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A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Certain gene variations are found in people with polycystic ovary syndrome.

SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.

New genes and pathways are important for testosterone production and male sexual development.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.

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

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.

A new gene mutation causes insulin resistance in a girl and her mother.

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

A man's skin condition and poor diet led to a scurvy diagnosis.

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.

Msx2 deficiency in mice leads to bone growth and organ development problems.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Vitamin C deficiency changes gene expression, affecting skin and hair health.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

The study suggests a link between varicella-zoster virus and segmental vitiligo, with evidence of the virus disrupting skin pigment cells.