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The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Human adrenals and gonads have a unique enzyme for steroid hormone production.

A girl had rickets due to a gene mutation affecting vitamin D response.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.

5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.

KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

The treatment was not recommended due to limited effectiveness and significant side effects.

The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.

Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.

The activity of a specific rat enzyme in the prostate and epididymis is highly dependent on the acidity level.

A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

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

TEDAR is crucial for skin cell differentiation and barrier formation.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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.

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.

Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.

Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

5 Alpha-Reductase Inhibitors reduce the effects of testosterone by blocking its conversion into a stronger form.

Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.

The B2 genes are crucial for hair growth in rats.