research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
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research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
research 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
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.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update
This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
In this case report, a 6-year-old boy with hidrotic ectodermal dysplasia 2 caused by GJB6 mutations showed no significant hair improvement with age, despite treatment with botanical extracts and Minoxidil.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Alopezien und Hypotrichosen im Kindesalter
This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
research Lysophospholipid Mediators in Health and Disease
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.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
research Claves diagnósticas en displasias pilosas II
This review discusses hair shaft disorders, noting the lack of specific treatments and recommending general care practices to prevent hair damage, with some improvement possible during puberty or with treatments like minoxidil.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
research [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II
This review discusses the classification and diagnosis of hair shaft disorders based on fragility and emphasizes preventive care due to the lack of specific treatments.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
research Congenital Atrichia: A Case Report
In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.