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A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.

A rare tumor caused unusual hormone production leading to Cushing syndrome.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.

The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.

Hair sheds gradually from the follicle, with readiness to shed indicated by less attachment material.

Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

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

Monilethrix is linked to a gene cluster on chromosome 12.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

Surgical treatment for cubital tunnel syndrome can be effective using clinical tests without electrodiagnostics.

Mutations in specific genes cause different types of ectodermal dysplasias.

Newly divided skin cells quickly move to join skin structures due to tissue tension and specific signals.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.

Ptprq has multiple forms that change during inner ear development.

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

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Disrupting β-catenin signaling in certain cells causes anorectal malformations.