research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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120-150 / 1000+ results 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 RNase L represses hair follicle regeneration through altered innate immune signaling
RNase L hinders hair follicle regeneration by altering immune signals.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research The concept of the onychodermis (specialized nail mesenchyme): an embryological assessment and a comparative analysis with the hair follicle
The onychodermis helps anchor the nail bed and may aid in nail formation.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Informational dichotomy of the mind; the role of sexual neuromodulators
Human sexuality involves complex mental processes unique to humans.
research Serotoninergic and melatoninergic systems are fully expressed in human skin
Human skin can make serotonin and melatonin.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Hacia una oscuridad luminosa de las circunstancias
Cornifin-alpha/SPRR1 is increased in certain skin conditions and by specific treatments.
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.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Scleroderma and L-tryptophan: A possible explanation of the eosinophilia-myalgia syndrome
Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Faculty Opinions recommendation of Stem cell niche exit in C. elegans via orientation and segregation of daughter cells by a cryptic cell outside the niche.
Stem cell niche exit in C. elegans is influenced by Sh1 cell membrane protrusions.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research 1446 RNase L acts as a regeneration suppressor
RNase L suppresses regeneration in mammals.
research Nitrogen Mustard Induces DNA Damage and Structural Changes in Mouse Skin Hair Follicles
Nitrogen mustard causes DNA damage and structural changes in mouse skin hair follicles, but some recovery occurs after 5 days.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research Developmentally programmed early-age skin localization of iNKT cells supports local tissue development and homeostasis
iNKT cells help develop and maintain healthy skin in young mice.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Role of MEG3-miRNAs in immune-inflammatory regulation in age-dependent wool follicle remodeling in Tan sheep
MEG3-miRNAs help control wool traits in young Tan sheep by regulating immune responses, but their decline with age leads to wool changes.
research Reviewer #2 (Public Review): Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neurons and Merkel cells remodel at different rates during normal skin maintenance.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.