Probing the Gene eXpression Database for candidate genes

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 910-919

  Van Steensel, Maurice A M ^b   Celli, J ^b   Van Bokhoven, J H ^b   Brunner, H G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

Candidate gene; Database; Gene expression; Internet; Syndrome

Indexed keywords

ARTICLE; DATA BASE; GENE EXPRESSION; HOUSEKEEPING GENE; HUMAN; HYPOPIGMENTATION; KNOCKOUT MOUSE; MOUSE; MULTIPLE MALFORMATION SYNDROME; NONHUMAN; PILOT STUDY; PRIORITY JOURNAL; SYMPTOM; WALKER WARBURG SYNDROME;

EID: 0033399249     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200405     Document Type: Article

References (40)

1. Friedman PA, Kaufman S, Kang ES: Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia. Nature 1972; 240: 157-159.
2. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D et al: The molecular basis of alkaptonuria. Nat Genet 1996; 14: 19-24.
3. Wood WI, Capon DJ, Simonsen CC et al: Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 310: 330-337.
4. Ballabio A: The rise and fall of positional cloning? Nat Genet 1993; 3: 277-279.
5. Beighton P, De Paepe A, Hall JG et al: Molecular nosology of heritable disorders of connective tissue. Am J Med Genet 1992; 42: 431-448.
6. Dryja TP: Gene-based approach to human gene-pheno-type correlations. Proc Natl Acad Sci USA 1997; 94: 12117-12121.
7. Robertson NG, Skvorak AB, Yin Y et al: Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics 1997; 46: 345-354.
8. 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects in brain, ear, eye and kidney. Proc Natl Acad Sci USA 1996; 93: 13870-13875.
9. Sanyanusin P, Schimmenti LA, McNoe LA et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesico-ureteral reflux. Nat Genet 1995; 9: 358-364.
10. Winter RM, Baraitser M: The London Dysmorphology Database: a Computerized Database for the Diagnosis of Rare Dysmorphic Syndromes. 5th edn. Oxford University Press: Oxford, 1998.
11. Preus M, Ayme S: Formal analysis of dysmorphism: objective methods of syndrome definition. Clin Genet 1983; 23: 1-16.
12. Bankier A, Keith CG: POSSUM: the microcomputer laser-videodisc syndrome information system. Ophtalm Paediatr Genet 1989; 10: 51-52.
13. Bankier A, Sillence DM, Maroteaux P et al: 'OSSUM', an illustrated database of skeletal dysplasias. 1994. Possum s.o Telemedia Software Laboratories http://tsl.cpg.com.au/ possum5.htm
14. Van Steensel MAM, Winter RM: Internet databases for clinical geneticists - an overview. Clin Genet 1998; 53: 323-330.
15. The scripts used in the pilot as well as the word list may be accessed and downloaded at http://baserv.uci.kun.nl/ ∼mvanstee/pilot.htm
16. Online Mendelian Inheritance in Man. URL: http:/ /www.ncbi.nlm.nih.gov/omim
17. Mouse Genome Database. URL: http://www.informatics.jax.org/mgd.html
18. Transgenic/Targeted mutation database. URL: http:/tbase-.jax.org/
19. Thor S, Ericson J, Brannstrom T, Edlund T: The homeodomain LIM protein Isl-1 is expressed in subsets of neurons and endocrine cells in the adult rat. Neuron 1991; 7: 881-889.
20. Avela K, Pihko H, Santavuori P, Talim B: Assignment of the muscle-eye-brain (MEB) disease gene to 1p32 by linkage analysis. Am J Hum Genet 1998; 63(S): A285.
21. Hutton JC, Christofori G, Chi WY et al: Molecular cloning of mouse pancreatic islet R-cadherin: differential expression in endocrine and exocrine tissue. Mol Endocrinol 1993; 7: 1151-1160.
22. Takeichi M, Inuzuka H, Shimamura K, Matsunaga M, Nose A: Cadherin-mediated cell-cell adhesion and neurogenesis. Neurosci Res 1990; 13 (Suppl): S92-96.
23. Dunn NR, Winnier G, Hargett LK, Schrick JJ, Fogo AB, Hogan BLM: Haploinsufficient phenotypes in bmp4 heterozygous null mice and modification by mutations in gli3 and alx4. Dev Biol 1997; 188: 235-247.
24. Thornton CM, Magee AC, Thomas PS, Feakins R, Nevin NC, O'Hara MD: Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. Paediatr Pathol 1994; 14: 797-803.
25. Carlton MB, Colledge WH, Evans MJ: Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus. Dev Dyn 1998; 212: 242-249.
26. Qu SH, Tucker SC, Ehrlich JS et al. Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. Development 1998; 125: 2711-2721.
27. Johnson JR, Tabin C: Molecular models for verebtrate limb development. Cell 1997; 90: 979-990.
28. Opitz JM, Johnson RC, McCreadie SR, Smith DW: The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Ser 1969; 5(2): 161-166.
29. Budd PS, Jackson IJ: Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles. Genomics 1995; 29: 35-43.
30. Tassabehji M, Newton VE, Read AP: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994; 8: 251-255.
31. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM: Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol 1998; 7: 17-20.
32. Cross HE, McKusick VA, Breen W: A new oculocerebral syndrome with hypopigmentation. J Pediatr 1967; 70: 398-406.
33. Stephenson DA, Mercola M, Anderson E et al: Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation. Proc Natl Acad Sci USA 1991; 88: 6-10.
34. Payne J, Shibasaki F, Mercola M: Spina bifida occulta in homozygous Patch mouse embryos. Dev Dyn 1997; 209: 105-116.
35. Edwards MJ, McDonald D, Moore P, Rae J: Scalp-ear-nipple syndrome: additional manifestations. Am J Med Genet 1994; 50: 247-250.
36. Van Genderen C, Okamura RM, Farinas I et al: Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice. Genes Dev 1994; 8: 2691-2703.
37. Moon RT, Brown JD, Torres M: WNTs modulate cell fate and behavior during vertebrate development. Trends Genet 1997; 13: 157-162.
38. Kohlhase J, Wischermann A, Reichenbach H et al: Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998; 18: 81-83.
39. Bard JBL, Kaufman MH, Dubreuil C et al: An internet-accessible database of mouse developmental anatomy based on a systematic nomenclature. Mech Dev 1998; 74: 111-120.
40. Wallis DE, Roessler E, Hehr U et al: Missense mutations in the homeodomain of SIX3 are associated with holoprosencephaly. Am J Hum Genet 1998; 63S: A27.