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Article

The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.

The Journal of investigative dermatology - 1 Aug 2012

Shinkuma Satoru, Inoue Asuka, Aoki Junken, Nishie Wataru, Natsuga Ken, Ujiie Hideyuki, Nomura Toshifumi, Abe Riichiro, Akiyama Masashi, Shimizu Hiroshi

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22475755
DOI: 10.1038/jid.2012.96

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The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.PMID 22475755Read ↗

A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis.Semantic proximity Read ↗

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.Semantic proximity Read ↗

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.Semantic proximity Read ↗

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.Semantic proximity Read ↗

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.Semantic proximity Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.Semantic proximity Read ↗

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.Semantic proximity Read ↗

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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.Semantic proximity Read ↗

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