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A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye 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.

A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.

MARCKSL1 is important for wound healing and could be a target to reduce scarring.

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.

Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Squaric acid dibutylester can cause severe skin reactions in people with allergies.

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

Two peptides, RMYYY and VMYMI, may be effective anti-inflammatory drugs.

Genetic factors influence growth and brain development in children.

Mimosa pudica extract may help create new sedative and anti-anxiety drugs.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.

FP-1 is a key protein in rat hair growth, active only during the growth phase.

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

Identified genes linked to male-pattern baldness may help develop new treatments.

Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.

PADI4 enzyme slows down cell growth in developing hair follicles.

The screening method effectively predicts psychosis, valproate use is linked to hair loss, and IDEAS is valid for assessing mental disorder disability.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.

Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.