Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Yanagida K et al.
Human Molecular Genetics, 2023
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.
Khan GM et al.
International Journal of Dermatology, 2019
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).
Abbas S et al.
Iranian Journal of Basic Medical Sciences, 2014
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.
Raza SI et al.
Plos One, 2014
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.
Kurban M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Khan S et al.
Clinical and Experimental Dermatology, 2011
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
Tariq M et al.
The British Journal of Dermatology, 2009
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Shimomura Y et al.
Experimental Dermatology, 2009
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Azeem Z et al.
Human Genetics, 2008
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.
Azhar A et al.
European Journal of Dermatology : Ejd, 0
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