research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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360-390 / 1000+ results 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 Immunohistochemical demonstration of breast‐derived and/or carcinoma‐associated glycoproteins in normal skin appendages and their tumors
Antibodies help identify glycoproteins in normal skin and tumor cells.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 represses root hair formation by inhibiting a specific gene.
research A case of atopic dermatitis with alopecia universalis in a patient treated with abrocitinib
Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Investigation of Glypican-4 and -6 by Infrared Spectral Imaging during the Hair Growth Cycle
Infrared spectral imaging can effectively study protein distribution in hair follicles during hair growth.
research SCAR DUE TO SULFUR MUSTARD GAS ON THIGH WITH CHERRYANGIOMAS, DECREASED HAIR GROWTH AND PIGMENTARYDISORDER: A CASE REPORT
research Trusting your gut: a hairy situation—gastric trichobezoar case report
Consider trichobezoars in young girls with vague symptoms for accurate diagnosis.
research A Signal Based on Spontaneous Reports of Convulsions in Association with Finasteride
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Changes in Expression and Function of Extrasynaptic GABAAReceptors in the Rat Hippocampus during Pregnancy and after Delivery
Pregnancy increases certain GABAA receptors in rat brains, influenced by steroid levels.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research 0480 Upadacitinib monotherapy for treatment of pyoderma gangrenosum: A case series
Upadacitinib effectively treats pyoderma gangrenosum.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Association between digit ratio (2D:4D) and palmaris longus muscle agenesis according to gender: a radiological study
Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
research 증례 : Gefitinib에 의해 유발된 반흔성 탈모증
Gefitinib can cause rare scarring hair loss.
research Autophagy and Premature Graying of Hair: The Role of LC3 as a Biomarker in a Case-Control Study
Increased LC3 gene expression may be linked to premature graying of hair.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Erosive pustular dermatosis of the scalp induced by gefitinib: case and review of the literature
An 84-year-old man developed a rare scalp condition from a cancer drug but continued treatment as it was otherwise well tolerated.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.
DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.