research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
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600-630 / 1000+ resultsresearch Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research Postnatal determinants of testicular germ cell tumor by histological subtypes: The EPSAM1 and EPSAM2 studies
Childhood and adult height, and early immune-related hospitalizations increase testicular cancer risk, while baldness, larger families, and sports reduce it.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Comparison of Activities Dependent on Glutathione S-Transferase and Cytochrome P-450 IA1 in Cultured Keratinocytes and Reconstructed Epidermal Models
Reconstructed skin models are useful for studying how skin processes certain chemicals.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Visual Diagnosis
A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Hypertrichosis around a leg ulcer being treated with prostaglandin E1 ointment
A woman's excessive hair growth around a leg ulcer was linked to a treatment with Prostaglandin E1 ointment.
research “Arrow” sign: A rapid microscopic diagnosis of hair change associated with epidermal growth factor receptor inhibitors
A new method quickly detects hair changes from EGFR inhibitors using a microscope.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research Spontaneous Lesions of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research LITERATURE REVIEW
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Novel acquisitions on the immunoprotective roles of the EGF receptor in the skin
EGF receptor is crucial for skin health and its inhibitors can cause skin rashes.
research Erlotinib-induced trichomegaly of eyelashes in lung cancer treatment: Epidermal growth factor receptor inhibitor side effect
Erlotinib can cause excessive eyelash growth.
research Östrogen-induzierte Gynäkomastie nach Anwendung östrogenhaltiger Lokaltherapeutika
Estrogen treatments can cause unwanted effects in men and should be used cautiously.
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 035 Expansion of bacterial phosphatidylglycerol reactive CD4+ T cells in atopic dermatitis
People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Rationale and design of the GLADE study: a randomized, multicenter, double-blind, placebo-controlled trial evaluating the safety and efficacy of gestrinone subdermal bioabsorbable pellet in endometriosis-related pelvic pain
Gestrinone pellets may help reduce pelvic pain in endometriosis safely.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research PSS35 COST COMPARISON OF PATIENTS WITH CHRONIC HAND ECZEMA COVERED BY STATUTORY VS. OCCUPATIONAL HEALTH INSURANCES IN GERMANY
Treating chronic hand eczema costs about the same in statutory and occupational health insurances in Germany, but work-related cases may lead to higher indirect costs due to longer work absences.
research Dermatological aspects of gender affirming medical treatment in transgender and gender diverse people: A systematic review
Transgender individuals may face specific skin issues during gender-affirming treatments, needing personalized care.