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Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

The model predicts minoxidil's effectiveness and side effects better than traditional methods.

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

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Cantú syndrome is caused by mutations in the ABCC9 gene.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

SASH1 gene mutations are linked to various inherited skin pigmentation disorders.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Zinc supplements improved the girl's skin and hair condition.

Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.

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

A new mouse mutation causes skin and hair defects due to a gene change.

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

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.