research Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
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840-870 / 1000+ results research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Transgenic rescue of desmoglein 3 null mice with desmoglein 1 to develop a syngeneic mouse model for pemphigus vulgaris
The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Persistently curly hair phenotype with the use of nivolumab for squamous cell lung cancer
A cancer patient's hair became permanently curly after treatment with nivolumab.
research Single-cell transcriptomics defines keratinocyte differentiation in avian scutate scales
The research identified two types of keratinocytes in chicken scales: one for hard scales and another for soft skin, with similarities to human skin differentiation.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research Flightless I Expression Enhances Murine Claw Regeneration Following Digit Amputation
Mice with more Flightless I protein grew back their claws better after amputation.
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.
research A Case of Cronkhite-Canada Syndrome with Telogen Effluvium and Onycholysis
Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research Expression of dermcidin in sebocytes supports a role for sebum in the constitutive innate defense of human skin
Sebum helps protect human skin from microbes.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research 067 BELCOMID: BELgian Cohort study of COVID-19 in Immune Mediated Inflammatory Diseases
COVID-19 infection rates were low in patients with immune diseases, regardless of their treatment type.
research Dissecting cellulitis of the scalp successfully treated with infliximab
Infliximab was effective in treating a scalp condition that did not respond to other treatments.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research CD34 defines melanocyte stem cell subpopulations with distinct regenerative properties
CD34+ and CD34- melanocyte stem cells have different regenerative abilities.
research Sebaceous lipids are essential for water repulsion, protection against UVB-induced apoptosis, and ocular integrity in mice
Sebaceous lipids are crucial for keeping skin and eyes healthy in mice.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research An Uncommon and Severe Clinical Case of Sarcoptes scabiei Infestation in a Cat
A stray cat with severe scabies recovered after 4 weeks of treatment.