1.Expression of HGF/c-met in the hair follicle growth cycle in mice
Xiuju YU ; Shuyuan GAO ; Jiaqi CHENG ; Bingling ZHAO ; Xiaoyan HE ; Changsheng DONG
Acta Laboratorium Animalis Scientia Sinica 2015;(4):406-409
Objective HGF and its receptor ( c-met) are principal mediators of mesenchymal-epithelial interac-tion in several different systems.Moreover, hair follicle is a model of mesenchymal-epithelial interaction.The aim of this study was to explore whether HGF/c-met signal plays a role in the control of hair follicle growth cycle.Methods To ex-amine the localization of HGF/c-met in anagen, catagen and telogen in the hair follicle of ICR mice.Results HGF was mainly located in the dermal papilla and sebaceous gland, and c-Met in the hair matrix, root sheath and epidermis.Both HGF and c-met expressions peaked during anagen, not found in catagen, and increased during telogen-anagen phase.Con-clusions Our results demonstrate a regulatory role of HGF and c-met in the control of hair follicle growth in ICR mice.
2.Cerebral cavernous hemangioma in a family with mutation p.L436fs in KRIT1 gene
Chunyan CAO ; Junqiang YAN ; Qizhi FU ; Xiuju GAO ; Ganqin DU ; Huifang PENG ; Mengjie JIA
Chinese Journal of Neurology 2021;54(10):1009-1018
Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.