Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Paired box 2

Das PAX2-Gen kodiert einen Transkriptionsfaktor der unter anderem die Expression des WT1-Gens kontrolliert. Mutationen führen zur autosomal dominanten Erkrankung des Papillorenalen-Syndroms.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Papillorenales Syndrom
PAX2
Renale Hypodysplasie/Aplasie 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Hereditäre FSGS vom Typ 7
PAX2

Referenzen:

1.

Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

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2.

Porteous S et al. (2000) Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

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3.

Tellier AL et al. (2000) Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

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4.

Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

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5.

Salomon R et al. (2001) PAX2 mutations in oligomeganephronia.

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6.

Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

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7.

Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

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8.

Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

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9.

Eccles MR et al. (2002) PAX genes in development and disease: the role of PAX2 in urogenital tract development.

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10.

Gough SM et al. (2003) Refined physical map of the human PAX2/HOX11/NFKB2 cancer gene region at 10q24 and relocalization of the HPV6AI1 viral integration site to 14q13.3-q21.1.

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11.

Patek CE et al. (2003) Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.

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12.

Cai Q et al. (2005) Pax2 expression occurs in renal medullary epithelial cells in vivo and in cell culture, is osmoregulated, and promotes osmotic tolerance.

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13.

Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

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14.

Wu H et al. (2005) Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis.

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15.

Weber S et al. (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

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16.

Hurtado A et al. (2008) Regulation of ERBB2 by oestrogen receptor-PAX2 determines response to tamoxifen.

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17.

Dressler GR et al. (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

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18.

Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.

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19.

Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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20.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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21.

Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.

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22.

Ryan G et al. (1995) Repression of Pax-2 by WT1 during normal kidney development.

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23.

Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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24.

Ward TA et al. (1994) Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.

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25.

Keller SA et al. (1994) Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.

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26.

Stapleton P et. al. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

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27.

Pilz AJ et. al. (1993) Mapping of the human homologs of the murine paired-box-containing genes.

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28.

Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

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29.

Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.

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30.

Sanyanusin P et al. (1996) Genomic structure of the human PAX2 gene.

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31.

Dehbi M et al. (1996) The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1).

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32.

Favor J et al. (1996) 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.

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33.

Schimmenti LA et al. (1997) Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

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34.

Narahara K et al. (1997) 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.

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35.

Devriendt K et al. (1998) Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

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36.

Yang Y et al. (1999) WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.

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