research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
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research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Bikunin, a Serine Protease Inhibitor, is Present on the Cell Boundary of Epidermis
Bikunin is found on the cell boundaries of certain skin layers and may help regulate skin and hair functions.
research Hair Loss in Autoimmune Cutaneous Bullous Disorders
Hair loss in autoimmune blistering skin diseases varies and may regrow with disease control.
research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
research Biomechanics of hair fibre growth: A multi-scale modeling approach
The model shows that factors like follicle shape and stiffness are key for hair growth and anchoring.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells.
Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Growth of human hair follicle keratinocytes in vitro
The model successfully grew and differentiated hair follicle cells in the lab.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research No difference in the proteome of racially and geometrically classified scalp hair sample from a South African cohort: Preliminary findings
Hair protein composition is similar across different races and shapes.
research 127 Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy
Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
research A Monoclonal Antibody Established from the Immunization of Basal Cell Carcinoma (BCC) Tissues Reacts to the Intercellular Space of BCC and Hair Follicles
The antibody created from BCC tissues reacts similarly to both BCC and hair follicles, suggesting BCC may come from hair follicle cells.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research 피부 발육과정에서 데스모콜린 1의 발현에 관한 면역조직화학적 연구
Desmocollin 1 helps maintain skin structure during fetal development.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Transcriptome Profiling of Pilosebaceous Units in Male Androgenetic Alopecia Reveals Altered Junctional Networks
Hair loss in male pattern baldness is linked to changes in specific genes and proteins that affect hair growth and scalp health.
research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research A case of cicatricial alopecia associated with pemphigus: a case report
The link between pemphigus and the patient's scarring hair loss is still unclear.
research Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents
Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.