Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This study found that while epidermal PLCγ1 is not necessary for keratinocyte differentiation in interfollicular epidermis, it is crucial for normal hair and sebaceous gland formation in mice.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.

This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.