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

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

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.

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

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

A new gene mutation linked to a skin condition was found in a Spanish family.

Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

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

Thymic transplantation normalized some T-cells but not others, maintaining immune function.

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

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

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

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.

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

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

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

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.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Mutation in hairless gene may increase hair loss risk.

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

Mutation in hairless gene may increase hair loss risk.