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Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X, Li Y, Fang Y, Shi H, Xiang T, Liu J, Liu J, Tang X, Fang X, Chen J, Zhai Y, Shen Q, Bi Y, Qian Y, Wu B, Wang H, Zhou W, Ma D, Bai H, Mao J, Chen L, Wang X, Gao X, Zhang R, Zhuang J, Zhang A, Jiang X, Xu H, Rao J. Yang X, et al. BMC Med Genomics. 2021 Oct 25;14(1):250. doi: 10.1186/s12920-021-01102-x. BMC Med Genomics. 2021. PMID: 34696790 Free PMC article.
Furthermore, we identified a subset of PAX2 missense variants in DNA-binding domain predicted to affect the protein structure or protein-DNA interaction associated with the phenotype of RCS. CONCLUSION: Defining the phenotypic spectrum combined with genotype in PAX2-relate …
Furthermore, we identified a subset of PAX2 missense variants in DNA-binding domain predicted to affect the protein structure or prot …
Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report.
Kobayashi Y, Hayashi T, Ishii T, Uemura H. Kobayashi Y, et al. Exp Clin Transplant. 2014 Apr;12(2):162-4. doi: 10.6002/ect.2013.0005. Epub 2013 Jul 30. Exp Clin Transplant. 2014. PMID: 23902562 Free article.
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. Few reports of a well-defined course of renal transplant for coloboma syndrome have been published. ...
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. Few reports of a well-define …
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
Alur RP, Vijayasarathy C, Brown JD, Mehtani M, Onojafe IF, Sergeev YV, Boobalan E, Jones M, Tang K, Liu H, Xia CH, Gong X, Brooks BP. Alur RP, et al. PLoS Genet. 2010 Mar 5;6(3):e1000870. doi: 10.1371/journal.pgen.1000870. PLoS Genet. 2010. PMID: 20221250 Free PMC article.
Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense mutations have been reported, raising the possibility that more subtle …
Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted …
Identification of two single nucleotide polymorphisms in exon 8 of PAX2.
Shim HH, Nakamura BN, Cantor RM, Schimmenti LA. Shim HH, et al. Mol Genet Metab. 1999 Dec;68(4):507-10. doi: 10.1006/mgme.1999.2931. Mol Genet Metab. 1999. PMID: 10607481
The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migration patterns in the course of genomic DNA mutation screening from patients with renal-coloboma syndrome. ...
The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migra …