Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
暂无分享,去创建一个
Hiroshi Shimizu | Takahiro Hamada | Takashi Hashimoto | Amy S Paller | H. Shimizu | J. McGrath | A. Paller | M. Erdal | T. Hashimoto | M. Seishima | M. Paradisi | P. Lenane | A. South | T. Hamada | V. Wessagowit | Andrew P South | Kanokvalai Kulthanan | John A McGrath | Vesarat Wessagowit | Mauro Paradisi | Devinder M Thappa | Ien Chan | Mariko Seishima | Gabrielle H S Ashton | Noritaka Oyama | Apatorn Siriwattana | Prachiya Jewhasuchin | Somyot Charuwichitratana | Balasubramanian Jeevankumar | Patsy Lenane | Bernice Krafchik | Tamer I Kaya | Mehmet E Erdal | N. Oyama | I. Chan | K. Kulthanan | T. Kaya | B. Krafchik | D. Thappa | B. Jeevankumar | G. Ashton | S. Charuwichitratana | Apatorn Siriwattana | Prachiya Jewhasuchin | Bernice R. Krafchik
[1] J. Uitto,et al. Expression of basement membrane zone genes coding for type IV procollagen and laminin by human skin fibroblasts in vitro: elevated alpha 1 (IV) collagen mRNA levels in lipoid proteinosis. , 1988, The Journal of investigative dermatology.
[2] P. Feng,et al. Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro. , 2001, Bone.
[3] D. Huylebroeck,et al. Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. , 2000, Journal of Investigative Dermatology.
[4] J. Cervós-Navarro,et al. Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study. , 1987, Clinical neuropathology.
[5] F. Gao,et al. Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells. , 2001, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[6] J. R. McMillan,et al. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. , 1999, The Journal of investigative dermatology.
[7] J. Ring,et al. Two ceramide subfractions detectable in Cer(AS) position by HPTLC in skin surface lipids of non-lesional skin of atopic eczema. , 1999, The Journal of investigative dermatology.
[8] P. Feng,et al. The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization. , 1997, Genomics.
[9] Shimizu,et al. Protean manifestations of lipoid proteinosis in a 16‐year‐old boy , 2000, Clinical and experimental dermatology.
[10] R. Mathews,et al. Radiographic and computed tomographic findings in lipid proteinosis. A case report. , 1984, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.
[11] P. Disdier,et al. Specific xerostomia during Urbach-Wiethe disease. , 1994, Dermatology.
[12] A. Dehejia,et al. Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. , 1997, Matrix biology : journal of the International Society for Matrix Biology.
[13] C. Petit,et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. , 1997, Human molecular genetics.
[14] C. Kozak,et al. Molecular Cloning, Characterization, and Genetic Mapping of the cDNA Coding for a Novel Secretory Protein of Mouse. DEMONSTRATION OF ALTERNATIVE SPLICING IN SKIN AND CARTILAGE (*) , 1995, The Journal of Biological Chemistry.
[15] A. Lazaris,et al. Lipoid proteinosis of the oral mucosa: case report and review of the literature. , 1998, Pathology, research and practice.
[16] H. Cunliffe,et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. , 1997, American journal of human genetics.
[17] M. Ramsay,et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). , 2002, Human molecular genetics.
[18] U. Tursen,et al. A life‐threatening exacerbation of lipoid proteinosis , 2002, Journal of the European Academy of Dermatology and Venereology : JEADV.
[19] D J Prockop,et al. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[20] Hofer Pa. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. , 1973 .