research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
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360-390 / 1000+ resultsresearch Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
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 Frontal Cicatricial Alopecia: An Unusual Complication of Otoplasty
Otoplasty can cause permanent hair loss if bandages are too tight.
research Hair tourniquet syndrome in an infant
A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Exosome Therapy from Hypoxia-treated Mesenchymal Stem Cells Reduces TNF-α and Increases VEGF Levels in Fluconazole-Induced Alopecia Model
Exosome therapy from treated stem cells may help reduce inflammation and promote hair regrowth in alopecia.
research A RARE FORM OF SUPPURATING AND CICATRIZING DISEASE OF THE SCALP
A rare scalp disease causes hair loss, pus-filled nodules, and scarring.
research Whole Neonatal Cochlear Explants as an In vitro Model
The new method makes it easier to study the whole cochlea from newborn mice and rats in the lab.
research Tratamiento con Exosomas en Alopecia Areata Difusa Refractaria en Paciente Pediátrico: Reporte de Caso
Exosomes helped regrow hair in a 14-year-old with difficult-to-treat alopecia.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Alopecia and crusted scalp in a young boy
Early treatment of scalp infections can prevent permanent hair loss.
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 1418 Characterization of ectomesenchyme as an origin of epidermal stem cells
Ectomesenchyme is a key source of skin stem cells.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Coexistence of giant blue nevus of the scalp with hair loss and alopecia areata
A giant blue nevus on the scalp can cause hair loss and may damage underlying structures.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Glycol Ethers and Neurodevelopment: Investigating the Impact of Prenatal Exposures
Exposure to certain glycol ethers during pregnancy may be linked to lower verbal comprehension in children.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Finasteride inhibits the disease-modifying activity of progesterone in the hippocampus kindling model of epileptogenesis
Finasteride worsens seizures in epilepsy rats and speeds up epileptogenesis in mice.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research An algorithmic approach to scalp reconstructive surgery: maximization of cosmetic and functional outcomes
The approach improves scalp surgery results by tailoring techniques to defect size and location.
research Redefining the “E” in FUE: Excision = Incision + Extraction
The document suggests changing "Follicular Unit Extraction" to "Follicular Unit Excision" to more accurately describe the surgical hair transplant procedure.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
research Exosomes serve as a crucial mediator of epithelial–fibroblast communication during hair follicle morphogenesis in cashmere goats
Exosomes help hair follicle development in cashmere goats.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.