ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.-论文-万方医学网

第一作者： Marwa,Chourabi

第一单位： Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.

作者： Marwa,Chourabi ^[1] ; Mei Shan,Liew ^[2] ; Shawn,Lim ^[2] ; Dorra,H'mida-Ben Brahim ^[3] ; Lobna,Boussofara ^[4] ; Liang,Dai ^[2] ; Pui Mun,Wong ^[5] ; Jia Nee,Foo ^[6] ; Badreddine,Sriha ^[7] ; Kim Samirah,Robinson ^[8] ; Simon,Denil ^[8] ; John Ea,Common ^[9] ; Ons,Mamaï ^[10] ; Youcef,Ben Khalifa ^[11] ; Mathieu,Bollen ^[12] ; Jianjun,Liu ^[6] ; Mohamed,Denguezli ^[4] ; Carine,Bonnard ^[5] ; Ali,Saad ^[3] ; Bruno,Reversade ^[13]

作者单位： Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. ^[1] L'Oréal Research & Innovation, Singapore, Singapore. ^[2] Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. ^[3] Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia. ^[4] Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. ^[5] Genome Institute of Singapore, A*STAR, Singapore, Singapore. ^[6] Department of Pathological Anatomy and Cytology, Farhat Hached University Hospital, Sousse, Tunisia. ^[7] Laboratory of Epithelial Biology, Institute of Medical Biology, A*STAR, Singapore, Singapore. ^[8] Laboratory of Skin Barrier, Institute of Medical Biology, A*STAR, Singapore, Singapore. ^[9] Helen Diller Comprehensive Cancer Center, University of California, San Francisco, California, USA. ^[10] L'Oréal Research & Innovation, Paris, France. ^[11] Laboratory of Biosignaling and Therapeutics, Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium. ^[12] Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address: bruno@reversade.com. ^[13]

主题词活组织检查(Biopsy);半胱氨酸(Cysteine);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);成纤维细胞(Fibroblasts);生殖细胞系突变(Germ-Line Mutation);HEK293细胞(HEK293 Cells);纯合子(Homozygote);人类(Humans);色素沉着不足(Hypopigmentation);角蛋白细胞(Keratinocytes);皮肤角化病, 掌跖(Keratoderma, Palmoplantar);男(雄)性(Male);黑素类(Melanins);黑素细胞(Melanocytes);系谱(Pedigree);磷酸二酯水解酶类(Phosphoric Diester Hydrolases);焦磷酸酶类(Pyrophosphatases);疾病严重程度指数(Severity of Illness Index);皮肤(Skin)

DOI 10.1016/j.jid.2017.08.045

PMID 28964717

发布时间 2022-12-07

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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

The Journal of investigative dermatology

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The Journal of investigative dermatology

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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

The Journal of investigative dermatology

相似文献

The Journal of investigative dermatology

相关期刊

检索历史清除