research Biology and Genetics of Hair
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.
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research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
research Congenital hair loss disorders: Rare, but not too rare
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.
research Recent advances in congenital ichthyoses
This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
research Molecular Genetics of Alopecias
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.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
research Dysfunction of keratinocyte adhesion
This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.
research Intercellular junctions in normal epidermis
This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.
research Hair Loss in Autoimmune Cutaneous Bullous Disorders
This review discusses the association between scarring alopecia and inflammatory processes in common acquired bullous disorders of the scalp, and reports no new clinical findings.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
research 피부 발육과정에서 데스모콜린 1의 발현에 관한 면역조직화학적 연구
In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.
research 14-3-3σ Is Required for Club Hair Retention
This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
research LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development
This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
research Melatonin induces a stimulatory action on the scrotal skin components of Soay ram in the non-breeding season
In this study, melatonin administration enhanced various cellular and structural features of the scrotal skin in Soay rams, including increased thickness, cell count, and gland activity.
research PA05 A rare case of cardiocutaneous syndrome in a young child
In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
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 Desmosomes in Developing Human Epidermis
This review discusses the development of human skin with a focus on desmosomes, noting the challenges of translating animal model findings to humans due to species differences and limited human sample access.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Genetics of Structural Hair Disorders
This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
research A Monoclonal Antibody Established from the Immunization of Basal Cell Carcinoma (BCC) Tissues Reacts to the Intercellular Space of BCC and Hair Follicles
This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
research Formation of the cornified envelope
This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
research The Cytology and Cytochemistry of the Wool Follicle
This chapter reviews the complexity of hair and wool follicle formation, emphasizing the importance of cytological studies to understand the relationship between cellular components.
research Regulation of Hair Shedding by the Type 3 IP3 Receptor
This study found that mice lacking the type 3 IP(3) receptor in their hair follicles experienced repetitive hair loss and regrowth, indicating disrupted hair-cycle regulation potentially linked to specific signaling pathways.
research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function
This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
research A desmosomal cadherin controls multipotent hair follicle stem cell quiescence and orchestrates regeneration through adhesion signaling
In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.