| 1 |
Dressler GR. The cellular basis of kidney development[J]. Annu Rev Cell Dev Biol, 2006, 22(1)： 509-529.
|
| 2 |
Dressler GR. Patterning and early cell lineage decisions in the developing kidney： the role of Pax genes[J]. Pediatric nephrology(Berlin, Germany), 2011, 26(9)： 1387-1394.
|
| 3 |
Vainio S, Lin Y. Coordinating early kidney development： lessons from gene targeting[J]. Nat Rev Genet, 2002, 3(7)： 533-543.
|
| 4 |
Zhou TB. Signaling pathways of PAX2 and its role in renal interstitial fibrosis and glomerulosclerosis[J]. J Recept Signal Transduct Res,2012, 32(6)： 298-303.
|
| 5 |
Negrisolo S, Benetti E, Centi S,et al. PAX2 gene mutations in pediatric and young adult transplant recipients： kidney and urinary tract malformations without ocular anomalies[J]. Clin Genet, 2011,80(6)： 581-585.
|
| 6 |
Iatropoulos P, Daina E, Mele C, et al. Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation[J]. Pediatric nephrology (Berlin, Germany), 2012, 27(10)： 1989-1993.
|
| 7 |
Eccles MR, Schimmenti LA. Renal-coloboma syndrome： a multisystem developmental disorder caused by PAX2 mutations[J]. Clin Genet, 1999, 56(1)： 1-9.
|
| 8 |
GCKD Collaboration. GCKD Collaboration Global, regional, and national burden of chronic kidney disease, 1990-2017： a systematic analysis for the Global Burden of Disease Study 2017[J]. Lancet,2020, 395(10225)： 709-733.
|
| 9 |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants： a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5)：405-424.
|
| 10 |
Xiong HY, Shi YQ, Zhong C, et al. Detection of denovo PAX2 variants and phenotypes in Chinese population： a single-center study[J]. Front Genet, 2022, 13： 799562.
|
| 11 |
刘洁玮. Papillorenal综合征与PAX2基因[J]. 国际儿科学杂志,45(5)：361-364.
|
| 12 |
Yang X, Li Y, Fang Y, et al. Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort[J]. BMC Med Genomics, 2021, 14(1)： 250.
|
| 13 |
Hu X, Lin W, Luo Z, et al. Frameshift mutation in PAX2 related to focal segmental glomerular sclerosis： a case report and literature review[J]. Mol Genet Genomic Med, 2024, 12(9)： e70006.
|
| 14 |
KDIGO. KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease[J]. Kidney Int, 2024,105(4S)： S117-S314.
|
| 15 |
Paces-Fessy Mélanie, Fabre Mélanie, Lesaulnier Céline, et al.Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis[J]. Hum Mol Genet, 2012, 21(14)： 3143-3155.
|
| 16 |
Estermann Martin Andres,Williams Sarah,Hirst Claire Elizabeth, et al. Insights into gonadal sex differentiation provided by single-cell transcriptomics in the chicken embryo[J]. Cell Rep, 2020, 31(1)：107491.
|
| 17 |
Lv N, Wang Y, Liu Y, et al. Decreased microglia in Pax2 mutant mice leads to impaired learning and memory[J]. ACS Chem Neurosci, 2022, 13(16)： 2490-2502.
|
| 18 |
Wang Y, Wang Y, Tang J, et al. Impaired neural circuitry of hippocampus in Pax2 nervous system-specific knockout mice leads to restricted repetitive behaviors[J]. CNS Neurosci Ther, 2024, 30(4)： e14482.
|
| 19 |
Rossanti R, Morisada N, Nozu K, et al. Clinical and genetic variability of PAX2-related disorder in the Japanese population[J]. J Hum Genet, 2020, 65(6)： 541-549.
|
| 20 |
Muntean C, Chirtes C, Baczoni B, et al. PAX2 gene mutation in pediatric renal disorders-a narrative review[J]. Int J Mol Sci, 2023,24(16)：12737.
|
| 21 |
Deng H, Zhang Y, Xiao H, et al. Diverse phenotypes in children with PAX2-related disorder[J]. Mol Genet Genomic Med, 2019, 7(6)： e701.
|
| 22 |
Zhang L, Zhai SB, Zhao LY, et al. New PAX2 heterozygous mutation in a child with chronic kidney disease： a case report and review of the literature[J]. BMC nephrology, 2018, 19(1)： 245.
|
| 23 |
Narlis M, Grote D, Gaitan Y, et al. Pax2 and Pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney[J]. J Am Soc Nephrol, 2007, 18(4)： 1121-1129.
|
| 24 |
Longaretti L, Trionfini P, Brizi V, et al. Unravelling the role of PAX2 mutation in human focal segmental glomerulosclerosis[J].Biomedicines, 2021, 9(12)： 1808.
|