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Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A …

Hu(X),Lin(W),Luo(Z),Zhong(Y),Xiao(X),Tang(R) Mol Genet Genomic Med 2024-09-00

Paired box gene 2 (PAX2) heterozygous mutations can cause renal coloboma syndrome, but its role in patients with focal s...

'No causative variants found': an unusual presentation of PAX2-related disorder…

Wells(PA),Basu(AP),Yates(LM) BMJ Case Rep 2025-01-21

...PAX2 microdeletion encompassing exon 4. This case adds to evidence of a broader PAX2-associated phenotype. It highlights...

The PAX2-null immunophenotype defines multiple lineages with common expression …

Ning(Gang),Bijron(Jonathan G),Yamamoto(Yusuk… J Pathol 2015-01-06

...PAX2 expression (PAX2(n) ). We evaluated PAX2 expression in proliferating adult and embryonic oviductal cells, normal mu...

Phenotypic change of glomerular podocytes in primary focal segmental glomerulos…

Ohtaka(Akihiko),Ootaka(Tetsuya),Sato(Hiroshi… Nephrol Dial Transplant 2003-03-18

WT1 and Pax2 are transcription factors involved in kidney development and phenotypic regulation of glomerular epithelial...

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD …

Thomas(Rosemary),Sanna-Cherchi(Simone),Warad… Pediatr Nephrol 2011-09-08

...PAX2 commonly cause syndromic urinary tract malformation. We searched for mutations in HNF1Β and PAX2 in North American ...

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

Shim(H H),Nakamura(B N),Cantor(R M),Schimmen… Mol Genet Metab 2000-03-01

...PAX2. The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon ...

PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis.

Wang(Peng),Zhao(Han),Sun(Mei),Li(Yuan),Chen(… Reprod Biomed Online 2012-12-26

The paired box gene 2 (PAX2) has been proven to be a crucial gene during organogenesis of the urogenital system in mice ...

Multicystic dysplastic kidney and variable phenotype in a family with a novel d…

Fletcher(Jeffery),Hu(Min),Berman(Yemima),Col… J Am Soc Nephrol 2006-01-25

The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients in...

Patterning and early cell lineage decisions in the developing kidney: the role …

Dressler(Gregory R) Pediatr Nephrol 2011-12-16

...Pax2, whose function is essential for making and maintaining the epithelium. The Pax2 protein is subject to phosphorylat...

UnPAXing the Divergent Roles of PAX2 and PAX8 in High-Grade Serous Ovarian Canc…

Hardy(LR),Salvi(A),Burdette(JE) Cancers (Basel) 2018-08-08

...PAX2 and PAX8 are lineage-specific transcription factors required during development of the fallopian tube but not in th...

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