Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (workshop II)

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 2062-2067

  Wright, J Timothy ^a   Morris, Clark ^a   Clements, Suzanne E ^b   D'Souza, Rena ^c   Gaide, Olivier ^d   Mikkola, Marja ^e   Zonana, Jonathan ^f  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c BAYLOR COLLEGE OF DENTISTRY   (United States)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e UNIVERSITY OF HELSINKI   (Finland)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Classification; Ectodermaldysplasia; Genetic; Molecular

Indexed keywords

CONFERENCE PAPER; DISEASE CLASSIFICATION; ECTODERMAL DYSPLASIA; GENE EXPRESSION; GENE MUTATION; GENETIC PROCEDURES; GENOME; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; MOLECULAR BIOLOGY; PRIORITY JOURNAL;

ECTODERMAL DYSPLASIA; ECTODYSPLASINS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KERATINS; MOLECULAR BIOLOGY; MUTATION; PROTEINS; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 69249086187     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32869     Document Type: Conference Paper

References (19)

1. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. 2007. Mutation inWNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia. Am J Hum Genet 81:821-828. (Pubitemid 47596549)
2. Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. 2007. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81:1050-1056. (Pubitemid 47580256)
3. Freire-Maia N, Pinheiro M. 1984. Ectodermal dysplasias: A clinical and genetic study. New York: Alan R Liss, Inc. p. 251.
4. Gaide O, Schneider P. 2003. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 9:614-618. (Pubitemid 36597109)
5. Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. 2007. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 39:833-835. (Pubitemid 47014490)
6. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho- Kere U, de la Chapelle A, Schlessinger D. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416. (Pubitemid 26256613)
7. Lamartine J. 2003. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 28:351-355. (Pubitemid 36801833)
8. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG,Hamel BC, van Bokhoven H. 2001. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10:221-229. (Pubitemid 32123980)
9. Miller FA, Begbie ME, Giacomini M, Ahern C, Harvey EA. 2006. Redefining disease? The nosologic implications of molecular genetic knowledge. Perspect Biol Med 49:99-114. (Pubitemid 43227816)
10. MonrealAW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. 1999. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 22:366-369. (Pubitemid 29369528)
11. OMIM. 2008. Online Mendelian Inheritance in Man, World Wide Web URL Version. http://www.ncbi.nlm.nih.gov/omim/. (Baltimore, MD, Bethesda, MD: Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine).
12. Priolo M, Lagana C. 2001. Ectodermal dysplasias: A new clinical-genetic classification. J Med Genet 38:579-585. (Pubitemid 32835619)
13. Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. 2008. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet 17:1968-1977. (Pubitemid 351865845)
14. Robin NH, Biesecker LG. 2001. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-293.
15. Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. 2002. The NF-kappaB signalling pathway inhuman diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11:2371-2375. (Pubitemid 35174700)
16. Srivastava AK, Durmowicz MC, Hartung AJ, Hudson J, Ouzts LV, Donovan DM, Cui CY, Schlessinger D. 2001. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum Mol Genet 10:2973-2981. (Pubitemid 34083483)
17. Superti-Furga A, Unger S. 2007. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet Part A 143A:1-18. (Pubitemid 46051466)
18. Thomason HA, Dixon MJ, Dixon J. 2008. Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling. Dev Biol 321:273-282.
19. Yamashiro T, Zheng L, Shitaku Y, Saito M, Tsubakimoto T, Takada K, Takano-Yamamoto T, Thesleff I. 2007. Wnt10a regulates dentin sialophosphoprotein mRNA expression and possibly links odontoblast differentiation and tooth morphogenesis. Differentiation 75:452-462. (Pubitemid 46802154)