Mutations in DSTYK and dominant urinary tract malformations

New England Journal of Medicine

Volumn 369, Issue 7, 2013, Pages 621-629

  Sanna Cherchi, S ^a,c   Sampogna, R V ^a   Papeta, N ^a   Burgess, K E ^a   Nees, S N ^a   Perry, B J ^a   Choi, M ^d,e   Bodria, M ^f,g   Liu, Y ^m   Weng, P L ^a,b   Lozanovski, V J ^o   Verbitsky, M ^a   Lugani, F ^a,f   Sterken, R ^a   Paragas, N ^a   Caridi, G ^f   Carrea, A ^f   Dagnino, M ^f   Materna Kiryluk, A ^p   Santamaria, G ^f   Murtas, C ^f   Ristoska Bojkovska, N ^o   Izzi, C ^h   Kacak, N ^a   Bianco, B ⁱ   Giberti, S ⁱ   Gigante, M ^j   Piaggio, G ^f   Gesualdo, L ^k   Kosuljandic Vukic, D ^q   Vukojevic, K ^r   Saraga Babic, M ^r   Saraga, M ^d,q,r   Gucev, Z ^o   Allegri, L ⁱ   Latos Bielenska, A ^p   Casu, D ^l   State, M ^d,q,r   Scolari, F ^h   Ravazzolo, R ^f   Kiryluk, K ^a   Al Awqati, Q ^a   D'Agati, V D ^b   Drummond, I A ^m,n   Tasic, V ^o   Lifton, R P ^d   Ghiggeri, G M ^f   Gharavi, A G ^a   more..

^a Russ Berrie Pavilion 413 ^*  (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Seoul National University College of Medicine   (South Korea)

^f UNIVERSITY OF GENOA   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

^h UNIVERSITY OF BRESCIA   (Italy)

ⁱ UNIVERSITY OF PARMA   (Italy)

^j UNIVERSITY OF FOGGIA   (Italy)

^k UNIVERSITY OF BARI   (Italy)

^l Hospital of Alghero   (Italy)

^m MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁿ HARVARD MEDICAL SCHOOL   (United States)

^o UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^p POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^q UNIVERSITY HOSPITAL SPLIT   (Croatia)

^r UNIVERSITY OF SPLIT   (Croatia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL MEMBRANE; CHILD; DOWNSTREAM PROCESSING; DSTYK GENE; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INFANT; KIDNEY DISEASE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MESENCHYME; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; URINARY TRACT DISEASE; URINARY TRACT MALFORMATION;

EID: 84881448082     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1214479     Document Type: Article

References (25)

1. Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J. Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol 2011;91:Suppl 1:S31-S43.
2. Birth Defects Monitoring Program (BDMP)/Commission on Professional and Hospital Activities (CPHA) surveillance data, 1988-1991. Teratology 1993;48:658-75.
3. Ardissino G, Dacco V, Testa S, et al. Epidemiology of chronic renal failure in children: data from the ItalKid project. Pediatrics 2003;111:e382-e387.
4. Sanna-Cherchi S, Ravani P, Corbani V, et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int 2009;76:528-33.
5. Woolf AS, Winyard PJ. Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations. Pediatr Dev Pathol 2002;5:108-29. (Pubitemid 34475444)
6. Weber S, Moriniere V, Knuppel T, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 2006;17:2864-70. (Pubitemid 44484676)
7. Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr Nephrol 2011;26:897-903.
8. Sanna-Cherchi S, Caridi G, Weng PL, et al. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet; 2007;80:539-49.
9. Weng PL, Sanna-Cherchi S, Hensle T, et al. A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. J Am Soc Nephrol 2009;20:1633-40.
10. Boyden LM, Choi M, Choate KA, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012;482:98-102.
11. Sanna-Cherchi S, Burgess KE, Nees SN, et al. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. Kidney Int 2011;80:389-96.
12. Langenau DM, Feng H, Berghmans S, Kanki JP, Kutok JL, Look AT. Cre/lox-regulated transgenic zebrafish model with conditional myc-induced T cell acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 2005;102:6068-73. (Pubitemid 40594256)
13. Sanna-Cherchi S, Kiryluk K, Burgess KE, et al. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet 2012;91:987-97.
14. Abe G, Ide H, Tamura K. Function of FGF signaling in the developmental process of the median fin fold in zebrafish. Dev Biol 2007;304:355-66. (Pubitemid 46399694)
15. Griffin KJ, Kimelman D. Interplay between FGF, one-eyed pinhead, and T-box transcription factors during zebrafish posterior development. Dev Biol 2003;264:456-66. (Pubitemid 37490981)
16. Nissen RM, Yan J, Amsterdam A, Hopkins N, Burgess SM. Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterning. Development 2003;130:2543-54. (Pubitemid 36722404)
17. Bates CM. Role of fibroblast growth factor receptor signaling in kidney development. Am J Physiol Renal Physiol 2011;301:F245-F251.
18. Corson LB, Yamanaka Y, Lai KM, Rossant J. Spatial and temporal patterns of ERK signaling during mouse embryogenesis. Development 2003;130:4527-37. (Pubitemid 37279407)
19. Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet 2007;8:791-802. (Pubitemid 47429212)
20. Sanna-Cherchi S, Caridi G, Weng PL, et al. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 2007;22:1675-84. (Pubitemid 47337420)
21. Barak H, Huh SH, Chen S, et al. FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell 2012;22:1191-207.
22. Poladia DP, Kish K, Kutay B, et al. Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme. Dev Biol 2006;291:325-39.
23. Guillemot F, Zimmer C. From cradle to grave: the multiple roles of fibroblast growth factors in neural development. Neuron 2011;71:574-88.
24. Zhao H, Kegg H, Grady S, et al. Role of fibroblast growth factor receptors 1 and 2 in the ureteric bud. Dev Biol 2004;276:403-15. (Pubitemid 39592403)
25. Zha J, Zhou Q, Xu LG, et al. RIP5 is a RIP-homologous inducer of cell death. Biochem Biophys Res Commun 2004;319:98-303.