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A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.

Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.

Basal cell carcinomas need extra mutations to grow from small to large tumors.

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

HPV8 causes hair follicle stem cells to grow, leading to skin lesions.

Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.

Progerin affects cell shape but not hair or skin in mice.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

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

Changing YBX1 protein activity affects skin stem cell function and aging.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

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

Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.

Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

PTCH gene mutations contribute to basal cell carcinoma development.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

SQSTM1 is linked to increased risk of alopecia areata.