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New lipid/fiber microplexes improve mRNA therapy for degenerative diseases by enhancing cell function and treatment effectiveness.

A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

Altering SSAT affects fat metabolism and body fat in mice.

Levetiracetam often causes behavioral issues, while oxcarbazepine is more likely to cause sleepiness in epilepsy patients.

The sensor accurately measures thallium ions in solutions with high selectivity.

The CLASI is a reliable tool for measuring the severity of cutaneous lupus erythematosus.

High doses of Lagenaria siceraria fruit powder lower FSH and LH hormone levels in male rats.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

New mutations in the DSG4 gene cause a rare hair condition.

A new gene mutation linked to a skin condition was found in a Spanish family.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.

Stilbamidine and hydroxystilbamidine inhibit enzyme release from lysosomes and have effects similar to cortisol and chloroquine.

Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Lurasidone is effective for bipolar depression and schizophrenia, but more safety data is needed.

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

Overexpressing SSAT enzyme reduces prostate tumor growth in mice.