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Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

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

Stopping mitochondrial respiration can prevent brain cancer spread in skin cancer patients, and plant compound β-sitosterol could help achieve this.

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

Akt2 protein is essential for normal cell division in early mouse embryos.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

The naked mutation in mice causes hair loss and helps identify keratin genes.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

HPV8 causes hair follicle stem cells to grow, leading to skin lesions.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

A mouse gene mutation increases the risk of skin cancer.

Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.