Pediatr Nephrol. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 439–449. Published online 2022 Jun 20. doi: 10.1007/s00467-022-05634-x

PMCID:: PMC10506584

Article PDF–1.7M

Select item 1043662917.

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

Article PDF–2.4M

Select item 1043236018.

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

Article PDF–385K

Select item 1041416419.

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

Article PDF–1.1M

Select item 1037126620.

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