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A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.

The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Bcl-2 affects hair growth and pigmentation by controlling cell death.

The new drug delivery system improves bicalutamide skin retention for better treatment of hair loss.

The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.

People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.

Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.

Adam10 enzyme is crucial for healthy skin and proper Notch signaling.

Both HLA-B and MICA are independently linked to alopecia areata.

BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

Mutations in specific genes cause different types of ectodermal dysplasias.

PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.

Mild changes in bone markers relate to TCM syndromes in CKD-MBD patients.

The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.

Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.

PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.

BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.

A mutation in mice causes hair loss and immune problems.

The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.