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Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.

The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.

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

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.

Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.

Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.