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Plakophilin 1 in carcinogenesis.
Mol Carcinog
October 2024
Center for Pancreatic Cancer Research, The South China University of Technology School of Medicine, Guangzhou, Guangdong, China.
Plakophilin 1 (PKP1) belongs to the desmosome family as an anchoring junction protein in cellular junctions. It localizes at the interface of the cell membrane and cytoplasm. Although PKP1 is a non-transmembrane protein, it may become associated with the cell membrane via transmembrane proteins such as desmocollins and desmogleins.
View Article and Find Full Text PDFEctodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing.
Indian J Dermatol Venereol Leprol
March 2024
Consultant Dermatologist, Dr Vilas Skin and Hair Center, Banjara Hills, Hyderabad, Telangana, India.
Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation.
J Dtsch Dermatol Ges
April 2021
Pediatric Dermatology Unit, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
[Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome].
Zhonghua Shao Shang Za Zhi
June 2020
Institute of Burns, Tongren Hospital of Wuhan University & Wuhan Third Hospital, Wuhan 430060, China.
On August 6, 2015, a male infant with ectodermal dysplasia/skin fragility syndrome at 6 hours of birth was admitted to the Burn Department of Tongren Hospital of Wuhan University & Wuhan Third Hospital. The ulcerous skin tissue in thoracic area was harvested. The histopathological change of wound tissue was observed with hematoxylin-eosin staining.
View Article and Find Full Text PDFNovel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome.
J Dermatol
July 2020
Department of Dermatology, West China Hospital of Sichuan University, Chengdu, China.
Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare autosomal recessive disease characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. EDSF syndrome is caused by mutations in the PKP1 gene encoding plakophilin-1, which result in desmosomal abnormality and poor intercellular cohesion between epidermal cells. Herein, we report a novel homozygous deletion of the PKP1 gene in a Chinese boy with EDSF syndrome.
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