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A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

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

Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.

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

The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.

The document explains how to identify different hair problems using a microscope.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

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

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

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

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

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

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.