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Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

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

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Selective breeding caused the unique curly hair in Mangalitza pigs.

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

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

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

Androgens significantly affect female hair loss, and hormonal treatments may help.

Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

Haplogroup X found in Altaian population supports Amerindian origin.

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.

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

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

Xiangdong black goats have moderate genetic diversity, minimal inbreeding, and important genes for reproduction, immunity, and other traits.

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

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

The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

New treatments targeting specific genes show promise for treating keratin disorders.

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.

Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.

Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.

Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.