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Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Aromatase gene variation may increase female hair loss risk.

A specific gene mutation causes different hair defects in Indian monilethrix families.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A dissolving microneedle patch with collagen XVII effectively promotes hair regrowth in androgenic alopecia.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A woman's mature cystic teratoma caused her virilization by producing testosterone.