research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
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720-750 / 1000+ resultsresearch Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Cutaneous Manifestations of COVID-19: A Brief Review of a Possible Diagnostic Tool
Skin symptoms could help in early COVID-19 diagnosis but more research is needed to confirm their reliability.
research Impact of estrogens in males and androgens in females
Both estrogens and androgens are important for health in both males and females.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Atopic diseases and the risk of alopecia areata among pre-teens and teenagers in Taiwan
Children with atopic diseases have a higher risk of developing alopecia areata.
research Collagen Involvement in Health, Disease, and Medicine
Collagen is crucial for health and treating certain diseases, and supplements can improve skin, nails, and hair conditions.
research Pharmacological inhibition of 5α-reductase in androgenetic alopecia: a comparative narrative review of finasteride and dutasteride, with attention to responder heterogeneity and female pattern hair loss
Finasteride and dutasteride effectively treat hair loss, with dutasteride showing slightly better results.
research Pharmacological inhibition of 5α-reductase in androgenetic alopecia: a comparative narrative review of finasteride and dutasteride, with attention to responder heterogeneity and female pattern hair loss
Finasteride and dutasteride effectively treat hair loss, with dutasteride showing slightly better results.
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research Issue Information
The document highlights advancements and findings in dermatology, including AI use, disease prevention, treatment efficacy, and the impact of conditions on patients' lives.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
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 The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
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 The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
research Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance
Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
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.