Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins

Pediatric Nephrology

Volumn 16, Issue 3, 2001, Pages 227-231

  Dharnidharka, Vikas R ^c   Ruteshouser, E Cristy ^b   Rosen, Seymour ^a   Kozakewich, Harry ^a   Harris Jr , H William ^a   Herrin, John T ^a   Huff, Vicki ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^c University of Florida and UF Health Shands Children s Hospital   (United States)

Author keywords

Congenital nephrotic syndrome; Denys Drash syndrome; Diffuse mesangial sclerosis; Pulmonary dysplasia; Wilms tumor 1 gene

Indexed keywords

AMINO ACID; ARGININE; HISTIDINE;

AMINO ACID SUBSTITUTION; ARTICLE; ASSISTED VENTILATION; AUTOPSY; CASE REPORT; CONGENITAL MALFORMATION; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DEATH; DENYS DRASH SYNDROME; EPITHELIUM; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETICS; GESTATIONAL AGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY MALFORMATION; KIDNEY PARENCHYMA; LUNG DYSPLASIA; LUNG HYPOPLASIA; LUNG MALFORMATION; LUNG PARENCHYMA; MESANGIUM; MESENCHYME; MISSENSE MUTATION; MORPHOGENESIS; MUTANT; NEPHROBLASTOMA; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SCLEROSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SYMPTOM; TISSUE INTERACTION; TUMOR SUPPRESSOR GENE; TWINS; UROGENITAL SYSTEM;

FEMALE; GENES, WILMS TUMOR; GENOTYPE; HUMANS; INFANT, NEWBORN; KIDNEY; LUNG; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SCLEROSIS; SYNDROME; UROGENITAL ABNORMALITIES; UROGENITAL SYSTEM; WILMS TUMOR;

EID: 0035093715     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670000537     Document Type: Article

References (30)

1. Bilateral renal agenesis
2. Malformations of the renal system
3. The lungs in congenital bilateral renal agenesis and dysplasia
4. Measurement of fetal urine production in normal pregnancy by real-time ultrasonography
5. Human lung growth in late gestation and in the neonate
6. Development of the intrasegmental bronchial tree: The pattern of branching and development of cartilage at various stages of intrauterine life
7. A simple salting out procedure for extracting DNA from human nucleated cells
8. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
9. Zinc finger-DNA recognition: Crystal structure of a Zif268-DNA complex at 2.1 A
10. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
11. Denys-Drash syndrome: Relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1
12. WT1 exon 1 deletion/insertion mutations in Wilms' tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences
13. Genotype/phenotype-correlations in Wilms' tumor
14. Wilms' tumor genetics
15. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
16. In utero nephropathy, Denys-Drash syndrome and Potter phenotype
17. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations
18. Diffuse mesangial sclerosis in a fetus
19. Nephrotic syndrome in the first year of life
20. Histopathologic variability of the congenital nephrotic syndrome
21. XY gonadal dysgenesis associated with the congenital nephrotic syndrome
22. Infantile nephrotic syndrome with diffuse mesangial sclerosis: A disturbance of glomerular basement membrane development?
23. Familial infantile nephrotic syndrome with ocular abnormalities
24. The Wilms' tumor suppressor gene wt1 is required for development of the spleen
25. Polymorphic and tissue-specific imprinting of the human Wilms' tumor gene, WT1
26. Pathological case of the month. Congenital alveolar capillary dysplasia and misalignment of lung vessels
27. Congenital alveolar capillary dysplasia: Rare cause of persistent pulmonary hypertension
28. Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: An association of congenital anomalies
29. Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression
30. WT-1 is required for early kidney development