Molecular Genetics of Human Hair Diseases
June 2008
Research cited in this study
30 / 30 resultsresearch Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Connexin 30, A New Marker Of Hyperproliferative Epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Characterization and Isolation of Stem Cell-Enriched Human Hair Follicle Bulge Cells
Researchers successfully isolated and identified key markers of stem cell-enriched human hair follicle bulge cells.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
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 Molecular Principles of Hair Follicle Induction and Morphogenesis
Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
research Keratins of the Human Hair Follicle
research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed
The ventral matrix is the main source of the nail plate.
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
research Molecular Mechanisms Regulating Hair Follicle Development
Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
research The Catalog of Human Hair Keratins
Human hair keratins were cataloged, showing their roles in hair differentiation stages.
research Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells
Adult mouse skin contains stem cells that can create new hair, skin, and oil glands.
research Involvement of Follicular Stem Cells in Forming Not Only the Follicle but Also the Epidermis
Hair follicle stem cells can form both hair follicles and skin.
research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype
Whn is essential for hair growth, and its malfunction causes hair loss.
research Whn and mHa3 are components of the genetic hierarchy controlling hair follicle differentiation
research The Catalog of Human Hair Keratins
Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
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
research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
Related Research
4 / 4 results
research A Review of Hair Anatomy and Animal Models for Alopecia
The paper concludes that animal models help in understanding hair loss causes and developing new treatments.
research Electron Paramagnetic Resonance Spectroscopy for Investigating Murine Telogen Skin After Spontaneous or Depilation-Induced Hair Growth
EPR spectroscopy showed that spontaneous hair growth results in thicker skin and less pigmented hair than depilation-induced growth.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Congenital Hypotrichosis Due to Short Anagen Phase
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.