research Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
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180-210 / 1000+ resultsresearch Valproic acid. A reappraisal of its pharmacological properties and clinical efficacy in epilepsy.
Valproic acid is an effective and safe first-choice treatment for many types of seizures.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Valproic acid in childhood epilepsy: anticonvulsive efficacy in relation to its plasma levels.
Valproic acid is effective for controlling seizures in children, especially as a single treatment, with some side effects.
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 New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
Giant axonal neuropathy changes the structure of keratin in human hair.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research The Association Between Autism Spectrum Disorders and Dietary Intake of Carbohydrates in School‐Aged Children in Iran: A Case–Control Study
Higher sugar and maltose intake is linked to autism, while total carbohydrates, fructose, and lactose are linked to lower autism rates.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Cutaneous Signs of Malnutrition Secondary to Eating Disorders
Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Life Events Preceding Alopecia Areata Onset—a Descriptive Retrospective Cohort Study Focusing on Strain
Strainful life events may significantly trigger alopecia areata.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
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 Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research The ATP sensitive potassium channel (KATP) is a novel target for migraine drug development
Blocking the KATP channel may help treat migraines.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Industry Updates from the Field of Stem Cell Research and Regenerative Medicine in December 2019
Significant progress and collaborations in stem cell research and regenerative medicine were made, including advancements in hair growth, cancer therapies, and treatments for neurological disorders.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Inorganic Nanomaterial for Biomedical Imaging of Brain Diseases
Inorganic nanomaterials can improve brain disease imaging by being more precise and faster than traditional methods.
research Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
research A Review of the Most Common Dermatologic Conditions and their Debilitating Psychosocial Impacts
Common skin conditions can greatly affect a person's mental health and social life.
research Relationship between gut microbiota and osteoarthritis: a scientometric analysis
Modifying gut bacteria may help treat and prevent osteoarthritis.
research Effects of photobiomodulation on multiple health outcomes: an umbrella review of randomized clinical trials
Photobiomodulation may improve certain health conditions, but more high-quality research is needed.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak
Drug repositioning offers a cost-effective, lower-risk way to treat diseases and pandemics like COVID-19.