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Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

Deleting Snai2 and Snai3 causes fatal autoimmunity.

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

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

The angora mouse mutation causes long hair and hair defects due to a gene deletion.

A new DSG4 gene mutation causes hair defects in a young girl.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.

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

Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.

Cathepsin L deficiency causes hair and skin issues in mice.

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

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

Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.