西亚试剂：γ-Secretase Gene Mutations in Familial Acne Inversa

γ-Secretase Gene Mutations in Familial Acne Inversa
Baoxi Wang1,*, Wei Yang2,*, Wen Wen3,*, Jing Sun2,*, Bin Su1,*, Bo Liu4, Donglai Ma1, Dan Lv2, Yaran Wen2, Tao Qu1, Min Chen5, Miao Sun2, Yan Shen2,4,? and Xue Zhang2,3,?

1Peking Union Medical College Hospital, Chinese Academy of Medical Sciences–Peking Union Medical College (CAMS-PUMC), Beijing, China.
2State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS-PUMC, Beijing, China.
3China Medical University, Shenyang, China.
4Chinese National Human Genome Center at Beijing, Beijing, China.
5Institute of Dermatology, CAMS-PUMC, Nanjing, China.

Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families. We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex. Our results identify the γ-secretase component genes as the culprits for a subset of familial AI, implicate the γ-secretase–Notch pathway in the molecular pathogenesis of AI, and demonstrate that familial AI can be an allelic disorder of early-onset familial Alzheimer’s disease.

• 以上资料由西亚试剂：http://www.xiyashiji.com/ 提供此产品的详细信息如密度,含量,分子式,分子量等均可在西亚官网查询   
• (http://www.xiyam.com,http://www.xiyashiji.com/ )，相关产品如溴化汞硝酸亚汞氯化亚汞乙酸苯汞氯化钾汞 碘化汞钾硫氰酸汞硫酸亚汞氧化汞氯化汞碘化汞硝酸汞三氯氧磷三氯化磷碘甲烷二碘甲烷三碘甲烷三氟碘甲烷氘代碘甲烷碘乙烷1,2-二碘乙烷甲酸铷碘化铷溴化铷铬酸铷硫酸铷氟化铷硝酸铷氯化铷碳酸铷硫酸镱 碳酸镱氯化镱硝酸镱氧化镱等均有销售.欢迎订购