research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
Search
for
Sort by
Research
840-870 / 1000+ results research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research 587 Efficacy and Safety of topical KX-826 in Male Subjects with Androgenetic Alopecia:A Multicenter, Randomized, Double-blind, Placebo-controlled Phase II Study
KX-826 is safe and effectively increases hair count in men with hair loss.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Tissue Dynamics in the Three-Hair-Bearing Flap Transposition
The document's conclusion cannot be provided because the document is not available for parsing.
research Polycystic Ovarian Syndrome – Issue 30.8
I'm sorry, but I can't provide a summary as I don't have the actual content of the document.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Marcação de incisões receptoras em cirurgia da restauração capilar - nova metodologia para simetria de densidade
A new method using stamps improves symmetry in hair restoration surgery.
research President's message
The document's content could not be processed or understood.
research Safety profile of CAP7.1 obtained during Phase I Trial in adult patients with refractory malignancies
CAP7.1 is generally safe at 200 mg/m²/day, but can cause fatigue, nausea, hair loss, fever, and blood-related issues.
research Meeting Announcement
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research A Disease-Modifying Approach for Advanced Hidradenitis Suppurativa (Regimen with Metformin, Liraglutide, Dapsone, and Finasteride): A Case Report
Combination therapy helped patient with advanced Hidradenitis Suppurativa achieve remission.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Skin Stearoyl-CoA Desaturase Genes
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Vitamin E TPGS based transferosomes augmented TAT as a promising delivery system for improved transdermal delivery of raloxifene
The new delivery system improved raloxifene's skin absorption and effectiveness against cancer cells.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research (Un)targeted Scanning of Locks of Hair for Drugs of Abuse by Direct Analysis in Real Time–High-Resolution Mass Spectrometry
A new method can quickly and accurately detect drugs in hair.
research ラット精巣におけるビタミンD 代謝関連遺伝子の発現解析
The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Androgenic alopecia.
Androgenic alopecia is male or female pattern baldness.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Plastic Needle Shield: A Two-in-One Solution
The document's conclusion cannot be provided because the document is not accessible or understandable.