research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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research Contribution of lipid Peroxidation to Social Behaviors in individuals with autism spectrum disorders
Lipid peroxidation may worsen social behavior issues in autism.
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research 52711 Benefit of a Selenium Disulfide-based shampoo in subjects of any phototype and hair type presenting with dandruff
Selenium disulfide shampoo effectively reduces dandruff and is well-liked by users.
research The role of disulfide bond formation in the structural transition observed in the intermediate filaments of developing hair
Disulfide bonds are crucial for hair structure during keratinization.
research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research Protein S-Palmitoylation as Potential Therapeutic Target for Dermatoses
Targeting protein S-palmitoylation could lead to new skin disease treatments.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Repeatable Perming via Thiol–Michael Click Reaction: Using Amide Derived from Maleic Acid and Cystine
A new perming method is less damaging to hair and works as well as traditional methods.
research UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation
research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research Activity of steroid 4 and derivatives 4a–4f as inhibitors of the enzyme 5α-reductase 1
Compounds 4, 4b, and 4c effectively inhibit an enzyme linked to testosterone conversion without significant toxicity.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Synthesis and Evaluation of 2‘-Substituted 4-(4‘-Carboxy- or 4‘-carboxymethylbenzylidene)-N-acylpiperidines: Highly Potent and in Vivo Active Steroid 5α-Reductase Type 2 Inhibitors
Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.
research N‑K GM SERIES: COMPLETE GEOMETRIC MEDICINE FOR SUDAN AND THE AFLATOXIN BELT — A Unified Solution for Aflatoxin Poisoning, Cancer, and Public Health Transformation
The N-K GM Series offers a free, effective solution to eliminate aflatoxin and cancer, improving health and life expectancy.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research Trimethoprim-Induced Aseptic Meningitis
Trimethoprim-sulfamethoxazole can cause aseptic meningitis, especially in people with certain health conditions.
research QSAR Analysis of a Series of Hydantoin‐based Androgen Receptor Modulators and Corresponding Binding Affinities
Researchers developed reliable models to predict how well certain compounds bind to androgen receptors, emphasizing the importance of atomic electronegativity.
research A novel eco-friendly Acinetobacter strain A1-4-2 for bioremediation of aquatic pollutants
Acinetobacter strain A1-4-2 can safely clean water pollutants.
research Drug Discovery Insights from a Computational QSAR Study on Alpha-Reductase Inhibitors and Layered Double Hydroxides Electrocatalysts
Computational techniques can improve drug development for treating certain conditions.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Design, Synthesis and Anxiolytic Activity Evaluation of N-Acyltryptophanyl- Containing Dipeptides, Potential TSPO Ligands#
The compound GD-23 may reduce anxiety like diazepam by targeting the TSPO receptor.