research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
Search
for
Sort by
Research
30 / 548 results 
research Caspases in Life and Death: Their Role in Head Formation
Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
research 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 Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research The Importance of Basonuclin 2 in Adult Mice and Its Relation to Basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research Dermatoscopy of Hair Shaft Disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Retinoids
Retinoids are effective for skin conditions like severe acne and psoriasis but must be used with caution due to potential side effects and risks during pregnancy.
research Early Inductive Events in Ectodermal Appendage Morphogenesis
Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
research Pathways to Inflammation: Acne Pathophysiology
Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
research Pharmacologic Modulation of Sebaceous Gland Activity: Mechanisms and Clinical Applications
The document concludes that new treatments are needed to better manage acne and reduce side effects related to current therapies.
research Dermatological Medications and Local Therapeutics During Pregnancy
Use some skin medications with caution during pregnancy; avoid strong steroids, certain eczema treatments, and systemic retinoids, but many topical treatments and nasal sprays are safe.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Hirsutism Due to Bilateral Leydig Cell Tumors
A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
research Triptolide Shows Strong Efficacy and Safe Profile in Topical Treatment of Actinic Keratosis Lesions in UV-B-Induced Mouse Model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research Influence of Bovine Milk Oligosaccharides on Sebocyte Lipid Content and Inflammatory Mediators
Cow milk sugars increase fat production and inflammation in skin oil cells.
research Molecular Network of Smads and Id2 Genes in Hair Follicle Stem Cells Regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Hair Follicle Bulb Developed as 3D Scaffold-Free Microtissue
Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
research Antioxidants and Mitochondrial Bioenergetics: Charnoly Bodies in Neurodegenerative Diseases, Cardiovascular Disorders, and Cancer
Antioxidants may help improve mitochondrial health and could be used to treat diseases related to cell damage.
research Society for Pediatric Dermatology
The meeting covered new findings in children's skin conditions and treatments, including the benefits of super absorbent polymer diapers.
research Ionizing Radiation Triggers Dedifferentiation of Outer Root Sheath Cells Into Stem Cell-Like Progenitors for Hair Follicle Regeneration
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Zinc and Zinc Transporters in Dermatology
Zinc is crucial for skin health and treating various skin disorders.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.