Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
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/hypotrichosis caused by LIPH mutations: a case report.
Xie Y et al.
Frontiers in Medicine, 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
Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.
Ye Y et al.
Frontiers in Medicine, 2025
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 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
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 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
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 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
Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
Tahara U et al.
The Journal of Dermatology, 2020
Identification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5.
Saito T 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
Quantitative image analysis for hereditary hair disorders.
Ramot Y
The British Journal of Dermatology, 2017
Journey toward unraveling the molecular basis of hereditary hair disorders.
Shimomura Y
Journal of Dermatological Science, 2016
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair.
Matsuo Y et al.
The Journal of Dermatology, 2016
Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia.
Mitsukawa N et al.
The Journal of Dermatology, 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
A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis.
Yoshizawa M et al.
Journal of Dermatological Science, 2013
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
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
A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.
Hamada K et al.
European Journal of Dermatology : Ejd, 0