Associated Papers
Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.
Zhang X et al.
Frontiers in Genetics, 2025
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
Akiyama M
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H et al.
The Journal of Dermatology, 2020
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.
Mehmood S et al.
The Australasian Journal of Dermatology, 2015
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
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
Tariq M et al.
Scientific Reports, 2012
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
Shah SH et al.
Jpma. the Journal of the Pakistan Medical Association, 2011
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
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
Shinkuma S et al.
Human Mutation, 2010
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
Pasternack SM et al.
The Journal of Investigative Dermatology, 2009
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
Shimomura Y et al.
Journal of Dermatological Science, 2009
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
Shimomura Y et al.
The Journal of Investigative Dermatology, 2009
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.
Petukhova L et al.
Human Heredity, 2009
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
Mehmood S et al.
Pediatric Dermatology, 0