research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
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840-870 / 1000+ resultsresearch Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
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 [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research [Complete loss of hair; treatment with intravenous calcium with vitamin C].
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Chemotherapy-Induced Alopecia
Scalp cooling might reduce hair loss from chemotherapy, but evidence is weak and other treatments are being tested.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research β-catenin Activity in the Dermal Papilla Regulates Morphogenesis and Regeneration of Hair
β-catenin in the dermal papilla is crucial for normal hair growth and repair.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Pulse cyclophospamide in severe lupus nephritis: Southern Indian experience
IV cyclophosphamide effectively treated severe lupus nephritis in Indian patients, but longer follow-up is needed.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research CHRONIC TELOGEN EFFLUVIUM
Chronic Telogen Effluvium is a hair loss condition in middle-aged women that usually doesn't lead to complete baldness.
research 361 p120-catenin regulates epidermal inflammation in a cadherin-dependent manner
p120-catenin helps control skin inflammation by regulating cadherin levels.
research Fatal Toxic Epidermal Necrolysis Associated With Cetuximab in a Patient With Colon Cancer
A cancer patient died from a severe skin reaction after taking the drug cetuximab.
research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
research CircAGK regulates high dihydrotestosterone‐induced apoptosis in DPCs through the miR‐3180‐5p/BAX axis
CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research PROTECTION AGAINST CYTOSINE ARABINOSIDE-INDUCED ALOPECIA BY MINOXIDIL IN A RAT ANIMAL MODEL
Minoxidil helps prevent hair loss from chemotherapy in rats.
research Therapeutic Potentiality of Celtis choseniana Nakai on Androgenic Alopecia through Repression of Androgen Action and Modulation of Wnt/β-catenin Signaling
Celtis choseniana may help treat hair loss by reducing androgen effects and boosting hair growth signals.
research SINDROMA CUSHING PADA KEHAMILAN
A pregnant woman with Cushing Syndrome got worse and sadly passed away.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research AUTOIMMUNE CICATRICIAL ALOPECIA AND THE ROLE OF TRICHOSCOPY IN ITS DIAGNOSIS: A LITERATURE REVIEW
Trichoscopy is essential for diagnosing and treating autoimmune cicatricial alopecia early.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.