research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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120-146 / 146 resultsresearch Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Follistatin Promotes LIN28B-Mediated Supporting Cell Reprogramming and Hair Cell Regeneration in the Murine Cochlea
Follistatin and LIN28B together improve the ability of inner ear cells in mice to regenerate into hearing cells.
research Rapamycin But Not Acarbose Decreases Age-Related Loss of Outer Hair Cells in the Mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Reversible Alopecia in Vogt-Koyanagi-Harada Disease and Sympathetic Ophthalmia
Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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 The Need for Speed and Efficiency: A Brief Review of Small Molecule Antivirals for COVID-19
Some small molecule antivirals show promise against COVID-19, but more research is needed to understand and improve them.
research Caffeine Induces Autophagy and Apoptosis in Auditory Hair Cells via the SGK1/HIF-1α Pathway
Caffeine can damage hearing cells and affect hearing recovery after ear trauma.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research The Color of Skin: White Diseases of the Skin, Nails, and Mucosa
The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
research Life-Threatening Macrophage Activation Syndrome as the Initial Presentation of Systemic Lupus Erythematosus: A Case Report and Review of the Literature
Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Fresh Umbilical Cord Blood as a Source of Multipotent Stem Cells: Collection, Banking, Cryopreservation, and Ethical Concerns
Umbilical cord blood is a valuable source of stem cells for medical treatments, but its use is less common than other transplants, and there are ethical issues to consider.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Neuropathic Pruritus: An Underrecognized and Often Misdiagnosed and Difficult to Treat Medical Condition
Neuropathic pruritus is a commonly overlooked and wrongly diagnosed type of chronic itching that is hard to treat.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Hair Loss in Children: A Detailed Overview of Pediatric Alopecia
The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
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 Alopecia Areata: Current Review
Alopecia Areata has no cure, treatments are limited, and the condition often recurs, but new therapies like JAK inhibitors show promise.