Three‐base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease
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M. Akiyama | H. Shimizu | M. Ishii | I. Kurokawa | H. Kobayashi | D. Tsuruta | N. Mizuno | J. Sowa | H. Imanishi | A. Ishida‐Yamamoto
[1] Hiroshi Suzuki,et al. Comprehensive Analysis of Expression and Function of 51 Sarco(endo)plasmic Reticulum Ca2+-ATPase Mutants Associated with Darier Disease* , 2006, Journal of Biological Chemistry.
[2] R. Anadolu,et al. Comedonal, cornifying and hypertrophic Darier's disease in the same patient: A Darier combination , 2006, The Journal of dermatology.
[3] X. Zhang,et al. Genetic heterogeneity in acrokeratosis verruciformis of Hopf , 2006, Clinical and experimental dermatology.
[4] A. Hovnanian,et al. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. , 2003, The Journal of investigative dermatology.
[5] S. Bale,et al. Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation , 2001, Experimental dermatology.
[6] T. Strachan,et al. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. , 1999, Human molecular genetics.
[7] A. Hovnanian,et al. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. , 1999, Human molecular genetics.
[8] N. Craddock,et al. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. , 1999, Human molecular genetics.
[9] N. Craddock,et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease , 1999, Nature Genetics.
[10] D. Bikle,et al. Decrease of Ca2+‐ATPase activity in human keratinocytes during calcium‐induced differentiation , 1997, Journal of cellular physiology.
[11] M. Nagashima,et al. A rare presentation of acantholytic dyskeratosis , 1995, The British journal of dermatology.
[12] H. Ohta,et al. Detection of K-ras mutations in DNAs isolated from feces of patients with colorectal tumors by mutant-allele-specific amplification (MASA). , 1995, Oncogene.
[13] E. Derrick,et al. Comedonal Darier's disease , 1995, The British journal of dermatology.
[14] J. Meldolesi,et al. Molecular and cellular physiology of intracellular calcium stores. , 1994, Physiological reviews.
[15] M. Berridge,et al. The role of endoplasmic reticulum calcium pumps during cytosolic calcium spiking in pancreatic acinar cells. , 1993, The Journal of biological chemistry.
[16] J. Wilkinson,et al. Darier-White disease: a review of the clinical features in 163 patients. , 1992, Journal of the American Academy of Dermatology.
[17] P. Hutchinson,et al. Darier's disease with peri‐follicular depigmentation , 1989, The British journal of dermatology.
[18] N. Green,et al. Amino-acid sequence of a Ca2+ + Mg2+ -dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence , 1985, Nature.
[19] N. Green,et al. Amino-acid sequence of a Ca2++Mg2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence , 1985, Nature.
[20] K. Kraemer,et al. Cornifying Darier disease--a unique variant. I. Report of a case. , 1976, Archives of dermatology.