PAX2 mutations in oligomeganephronia

Kidney International

Volumn 59, Issue 2, 2001, Pages 457-462

  Salomon, R ^a   Tellier, A L ^a   Attie Bitach, T ^a   Amiel, J ^a   Vekemans, M ^a   Lyonnet, S ^a   Dureau, P ^a   Niaudet, P ^a   Gubler, M C ^a   Broyer, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Coloboma; Inheritance; Optic disk dysplasia in OMN; Renal hypoplasia; Retinal defects in Pax2; Transcription factor

Indexed keywords

DNA; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY ANOMALY; KIDNEY HYPOPLASIA; OLIGOMEGANEPHRONY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0035131829     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2001.059002457.x     Document Type: Article

References (24)

1. Bilateral renal hypoplasia with oligonephronia
2. Deficient metanephric blastema: A cause of oligomeganephronia?
3. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
4. A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia
5. Oligomeganephronia associated with 4p deletion type chromosomal anomaly
6. Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome
7. Familial occurrence of oligomeganephronia
8. Expression of the PAX 2 gene in human embryos and exclusion in the CHARGE syndrome
9. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
10. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus
11. Pax 2 contributes to inner ear patterning and optic nerve trajectory
12. Optic nerve coloboma associated with renal disease
13. Mutation of PAX2 in two siblings with renal-coloboma syndrome
14. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
15. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX 2 mutations
16. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome
17. Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10; 13) translocation and optic nerve coloboma-renal disease
18. The prevalence of PAX 2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
19. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
20. Primary renal hypoplasia in humans and mice with PAX2 mutations: Evidence of increased apoptosis in fetal kidneys of Pax2 (1Neu) +/- mutant mice
21. Oligomeganephronic renal hypoplasia
22. Genomic structure of the human PAX 2 gene
23. WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis
24. PAX2, a new murine paired-box-containing gene and its expression in the developing excretory system