-
1
-
-
0028127041
-
Ectodermal dysplasias: A clinical classification and a causal review
-
Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994 53 : 153 62.
-
(1994)
Am J Med Genet
, vol.53
, pp. 153-62
-
-
Pinheiro, M.1
Freire-Maia, N.2
-
2
-
-
9344250077
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
-
Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996 13 : 409 16.
-
(1996)
Nat Genet
, vol.13
, pp. 409-16
-
-
Kere, J.1
Srivastava, A.K.2
Montonen, O.3
-
3
-
-
0032231350
-
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
-
Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 1998 63 : 380 9.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 380-9
-
-
Monreal, A.W.1
Zonana, J.2
Ferguson, B.3
-
4
-
-
0032811085
-
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
-
Monreal AW, Ferguson BM, Headon DJ et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999 22 : 366 9.
-
(1999)
Nat Genet
, vol.22
, pp. 366-9
-
-
Monreal, A.W.1
Ferguson, B.M.2
Headon, D.J.3
-
5
-
-
4644360646
-
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene
-
Shimomura Y, Sato N, Miyashita A et al. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. J Invest Dermatol 2004 123 : 649 55.
-
(2004)
J Invest Dermatol
, vol.123
, pp. 649-55
-
-
Shimomura, Y.1
Sato, N.2
Miyashita, A.3
-
6
-
-
0035924366
-
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
-
Headon DJ, Emmal SA, Ferguson BM et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001 414 : 913 16.
-
(2001)
Nature
, vol.414
, pp. 913-16
-
-
Headon, D.J.1
Emmal, S.A.2
Ferguson, B.M.3
-
7
-
-
0034981134
-
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
-
Vincent MC, Biancalana V, Ginisty D et al. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001 9 : 355 63.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 355-63
-
-
Vincent, M.C.1
Biancalana, V.2
Ginisty, D.3
-
8
-
-
0035320883
-
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
-
Paakkonen K, Cambiaghi S, Novelli G et al. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 2001 17 : 349.
-
(2001)
Hum Mutat
, vol.17
, pp. 349
-
-
Paakkonen, K.1
Cambiaghi, S.2
Novelli, G.3
-
9
-
-
4644221510
-
Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene
-
Bashyam MD, Bashyam L, Savithri GR et al. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. J Hum Genet 2004 49 : 408 13.
-
(2004)
J Hum Genet
, vol.49
, pp. 408-13
-
-
Bashyam, M.D.1
Bashyam, L.2
Savithri, G.R.3
-
10
-
-
0035379554
-
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
-
Schneider P, Street SL, Gaide O et al. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 2001 276 : 18819 27.
-
(2001)
J Biol Chem
, vol.276
, pp. 18819-27
-
-
Schneider, P.1
Street, S.L.2
Gaide, O.3
-
11
-
-
0035964342
-
Electrostatics of nanosystems application to microtubules and the ribosome
-
Baker NA, Sept D, Joseph S et al. Electrostatics of nanosystems application to microtubules and the ribosome. Proc Natl Acad Sci USA 2001 98 : 10037 41.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 10037-41
-
-
Baker, N.A.1
Sept, D.2
Joseph, S.3
-
12
-
-
0031473847
-
SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
-
Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997 18 : 2714 23.
-
(1997)
Electrophoresis
, vol.18
, pp. 2714-23
-
-
Guex, N.1
Peitsch, M.C.2
-
13
-
-
0033761628
-
Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors
-
Yan M, Wang LC, Hymowitz SG et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 2001 290 : 523 7.
-
(2001)
Science
, vol.290
, pp. 523-7
-
-
Yan, M.1
Wang, L.C.2
Hymowitz, S.G.3
-
14
-
-
0344665611
-
The crystal structures of EDA-A1 and EDA-A2: Splice variants with distinct receptor specificity
-
Hymowitz SG, Compaan DM, Yan M et al. The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity. Structure 2003 11 : 1513 20.
-
(2003)
Structure
, vol.11
, pp. 1513-20
-
-
Hymowitz, S.G.1
Compaan, D.M.2
Yan, M.3
-
15
-
-
0033005418
-
The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain
-
Copley RR. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain. J Mol Med 1999 77 : 361 3.
-
(1999)
J Mol Med
, vol.77
, pp. 361-3
-
-
Copley, R.R.1
-
16
-
-
22944475319
-
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia
-
Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol 2005 153 : 46 50.
-
(2005)
Br J Dermatol
, vol.153
, pp. 46-50
-
-
Naeem, M.1
Muhammad, D.2
Ahmad, W.3
-
17
-
-
33645225908
-
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
-
Chassaing N, Bourthoumieu S, Cossee M et al. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 2006 27 : 255 9.
-
(2006)
Hum Mutat
, vol.27
, pp. 255-9
-
-
Chassaing, N.1
Bourthoumieu, S.2
Cossee, M.3
-
18
-
-
0742323558
-
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
-
Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004 5 : 89 99.
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 89-99
-
-
Maquat, L.E.1
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