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Page 1
Acrokeratoelastoidosis.
Hu W, Cook TF, Vicki GJ, Glaser DA. Hu W, et al. Pediatr Dermatol. 2002 Jul-Aug;19(4):320-2. doi: 10.1046/j.1525-1470.2002.00091.x. Pediatr Dermatol. 2002. PMID: 12220276 Review.
Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.
Huang C, Yang Y, Huang X, Zhou Z. Huang C, et al. Biomed Res Int. 2021 Jan 27;2021:8841994. doi: 10.1155/2021/8841994. eCollection 2021. Biomed Res Int. 2021. PMID: 33575348 Free PMC article. Review.
A better understanding of the clinical characteristics and pathogenic gene characterization of NPPK will enhance the diagnosis of NPPK, identify related diseases, and inform on the precise therapy and prognosis. Moreover, it will promote the awareness of NPPK in non-Asian …
A better understanding of the clinical characteristics and pathogenic gene characterization of NPPK will enhance the diagnosis of NPPK, iden …
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Nov;14(5):4049-4054. doi: 10.3892/mmr.2016.5757. Epub 2016 Sep 21. Mol Med Rep. 2016. PMID: 27666198 Free PMC article.
The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. ...
The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screenin …
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
Xue K, Zheng Y, Cui Y. Xue K, et al. J Cosmet Dermatol. 2019 Feb;18(1):371-376. doi: 10.1111/jocd.12533. Epub 2018 Apr 1. J Cosmet Dermatol. 2019. PMID: 29607617
RESULTS: A novel heterozygous missense mutation c.3550 C>T in the coding region of the DSP gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. ...
RESULTS: A novel heterozygous missense mutation c.3550 C>T in the coding region of the DSP gene, predicting substitution of argini …
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.
SERPINB7 was specifically present in the cytoplasm of the stratum granulosum and the stratum corneum (SC) of the epidermis. All of the identified mutants are predicted to cause premature termination upstream of the reactive site, which inhibits the proteases, suggesting a …
SERPINB7 was specifically present in the cytoplasm of the stratum granulosum and the stratum corneum (SC) of the epidermis. All of the ident …
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
Selvaraju V, Markandaya M, Prasad PV, Sathyan P, Sethuraman G, Srivastava SC, Thakker N, Kumar A. Selvaraju V, et al. BMC Med Genet. 2003 Jul 12;4:5. doi: 10.1186/1471-2350-4-5. BMC Med Genet. 2003. PMID: 12857359 Free PMC article.
CONCLUSIONS: This study reported three novel nonsense mutations in three Indian families. These novel nonsense mutations are predicted to produce truncated dipeptidyl-peptidase I causing PLS phenotype in these families. ...
CONCLUSIONS: This study reported three novel nonsense mutations in three Indian families. These novel nonsense mutations are predicted …