15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
March 2022 in “Journal of cosmetic dermatology” In this case study, a 6-year-old child with autosomal recessive woolly hair showed significant hair growth and sustained improvement with a 4-year combination treatment of botanical extracts, though the precise mechanisms need further research.
September 2016 in “Journal of dermatological science” This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” 194 citations
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November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
91 citations
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July 2020 in “JAMA Dermatology” This study suggests that minoxidil may improve hypotrichosis in patients with ARWH due to LIPH variants, but a possible genetic factor could affect its efficacy within families.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
49 citations
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November 2021 in “Annual review of pathology” This review discusses the regulatory roles of lysophospholipids like LPA and S1P in diseases such as fibrosis, neuropathic pain, and cancer, but reports no new clinical results.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
9 citations
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January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
5 citations
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July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
1 citations
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February 2009 in “Journal of Investigative Dermatology” This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.