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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.

The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.

Lack of cystatin M/E causes thin hair and dry skin.

South American camelids should be sheared early, fleece type affects fiber quality, and the S/P follicle ratio doesn't distinguish between Bolivian llama genotypes.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

PCOS and related metabolic issues often run in families.

Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.

Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.

A new gene mutation causes insulin resistance in a girl and her mother.

Isotretinoin can raise CPK levels, so patients need monitoring, especially before surgery.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.

A gene called Gk5 controls lipid production in the skin and affects hair growth.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

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

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.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.