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Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

A new therapy for a skin blistering condition has not been developed yet.

The genetic variant studied does not affect PCOS symptoms in Kashmiri women.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.

Metformin works better for adolescent girls with PCOS who have certain genetic variations.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

A gene mutation causes woolly hair in a Syrian patient.

Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.

Frizzled receptors are essential for various body development processes and maintaining certain body functions.

The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.

Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.

Hidradenitis suppurativa might be a type of autoinflammatory skin disease.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.

Male-pattern hair loss is largely influenced by genetics, with key genes identified.

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

Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.

Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.