Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
Alwunais K et al.
Dermatology Reports, 2025
Molecular Basis of Hereditary Hair Diseases.
Shimomura Y
The Keio Journal of Medicine, 2025
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
Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.
Cui C et al.
Clinical, Cosmetic and Investigational Dermatology, 2025
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis.
Ishida Y et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient.
Minakawa S et al.
Frontiers in Medicine, 2024
Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.
Yamaguchi N et al.
The Journal of Dermatology, 2023
In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis.
Khan HA et al.
Pharmaceuticals (basel, Switzerland), 2023
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Update of recent findings in genetic hair disorders.
Hayashi R et al.
The Journal of Dermatology, 2022
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
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.
Asano N et al.
The Journal of Dermatology, 2019
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.
Mizukami Y et al.
The Journal of Dermatology, 2018
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
Chang XD et al.
Mutagenesis, 2017
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis.
Itoh E et al.
The Journal of Dermatology, 2017
Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.
Takeichi T et al.
The British Journal of Dermatology, 2017
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
Kinoshita-Ise M et al.
The British Journal of Dermatology, 2017
Journey toward unraveling the molecular basis of hereditary hair disorders.
Shimomura Y
Journal of Dermatological Science, 2016
Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations.
Tanahashi K et al.
The British Journal of Dermatology, 2015
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
Ito T et al.
The Journal of Dermatology, 2015
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
Hayashi R et al.
The Journal of Dermatology, 2014
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.
Hayashi R et al.
The Journal of Dermatology, 2014
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Tanahashi K et al.
Plos One, 2014
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
Tanahashi K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.
Matsuno N et al.
Case Reports in Dermatology, 2013
Two cases of autosomal recessive woolly hair with LIPH gene mutations.
Harada K et al.
International Journal of Dermatology, 2013
The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.
Shinkuma S et al.
The Journal of Investigative Dermatology, 2012
Congenital hair loss disorders: rare, but not too rare.
Shimomura Y
The Journal of Dermatology, 2012
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
Yoshimasu T et al.
The Journal of 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
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
Shimomura Y et al.
Journal of Dermatological Science, 2009