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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.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

Researchers created a new mouse model for studying scleroderma.

SQSTM1 is linked to increased risk of alopecia areata.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

A mutation in the human hairless gene causes alopecia universalis.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

KRT72 gene helps form hair.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Certain genetic markers may increase or decrease prostate cancer risk.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

Researchers found a gene mutation responsible for a rare hair loss condition.

A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.