Literature DB >> 24514002

New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis.

Jinghua Yin1, Guiwen Xu2, Huijun Wang3, Jiahui Zhao1, Lina Duo3, Xu Cao3, Zhanli Tang4, Zhimiao Lin5, Yong Yang6.   

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Year:  2014        PMID： 24514002     DOI： 10.1038/jid.2014.80

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  10 in total

1.  The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.

Authors:  Richard M Silverman; Erin E Cummings; Linda P O'Reilly; Mark T Miedel; Gary A Silverman; Cliff J Luke; David H Perlmutter; Stephen C Pak
Journal:  Genetics       Date:  2015-03-18       Impact factor: 4.562

2.  Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Authors:  Zhimiao Lin; Jiahui Zhao; Daniela Nitoiu; Claire A Scott; Vincent Plagnol; Frances J D Smith; Neil J Wilson; Christian Cole; Mary E Schwartz; W H Irwin McLean; Huijun Wang; Cheng Feng; Lina Duo; Eray Yihui Zhou; Yali Ren; Lanlan Dai; Yulan Chen; Jianguo Zhang; Xun Xu; Edel A O'Toole; David P Kelsell; Yong Yang
Journal:  Am J Hum Genet       Date:  2015-02-12       Impact factor: 11.025

3.  Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Authors:  Manuela Pigors; Ofer Sarig; Lisa Heinz; Vincent Plagnol; Judith Fischer; Janan Mohamad; Natalia Malchin; Shefali Rajpopat; Monia Kharfi; Giles G Lestringant; Eli Sprecher; David P Kelsell; Diana C Blaydon
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

4.  Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study.

Authors:  Yue Li; Xia Yu; Chaolan Pan; Yumeng Wang; Jianwen Han; Zhirong Yao; Ming Li
Journal:  Acta Derm Venereol       Date:  2021-02-11       Impact factor: 3.875

5.  The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Authors:  Yanan Cao; Lin Li; Min Xu; Zhimin Feng; Xiaohui Sun; Jieli Lu; Yu Xu; Peina Du; Tiange Wang; Ruying Hu; Zhen Ye; Lixin Shi; Xulei Tang; Li Yan; Zhengnan Gao; Gang Chen; Yinfei Zhang; Lulu Chen; Guang Ning; Yufang Bi; Weiqing Wang
Journal:  Cell Res       Date:  2020-04-30       Impact factor: 25.617

Review 6.  Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.

Authors:  Chao Huang; Yali Yang; Xingyu Huang; Zongke Zhou
Journal:  Biomed Res Int       Date:  2021-01-27       Impact factor: 3.411

7.  Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.

Authors:  Chankiat Songsantiphap; Jirat Suwanwatana; Chupong Ittiwut; Pravit Asawanonda; Pawinee Rerknimitr; Vorasuk Shotelersuk
Journal:  Case Rep Dermatol       Date:  2020-11-17

8.  Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.

Authors:  Tong Xiao; Yan Liu; Tian Wang; Junru Ren; Yumin Xia; Xiaopeng Wang
Journal:  J Dermatol       Date:  2022-02-17       Impact factor: 3.468

Review 9.  Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Authors:  Bjorn R Thomas; Edel A O'Toole
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

10.  Nagashima-type palmoplantar keratosis in a Chinese Han population.

Authors:  Jia Zhang; Guolong Zhang; Cheng Ni; Ruhong Cheng; Jianying Liang; Ming Li; Zhirong Yao
Journal:  Mol Med Rep       Date:  2016-09-21       Impact factor: 2.952
  10 in total

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