CTSC基因中的新型复合杂合突变导致伴有高血清免疫球蛋白E的掌跖角化牙周破坏综合征。 - Suppr

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

作者信息

Li Zhiming, Liu Jingjing, Fang Shan, Zhu Haigang, Zhang Xueqi, Cai Jianfeng, Li Bingxu, Xu Yunsheng

机构信息

Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.

出版信息

J Dermatol Sci. 2014 Dec;76(3):258-60. doi: 10.1016/j.jdermsci.2014.09.009. Epub 2014 Oct 8.

DOI:10.1016/j.jdermsci.2014.09.009

PMID:25450092

Abstract

摘要

相似文献

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

J Dermatol Sci. 2014 Dec;76(3):258-60. doi: 10.1016/j.jdermsci.2014.09.009. Epub 2014 Oct 8.

High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C.

J Dermatol. 2012 Jul;39(7):664-5. doi: 10.1111/j.1346-8138.2011.01474.x. Epub 2012 Jan 6.

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.

Hum Mutat. 2002 Jul;20(1):75. doi: 10.1002/humu.9040.

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

Hum Mutat. 2001 Feb;17(2):152-3. doi: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#.

Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement.

Br J Dermatol. 2009 Apr;160(4):881-3. doi: 10.1111/j.1365-2133.2008.08878.x. Epub 2008 Oct 20.

Long-term change of disease behavior in Papillon-Lefèvre syndrome: seven years follow-up.

Eur J Med Genet. 2015 Mar;58(3):184-7. doi: 10.1016/j.ejmg.2014.12.003. Epub 2014 Dec 11.

Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.

Gene. 2014 Mar 15;538(1):182-7. doi: 10.1016/j.gene.2013.11.079. Epub 2013 Dec 26.

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

J Invest Dermatol. 2001 Dec;117(6):1657-61. doi: 10.1046/j.0022-202x.2001.01595.x.

Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.

J Dent Res. 2007 Aug;86(8):735-8. doi: 10.1177/154405910708600809.

A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.

J Periodontol. 2002 Mar;73(3):307-12. doi: 10.1902/jop.2002.73.3.307.

引用本文的文献

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

J Transl Med. 2024 Aug 20;22(1):777. doi: 10.1186/s12967-024-05589-7.

A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Clin Exp Dent Res. 2021 Aug;7(4):568-573. doi: 10.1002/cre2.387. Epub 2021 Feb 14.

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相似文献

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

J Dermatol Sci. 2014 Dec;76(3):258-60. doi: 10.1016/j.jdermsci.2014.09.009. Epub 2014 Oct 8.

High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C.

J Dermatol. 2012 Jul;39(7):664-5. doi: 10.1111/j.1346-8138.2011.01474.x. Epub 2012 Jan 6.

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.

Hum Mutat. 2002 Jul;20(1):75. doi: 10.1002/humu.9040.

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

Hum Mutat. 2001 Feb;17(2):152-3. doi: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#.

Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement.

Br J Dermatol. 2009 Apr;160(4):881-3. doi: 10.1111/j.1365-2133.2008.08878.x. Epub 2008 Oct 20.

Long-term change of disease behavior in Papillon-Lefèvre syndrome: seven years follow-up.

Eur J Med Genet. 2015 Mar;58(3):184-7. doi: 10.1016/j.ejmg.2014.12.003. Epub 2014 Dec 11.

Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.

Gene. 2014 Mar 15;538(1):182-7. doi: 10.1016/j.gene.2013.11.079. Epub 2013 Dec 26.

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

J Invest Dermatol. 2001 Dec;117(6):1657-61. doi: 10.1046/j.0022-202x.2001.01595.x.

Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.

J Dent Res. 2007 Aug;86(8):735-8. doi: 10.1177/154405910708600809.

A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.

J Periodontol. 2002 Mar;73(3):307-12. doi: 10.1902/jop.2002.73.3.307.

引用本文的文献

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

J Transl Med. 2024 Aug 20;22(1):777. doi: 10.1186/s12967-024-05589-7.

A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Clin Exp Dent Res. 2021 Aug;7(4):568-573. doi: 10.1002/cre2.387. Epub 2021 Feb 14.

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

作者信息

Li Zhiming, Liu Jingjing, Fang Shan, Zhu Haigang, Zhang Xueqi, Cai Jianfeng, Li Bingxu, Xu Yunsheng

机构信息

Department of Dermatology and Venereology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.

出版信息

J Dermatol Sci. 2014 Dec;76(3):258-60. doi: 10.1016/j.jdermsci.2014.09.009. Epub 2014 Oct 8.

DOI:10.1016/j.jdermsci.2014.09.009

PMID:25450092

Abstract

摘要

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

作者信息

机构信息

出版信息

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引用本文的文献

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Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

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