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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 new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

A genetic marker linked to a type of hair loss was found in most patients studied.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

Targeting the TNFRSF1B gene may help treat hair loss.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

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

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.

TGM3 is important for skin and hair structure and may help diagnose cancer.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A new gene mutation causes long hair in some Maine Coon cats.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Fewer GGC sequences in the androgen receptor gene improve finasteride treatment for hair loss.

Four new FGF5 gene variants cause long hair in dogs.