Molecular Genetics of Human Hair Diseases
June 2008
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Research cited in this study
34 / 34 resultsresearch 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 Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
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.
research Connexin 30, A New Marker Of Hyperproliferative Epidermis
This study reported no Cx30 expression in normal interfollicular human epidermis and minimal expression in some skin structures, with faint detection in porokeratosis of Mibelli patient skin.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
research Characterization and Isolation of Stem Cell-Enriched Human Hair Follicle Bulge Cells
This study found that bulge cells marked by CD200+ in human hair follicles show high colony-forming efficiency, suggesting successful enrichment of keratinocyte stem cells.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix
This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research Keratins of the Human Hair Follicle
More research is needed to understand how hair keratins work and their role in hair disorders.
research Molecular Principles of Hair Follicle Induction and Morphogenesis
This review introduces the morphological and molecular principles of hair follicle development but reports no new experimental results, focusing on recent insights and forming a working hypothesis.
research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis
This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
research Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed
In this study, researchers identified the ventral matrix as the primary source of nail plate formation, while the dorsal portion is generated by the apical matrix.
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling
This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
research Stimulation of Ectodermal Organ Development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
research Molecular Mechanisms Regulating Hair Follicle Development
This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.
research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor
This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
research The Catalog of Human Hair Keratins
This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.
research Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells
This study demonstrated that multipotent stem cells in adult mice whisker follicles migrate to produce whisker growth, and that this process requires precise control of stem cell trafficking.
research Involvement of Follicular Stem Cells in Forming Not Only the Follicle but Also the Epidermis
In this study, researchers found that hair follicle stem cells in mice can generate both hair follicle and epidermis cells, highlighting their potential bipotency.
research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders
This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.
research Forkhead/Winged-Helix Transcription Factor Whn Regulates Hair Keratin Gene Expression: Molecular Analysis of the Nude Skin Phenotype
This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
research Whn and mHa3 Are Components of the Genetic Hierarchy Controlling Hair Follicle Differentiation
Whn is crucial for hair growth in certain areas by controlling a specific gene.
research The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation
This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
research The Catalog of Human Hair Keratins
This study establishes a catalog of human type I hair keratins and identifies their specific roles and expression patterns during hair differentiation and growth in scalp follicles.
research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene
This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
TCDD changes skin gene expression and may harm skin health.
research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
Related Research
4 / 4 results
research A Review of Hair Anatomy and Animal Models for Alopecia
This review examines the anatomy and physiology of hair, focusing on the hair growth cycle and various types of alopecia, using animal models such as mice and rats to study the condition's pathophysiology and aid in developing new treatments.
research Electron Paramagnetic Resonance Spectroscopy for Investigating Murine Telogen Skin After Spontaneous or Depilation-Induced Hair Growth
This research found that spontaneous and depilation-induced hair growth result in biologically distinct telogen phases in murine skin, with variations in thickness, pigment content, and hair follicle composition.
research Cyclic Alopecia in Msx2 Mutants: Defects in Hair Cycling and Hair Shaft Differentiation
In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
research Congenital Hypotrichosis Due to Short Anagen Phase
This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.