research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research The probable destructive mechanisms behind COVID-19 on male reproduction system and fertility
COVID-19 may harm male fertility and damage the reproductive system.
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 P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Syndecan-1 Is Required to Maintain Intradermal Fat and Prevent Cold Stress
Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
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 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 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research 477 Dietary fat- and obesity-sensitive dermal adipocyte PKCβ induction and inflammation cross-talk
Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research 479 Transcriptomics identifies potential novel therapeutic targets in androgenetic alopecia
Found new possible treatments for hair loss.
research Caracterização e diferenciação neural in vitro de células-tronco de polpa de dente decíduo humano
Dental pulp stem cells might not reliably become neurons.
research Disruption of Smad4 in Mouse Epidermis Leads to Depletion of Follicle Stem Cells
Disrupting Smad4 in mouse skin causes early hair follicle stem cell activity that leads to their eventual depletion.
research Progress and prospects: gene therapy for performance and appearance enhancement
Gene therapy shows promise for enhancing physical traits but faces ethical, safety, and regulatory challenges.
research SlPHL1 , a MYB‐CC transcription factor identified from tomato, positively regulates the phosphate starvation response
SIPHL1 from tomato enhances plants' response to low phosphate levels.
research Anticytokine therapy, particularly anti-IFN-γ, in Th1-mediated autoimmune diseases
Blocking interferon-gamma might help treat various autoimmune diseases.
research Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
A new system helps better diagnose and treat female androgenization conditions like PCOS.
research Anorexia Nervosa and Bulimia Nervosa
Anorexia Nervosa and Bulimia Nervosa are complex eating disorders with increasing incidence among young females, significant morbidity, and varying mortality rates, requiring more research for better treatment.
research The regenerative wound healing effects and molecular mechanism of Isaria cicadae Miquel rice fermentation extract
Isaria cicadae Miquel rice fermentation extract helps heal wounds and regenerate hair follicles.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research Overexpression of Nanog in amniotic fluid–derived mesenchymal stem cells accelerates dermal papilla cell activity and promotes hair follicle regeneration
Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
research The dental needs of children with Epidermolysis Bullosa and service delivery: a scoping review
Children with Epidermolysis Bullosa need better access to specialized dental care.
research Follicular Map: A Novel Approach to Quantitative Trichoscopy
The new Follicular Map method could help assess hair treatment effectiveness but has some limitations.