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Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

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

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.

5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.

A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.

Certain gene variations may increase the risk and severity of alopecia areata.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

5-ARI therapy may help prevent prostate cancer progression.

Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.

Recognizing minor skin lesions can help identify serious cancer syndromes.

Mutations in the P2RY5 gene cause hereditary woolly hair.

Some people have a genetic variation that makes them less effective at breaking down drugs.