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[Genetic analysis of a Chinese pedigree with chronic kidney disease due to vari…

Ma(J),Zhang(H),Wang(G) Zhonghua Yi Xue Yi Chuan Xue … 2023-08-10

...PAX2 gene. The variant has been associated with focal segmental glomerulosclerosis and classified as likely pathogenic (...

Altered Fhod3 Expression Involved in Progressive High-Frequency Hearing Loss vi…

Boussaty(EC),Ninoyu(Y),Andrade(L),Li(Q),Take… bioRxiv 2023-08-27

...Pax2-Cre+/-; Fhod3Tg/+) (TG) and HC-specific conditional knockout mice (Atoh1-Cre+/-; Fhod3fl/fl) (KO). Audiological ass...

Haspin balances the ratio of asymmetric cell division through Wnt5a and regulat…

Gao(Y),Ma(B),Li(Y),Wu(X),Zhao(S),Guo(H),Wang… Cell Death Discov 2023-08-23

...Pax2 in Haspin-KO mESCs. Wnt5a knockdown mESCs phenocopied Haspin-KO cells while overexpression of Wnt5a in Haspin-KO ce...

PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.

Muntean(C),Chirtes(C),Baczoni(B),Banescu(C) Int J Mol Sci 2023-08-13

The PAX2 gene is a transcription factor that is essential for the development of the urinary system among other transcri...

Specification and survival of post-metamorphic branchiomeric neurons in the hin…

Gigante(ED),Piekarz(KM),Gurgis(A),Cohen(L),R… bioRxiv 2023-08-14

...Pax2/5/8 and Phox2 are required to specify the "Neck", a compartment of cells set aside in the larva to give rise to cra...

Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failu…

Ben-Moshe(Y),Shlomovitz(O),Atias-Varon(D),Ha… Kidney Int Rep 2023-10-00

...PAX2, COL4A1, and NFIA) which together explain 28% of all monogenic etiologies. This was followed by mutations in genes ...

Pax Protein Depletion in Proximal Tubules Triggers Conserved Mechanisms of Resi…

Beamish(JA),Telang(AC),McElliott(MC),Al-Sura… bioRxiv 2023-10-05

...Pax2 and Pax8 in recovery from ischemic AKI. We found that Pax2 and Pax8 are upregulated after severe AKI and correlate ...

Optimisation of a Method for the Differentiation of Human Umbilical Cord-derive…

Habib(R),Fahim(S),Wahid(M),Ainuddin(J) Altern Lab Anim 2023-11-00

...PAX2, KRT18 and ZO1) was examined by qRT-PCR. Specific marker protein expression (E-cadherin, cytokeratin-8 and cytokera...

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagn…

Werfel(L),Martens(H),Hennies(I),Gjerstad(AC)… Kidney Int Rep 2023-11-00

...PAX2, SALL1, and TBC1D1. Of the 27 variants detected, 52% were loss-of-function and 18.5% de novo variants. The diagnost...

An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a …

Yang(X),Zhang(H),Gao(M),Lv(Y),Song(W),Duan(C… Stem Cell Res 2023-00-00

...PAX2 gene on chromosome 10q24 can cause FSGS7. Here, we generated an induced pluripotent stem cell line SDQLCHi062-A fro...

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