research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
Search
for
Sort by
Research
720-750 / 1000+ results research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Epigenetics and Other Autoimmune Skin Diseases
Epigenetic changes contribute to autoimmune skin diseases.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Sequential Morphologic and Clinicopathologic Alterations in Dogs with Experimentally Induced Glucocorticoid Hepatopathy
Glucocorticoid use in dogs quickly causes liver changes and Cushing's syndrome symptoms.
research Genotoxic Agents: An Unexpected Effect on Healthy Epithelia
Chemotherapy drugs can cause abnormal growth and changes in healthy skin and gland cells.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome
Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research SLE classification criteria item relationships: implications on SLE as a disease entity
SLE is likely one disease with various symptoms, not multiple distinct diseases.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Glucocorticoid corticosteroids for Duchenne muscular dystrophy
Glucocorticoid corticosteroids improve muscle strength in Duchenne muscular dystrophy but can cause side effects.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research ALOPECIA LEPROTICA: ITS RELATIONSHIP TO TRANSMISSION OF LEPROSY
Leprosy is mainly contracted during infancy or childhood.
research Epidermal cyst containing numerous spherules of keratin
The cyst had unusual keratin spherules and resembled bone marrow.
research Clinical presentation and management outcome of childhood-onset systemic lupus erythamatosus in Baghdad.
Most children with childhood-onset lupus in Baghdad responded well to treatment, but some developed chronic kidney disease or died.
research Chemical Leukoderma from Hair Dye Containing para-Phenylenediamine
Hair dye with para-phenylenediamine can cause skin depigmentation.
research Topical therapy and skin care for transplant‐associated atopic dermatitis in children and adolescents
Topical treatments and skin care improve transplant-related atopic dermatitis in children.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Lenalidomide Augments Differentiation of Cultured Hair Follicle Derived Melanocyte Stem Cells Into Functional Melanocytes
Lenalidomide helps hair follicle stem cells turn into melanocytes, which may improve repigmentation in vitiligo.
research Inherited disorders of the skin in human and mouse: from development to differentiation.
Research on skin disorders in humans and mice has improved understanding of hair and skin development.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research Benign Cutaneous Eruptions After Transplantation
Transplant patients often get skin problems, with treatments varying by condition.
research Involvement of the bulge region with decreased expression of hair follicle stem cell markers in senile female cases of alopecia areata
Decreased CD200 in hair follicles may cause immune issues in some alopecia areata cases.
research Μελέτη της έκφρασης των δεικτών πολυδυναμικότητας στις ιδιοπαθείς φλεγμονώδεις νόσους του εντέρου
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research A Case of Linear Alopecia of the Scalp
Treatment with methotrexate and prednisolone led to complete hair regrowth and no relapse for 2 years.