research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
Search
for
Sort by
Research
930-960 / 1000+ results 
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research An essential role for Rxrα in the development of Th2 responses
RXRα is crucial for proper immune response and links diet to immune function.
research A Localized Rash in a 3-Year-Old Child
The child was diagnosed with a skin condition involving inflamed hair follicles.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Formulation of chloroaluminum phthalocyanine incorporated into PS-b-PAA diblock copolymer nanomicelles
The PS-b-PAA copolymer nanomicelles are effective for delivering a cancer treatment drug in photodynamic therapy.
research PIGMENTATION AND HAIR GROWTH IN BLACK RATS, AS MODIFIED BY THE CHRONIC ADMINISTRATION OF THIOUREA, PHENYL THIOUREA AND ALPHA-NAPHTHYL THIOUREA1
Thiourea compounds affect hair growth and pigmentation in black rats.
research Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
Oral zinc sulphate is an effective and safe treatment for thallium poisoning, especially for skin and hair symptoms.
research Docking-based workflow and ADME prediction of some compounds in Curcuma longa and Andrographis paniculata as polymerase PA-PB1 inhibitors of influenza A/H5N1 virus
Compounds from turmeric and bitter show strong potential as antiviral agents against the influenza A virus.
research Pharmacophore Models for Toxicology Prediction
Pharmacophore models can predict liver toxicity and central nervous system toxicity, but they have limitations and specific requirements.
research Niosomes: A Novel Targeted Drug Delivery System
Niosomes are a promising method for delivering drugs directly to targeted areas in the body.
research Polynucleotides HPT for Asian Skin Regeneration and Rejuvenation
Polynucleotides HPT improves Asian skin tone, firmness, and glow safely.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Understanding the formation mechanism of drug-polymer inclusion complex by structure elucidation and theoretical calculation
The research shows how certain drug molecules form stable structures with polymers, which could help create new drug forms.
research Sterile neutrophilic dermatitis in a cat - a case report
The cat's skin condition improved after stopping drugs and using iodine, confirming it was sterile neutrophilic dermatitis.
research Hypersensitivity reactions to anticoagulant drugs: diagnosis and management options
Allergic reactions to blood thinners are rare but can be serious, requiring careful testing and alternative treatments.
research Structural changes in trichocyte keratin intermediate filaments during keratinization
Keratin structure changes during keratinization, but the exact model remains uncertain.
research Advances in antioxidative nanozymes for treating ischemic stroke
Antioxidative nanozymes could effectively treat ischemic stroke by reducing harmful molecules in the brain.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Photoinduced formation of thiols in human hair
UV exposure damages hair, increasing thiols and altering protein structure.
research Hair Versus Nails: Is There a Place for Other Keratin Matrices?
Nails are a useful alternative to hair for analyzing long-term substance exposure.
research 5 alpha-reductase inhibition by a new synthetic steroid (PM-9) in cultures of Penicillium crustosum.
PM-9, like finasteride, may help treat certain diseases by blocking a key enzyme.
research Monocyclic Aromatic Compounds
Monocyclic aromatic compounds are important for developing various drugs and treatments.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Synthesis of 17β-N-arylcarbamoylandrost-4-en-3-one derivatives and their anti-proliferative effect on human androgen-sensitive LNCaP cell line
Compounds 6f and 6g effectively stop prostate cancer cell growth without harming healthy cells.
research OPTIMIZATION OF NANO GEL FORMULATION BASED ON BANGKAL (NAUCLEA SUBDITA) WOOD BARK EXTRACT AND ANTIBACTERIAL ACTIVITY AGAINST PROPIONIBACTERIUM ACNES
The nanogel with Bangkal bark extract effectively fights acne-causing bacteria.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.