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

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.

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

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

MC4R gene variants not linked to female hair loss.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

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

Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.

A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.

Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.

The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

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

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

A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.

New mutations in the hairless gene may cause hair loss and affect bone development.

Alopecia can be caused by multicentric reticulohistiocytosis.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.