research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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120-150 / 1000+ results research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research 577 The role of YAP1 in regeneration of human skin and in pathological states
YAP1 is important for skin regeneration and may affect skin disorder treatments.
research Alleviation of Mechanical Allodynia by 14,15-Epoxyeicosatrienoic Acid in a Central Poststroke Pain Model: Possible Role of Allopregnanolone and δ-Subunit-Containing Gamma-Aminobutyric Acid A Receptors
14,15-EET may help reduce poststroke pain by affecting certain brain proteins.
research Inhibition of 17α-hydroxylase/C17,20 lyase reduces gating deficits consequent to dopaminergic activation
Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
research 44180 Influence of Baseline Disease Severity Defined by Investigator’s Global Assessment on Abrocitinib Efficacy for up to 96 Weeks in Patients With Moderate-to-Severe Atopic Dermatitis: Interim Analysis of JADE EXTEND, a Long-Term Extension Study
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
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.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot
Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
research Vestibular Hair Cell Regeneration and Restoration of Balance Function Induced by Math1 Gene Transfer
Gene therapy with the Math1 gene helped regenerate balance-related cells and improve balance in mice.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Parallels in signaling between development and regeneration in ectodermal organs
research Alk1 acts in non-endothelial VE-cadherin+ perineurial cells to maintain nerve branching during hair homeostasis
Alk1 in specific cells is crucial for proper nerve branching and hair function.
research Exploring the Function of Epicardial Cells Beyond the Surface
The epicardium is vital for heart repair and regeneration, offering potential for new heart disease therapies.
research Ectodysplasin Signaling in Cutaneous Appendage Development: Dose, Duration, and Diversity
Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
research Changes in expression of the neuropeptide Y Y1 receptor gene in the medial amygdala of transgenic mice during pregnancy and after delivery
Pregnancy-related hormone changes affect Y1 receptor gene expression in mice.
research Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia
Inhaled substances in e-cigarettes can cause hormone imbalances similar to congenital adrenal hyperplasia.
research Comparison of the Pathology of Fascia in Eosinophilic Myalgia Syndrome Patients and Idiopathic Eosinophilic Fasciitis
EMS and EF both show similar skin and fascia changes, but EMS has more severe symptoms and nerve inflammation.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.