research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
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480-510 / 1000+ resultsresearch Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Idiopathic CD4+ T-lymphocytopenia
ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody–drug conjugate in breast cancer
Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
research Regeneration of a bioengineered 3D integumentary organ system from iPS cells
Scientists created a functional 3D skin system from stem cells that can be transplanted into wounds.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research Enzyme‐Instructed Self‐Assembly for Cellular Supramolecular Chemistry
EISA uses enzymes to create precise nanostructures in cells, offering new ways to design adaptive materials and therapies.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Cutaneous Adverse Drug Reactions (CADRs) to COVID19 vaccines: A case series
COVID-19 vaccines can cause mild to moderate skin reactions, mostly after the first dose.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research co-sponsored by the international society of hair restoration surgery: Live Surgery Workshop XI: Advancing the Industry of Hair Restoration. March 2–5, 2005 orlando
research Dermoscopy to the rescue
Dermoscopy helps accurately diagnose and treat benign skin cysts.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Subject Index Vol. 210, 2005
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Prevention of developmental delays among children at public healthcare facilities of Pakistan: protocol for a cluster Randomized Controlled Trial
The document outlines a plan to test if certain methods can prevent developmental delays in children at Pakistani public healthcare centers.
research PERAN SUPLEMENTASI VITAMIN D PADA TATA LAKSANA SARKOIDOSIS KUTIS
Vitamin D supplements should be used cautiously in sarcoidosis patients, with regular monitoring to avoid high calcium levels.
research G2 stem cells orchestrate time-directed, long-range coordination of calcium signaling during skin epidermal regeneration
G2 stem cells control calcium signaling for skin regeneration.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Preparation and Evaluation of Self-emulsifying Drug Delivery System (SEDDS) of Cepharanthine
research Translucent Voices: Creating Sound Pedagogy And Safe Spaces For Transgender Singers In The Choral Rehearsal
Create safe, inclusive choir spaces for transgender singers with supportive language and programming.
research A Systematic Review of the Potential Role of Cinnamomum spp. in Modulating Insulin Sensitivity and Hyperandrogenism in Polycystic Ovary Syndrome (PCOS)
Cinnamon may help improve insulin sensitivity in women with PCOS.
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research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research Hidradenitis Suppurativa in Children and Adolescents: A Review of Treatment Options
More pediatric-specific research and guidelines are needed to improve hidradenitis suppurativa treatment in children and adolescents.
research Non‐invasive instrumental examinations of cutaneous, adnexal and mucosal manifestations after SARS‐COV‐2 infection in adult and children
Skin and mucosal issues can occur after COVID-19 in adults and children.