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A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.

Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.

Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.

The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.

Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.

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

XEDAR triggers a specific signaling pathway in cells.

There's no significant genetic link between male pattern baldness and COVID-19.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.

Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.

KFSD causes scarring hair loss and skin roughness, mainly in males.

The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.

The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.

A girl with a rare skin condition improved after one month of treatment with acitretin.

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

The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.

Longer CAG repeats in gene linked to more severe hair loss in females.

High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.

Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.

The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.

Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.

Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.

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

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

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.