research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
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90-120 / 1000+ resultsresearch 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Edar Signaling in the Control of Hair Follicle Development
Edar signaling is crucial for proper hair follicle development and function.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Eph/ephrin signaling in epidermal differentiation and disease
Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research A transient dermal niche and dual epidermal programs underlie sweat gland development
Sweat gland development involves two unique skin cell programs and a temporary skin environment.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Proteomics Characterization of Primary Human Oral Epithelial Cells Using a Novel Culture Technique for Use in Tissue Regeneration
ePUKs could be valuable for regenerative medicine due to their wound healing abilities.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Epoxy Fatty Acids and Inhibition of the Soluble Epoxide Hydrolase Selectively Modulate GABA Mediated Neurotransmission to Delay Onset of Seizures
EETs can delay seizures by affecting GABA activity, offering potential new treatments for seizures.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Erythroid Differentiation Regulator 1 as a Novel Biomarker for Hair Loss Disorders
Erdr1 could be a new marker for diagnosing hair loss.
research Salivary gland function in persons with ectodermal dysplasias
People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research [Purification of recombinant fusion polypeptide hEGF-AWRK6 and effect on wound healing and infection of burn model mice].
EK significantly improved wound healing and reduced infection in burn wounds.
research Epimorphin and Epithelial Morphogenesis
Epimorphin helps shape and develop epithelial cells, like those in hair follicles.
research AcD : A Novel Bioactive Polymer Scaffold of Adipose‐Derived Stem Cells Combining With Decellularized Extracellular Matrix in Tissue Engineering
AcD scaffolds improve tissue repair and regeneration by combining stem cells with a supportive matrix.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole‐body energy expenditure
Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research A Keratinocyte-specific Epoxygenase, CYP2B12, Metabolizes Arachidonic Acid with Unusual Selectivity, Producing a Single Major Epoxyeicosatrienoic Acid
CYP2B12 enzyme in skin cells converts arachidonic acid into specific bioactive lipids.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.