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The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Two siblings have a rare hair condition caused by a new genetic variant.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.

Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.

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

A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

A young man was diagnosed with a rare hair loss condition usually seen in older women.

Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

A specific gene mutation causes woolly hair and hair loss.

A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

VHL disease can cause early paragangliomas, needing lifelong monitoring.

New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.