research Progenitor cells expressing nestin, a neural crest stem cell marker, differentiate into outer root sheath keratinocytes
Nestin-expressing progenitor cells become outer root sheath keratinocytes.
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390-420 / 1000+ resultsresearch T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Expression patterns of three estrogen receptor genes during zebrafish (Danio rerio) development: evidence for high expression in neuromasts
The three estrogen receptor genes are highly expressed in zebrafish neuromasts during development.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
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 Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research DIAGNOSTYKA, ETIOLOGIA, EPIDEMIOLOGIA I LECZENIE GUZÓW REGIONU GŁOWY I SZYI U DZIECI I MŁODZIEŻY
Rhabdomyosarcoma is the most common head and neck cancer in children, requiring complex treatment.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research Secondary Neoplasm Arising in Nevus Sebaceus of Jadassohn: A Case Report Emphasizing Early Recognition and Evaluation
Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Deregulated expression of E2F1 induces hyperplasia and cooperates with ras in skin tumor development
Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
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 Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research 1418 Characterization of ectomesenchyme as an origin of epidermal stem cells
Ectomesenchyme is a key source of skin stem cells.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.