SCOPUS 정보 검색 플랫폼

Volumn 10, Issue 8, 2001, Pages 875-880

Mutations in the gene encoding SLURP-1 in Mal de Meleda

(13) Fischer, Judith a Bouadjar, Bakar b Heilig, Roland c Huber, Marcel d Lefèvre, Caroline a Jobard, Florence a Macari, Françoise d Bakija Konsuo, Ana e Ait Belkacem, Farid f Weissenbach, Jean c Lathrop, Mark a Hohl, Daniel d Prud'homme, Jean François g

a CENTRE NATIONAL DE GÉNOTYPAGE (France)

b Bab El Oued Hospital (Algeria)

c CENTRE NATIONAL DE SÉQUENÇAGE (France)

d LAUSANNE UNIVERSITY HOSPITAL (Switzerland)

e Dubrovnik General Hospital (Croatia)

f CHU Mustapha (Algeria)

g GÉNÉTHON (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARS PROTEIN; CARDIOTOXIN; CYTOTOXIN; GENE PRODUCT; LYMPHOCYTE ANTIGEN; NEUROTOXIN; RECEPTOR PROTEIN; SLURP 1 PROTEIN; TOXIN; UNCLASSIFIED DRUG; UROKINASE; VENOM;

ADULT; ALGERIA; AMINO ACID COMPOSITION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYDACTYLY; CELL ACTIVATION; CELL ADHESION; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; CROATIA; ERYTHEMA; FAMILY; FETUS; FOUNDER EFFECT; FROG; GENE CLUSTER; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATOSIS; KERATOSIS PALMOPLANTARIS; MAL DE MELEDA; MOUSE; MOUTH; NAIL DISEASE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION; PRIORITY JOURNAL; PROTEIN FAMILY; SIGNAL TRANSDUCTION; SKIN BIOPSY; SNAKE;

ANURA; SERPENTES;

EID: 0035311667 PISSN: 09646906 EISSN: None Source Type: Journal
DOI: 10.1093/hmg/10.8.875 Document Type: Article

Times cited : (178)

References (24)

1
- 0033020064
- The palmoplantar keratodermas: Much more than palms and soles
- (1999) Mol. Med. Today , vol.5 , pp. 107-113
- Kelsell, D.P.¹ Stevens, H.P.²

2
- 0032709548
- Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
- (1999) Nature Genet. , vol.23 , pp. 421-424
- Toomes, C.¹ James, J.² Wood, A.J.³ Wu, C.L.⁴ McCormick, D.⁵ Lench, N.⁶ Hewitt, C.⁷ Moynihan, L.⁸ Roberts, E.⁹ Woods, C.G.¹⁰

3
- 0034326902
- Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
- (2000) Hum. Mol. Genet. , vol.9 , pp. 2761-2766
- Norgett, E.E.¹ Hatsell, S.J.² Carvajal-Huerta, L.³ Ruiz Cabezas, J.C.⁴ Common, J.⁵ Purkis, P.E.⁶ Whittock, N.⁷ Leigh, I.M.⁸ Stevens, H.P.⁹ Kelsell, D.P.¹⁰

4
- 0032435195
- Genetic linkage of Meleda disease to chromosome 8qter
- (1998) Eur. J. Hum. Genet. , vol.6 , pp. 542-547
- Fischer, J.¹ Bouadjar, B.² Heilig, R.³ Fizames, C.⁴ Prud'homme, J.F.⁵ Weissenbach, J.⁶

5
- 0032891247
- Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly6/uPAR protein superfamily
- (1999) Protein Sci. , vol.8 , pp. 810-819
- Adermann, K.¹ Wattler, F.² Wattler, S.³ Heine, G.⁴ Meyer, M.⁵ Forssmann, W.G.⁶ Nehls, M.⁷

6
- 0029081326
- Tissue expression, structure and function of the murine Ly-6 family of molecules
- (1995) Immunol. Cell Biol. , vol.73 , pp. 277-296
- Gumley, T.P.¹ McKenzie, I.F.C.² Sandrin, M.S.³

7
- 0029075456
- The human E48 antigen, highly homologous with the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion
- (1995) J. Cell Biol. , vol.129 , pp. 1677-1689
- Brakenhoff, R.H.¹ Gerretsen, M.² Knippels, E.M.C.³ van Dijk, M.⁴ van Essen, H.⁵ Weghuis, D.O.⁶ Sinke, R.J.⁷ Snow, G.B.⁸ van Dongen, G.A.M.S.⁹

8
- 0031149240
- Genomic structure and chromosomal localization of GML (GPI-anchored molecule-like protein), a gene induced by p53
- (1997) Genomics , vol.41 , pp. 477-480
- Kimura, Y.¹ Furuhata, T.² Urano, T.³ Hirata, K.⁴ Nakamura, Y.⁵ Tokino, T.⁶

9
- 13144250150
- Prostate stem cell antigen: A cell surface marker overexpressed in prostate cancer
- (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 1735-1740
- Reiter, R.E.¹ Gu, Z.² Watabe, T.³ Thomas, G.⁴ Szigeti, K.⁵ Davis, E.⁶ Wahl, M.⁷ Nisitani, S.⁸ Yamashiro, J.⁹ Le Beau, M.M.¹⁰

10
- 0027217194
- Localisation of the disulfide bonds in the NH2-terminal domain of the cellular receptor for human urokinase-type plasminogen activator. A domain structure belonging to a novel superfamily of glycolipid-anchored membrane proteins
- (1993) J. Biol. Chem. , vol.268 , pp. 17539-17546
- Ploug, M.¹ Kjalke, M.² Ronne, E.³ Weidle, U.⁴ Hoyer-Hansen, G.⁵ Dano, K.⁶

11
- 0027330864
- Sequence-specific 1H-NMR assignments and folding topology of human CD59
- (1993) Protein Sci. , vol.12 , pp. 2015-2027
- Fletcher, C.M.¹ Harrison, R.A.² Lachmann, P.J.³ Neuhaus, D.⁴

12
- 0031573150
- A gain of novel tissue specificity in the human Ly-6 gene E48
- (1997) J. Immunol. , vol.159 , pp. 4879-4886
- Brakenhoff, R.H.¹ van Dijk, M.² Knippels, E.M.C.³ Snow, G.B.⁴

13
- 0025938230
- Evidence for a role of monoclonal antibody E48 defined antigen in cell-cell adhesion in squamous epithelia and head and neck squamous cell carcinoma
- (1991) Exp. Cell Res. , vol.196 , pp. 264-269
- Schrijvers, A.H.G.J.¹ Gerretsen, M.² Fritz, J.M.³ van Walsum, M.⁴ Quak, J.J.⁵ Snow, G.B.⁶ van Dongen, G.A.⁷

14
- 0027163514
- Colocalization of the human CD59 gene to 11p13 with the MIC11 cell surface antigen
- (1993) Genomics , vol.17 , pp. 129-135
- Bickmore, W.A.¹ Longbottom, D.² Oghene, K.³ Fletcher, J.M.⁴ van Heyningen, V.⁵

15
- 15844384861
- RIG-E, a human homolog of the murine Ly-6 family, is induced by retinoic acid during the differentiation of acute promyelocytic leukemia cells
- (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 5910-5914
- Mao, M.¹ Yu, M.² Tong, J.H.³ Ye, J.⁴ Zhu, J.⁵ Huang, O.H.⁶ Fu, G.⁷ Yu, L.⁸ Zhao, S.Y.⁹ Waxman, S.¹⁰

16
- 0034144687
- Ly6d-L, a cell surface ligand for mouse Ly6d
- (2000) Immunity , vol.12 , pp. 223-232
- Apostolopoulos, J.¹ McKenzie, I.F.C.² Sandrin, M.S.³

17
- 0032923759
- Processing of the Notch ligand delta by the metalloprotease Kuzbanian
- (1999) Science , vol.283 , pp. 91-94
- Qi, H.¹ Rand, M.D.² Wu, X.³ Sestan, N.⁴ Wang, W.⁵ Rakic, P.⁶ Xu, T.⁷ Artavanis-Tsakonas, S.⁸

18
- 0033769957
- Clinical and genetic studies of 3 large, consanguineous, Algerian families with mal de Meleda
- (2000) Arch. Dermatol , vol.136 , pp. 1247-1252
- Bouadjar, B.¹ Benmazouzia, S.² Prud'homme, J.F.³ Cure, S.⁴ Fischer, J.⁵

19
- 0021850103
- Multilocus linkage analysis in humans: Detection and estimation of recombination
- (1985) Am. J. Hum. Genet. , vol.37 , pp. 482-498
- Lathrop, G.M.¹ Lalouel, J.M.² Julier, C.³ Ott, J.⁴

20
- 0027978110
- The diastrophic dysplasia gene encodes a novel sulfate transporters positional cloning by fine-structure linkage disequilibrium mapping
- (1994) Cell , vol.78 , pp. 1073-1087
- Hästbacka, J.¹ de la Chapelle, A.² Mahtani, M.M.³ Clines, G.⁴ Reeve-Daly, M.P.⁵ Daly, M.⁶ Hamilton, B.A.⁷ Kusumi, K.⁸ Trivedi, B.⁹ Weaver, A.¹⁰

21
- 0027448693
- Familial Mediterranean fever (FMF) in Moroccan jews: Demonstration of a founder effect by extended haplotype analysis
- (1993) Am. J. Hum. Genet. , vol.53 , pp. 644-651
- Aksentijevich, I.¹ Pras, E.² Gruberg, L.³ Shen, Y.⁴ Holman, K.⁵ Helling, S.⁶ Prosen, L.⁷ Sutherland, G.R.⁸ Richards, R.I.⁹ Dean, M.¹⁰

22
- 0005320450
- Genetic Data Analysis. Sinauer, Sunderland, MA
- (1990)
- Weir, B.S.¹

23
- 0000926583
- Nonradioactive multiplex procedure for genotyping of microsatellite markers
- Adolph, K.W. (ed.), Gene and Chromosome Analysis. Part A, Academic Press, San Diego
- (1993) , vol.1 , pp. 211-221
- Vignal, A.¹ Gyapay, G.² Hazan, J.³ Nguyen, S.⁴ Dupraz, C.⁵ Cheron, N.⁶ Becuwe, N.⁷ Tranchant, M.⁸ Weissenbach, J.⁹

24
- 0030881840
- Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase
- (1997) J. Biol. Chem. , vol.272 , pp. 21018-21026
- Huber, M.¹ Yee, V.C.² Burri, N.³ Vikerfors, E.⁴ Lavrijsen, A.P.⁵ Paller, A.S.⁶ Hohl, D.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.