research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
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210-240 / 1000+ results research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Regulation of Tmem30b-mediated apical membrane homeostasis in auditory outer hair cells is critical for hearing
Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
research Erythromelanosis Follicularis Faciei et Colli: A Case Report
Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles
The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research 17β-Estradiol Increases APE1/Ref-1 Secretion in Vascular Endothelial Cells and Ovariectomized Mice: Involvement of Calcium-Dependent Exosome Pathway
17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Immunohistochemical localization of fatty acid transporters and MCT1 in the sebaceous glands of mouse skin
Sebaceous glands help study fatty acid transporters and binding proteins.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research 270 A novel small compound HPH-15 antagonizes TGF-β/Smad signaling and ameliorates experimental skin fibrosis
HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
research New Drugs: Eculizumab
Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Eccrine sweat glands associate with the human hair follicle within a defined compartment of dermal white adipose tissue
Sweat glands and hair follicles are structurally connected within a specific layer of skin fat.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research 361 p120-catenin regulates epidermal inflammation in a cadherin-dependent manner
p120-catenin helps control skin inflammation by regulating cadherin levels.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.