Search

everythinglearnresearchcommunity

for

Search:↓

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.

A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

The 14-3-3σ gene is essential for preventing hair loss.

The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.

Deleting part of a gene in mice causes wavy hair and high pup loss.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.

Removing SIX1 in fat cells reduces skin fibrosis.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.

A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.

Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.

Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.

An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

Understanding genetics is crucial for treating heart and skin diseases.

New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.

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

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

Naked-mouse hair lacks certain proteins and has less soluble fibril.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.