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A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

A specific genetic variation affects wool quality in sheep.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Portable point-of-care testing can improve quick and accurate genetic disorder detection.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Tmem30b is essential for hearing by maintaining hair cell structure in the ear.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.

Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

The lentiviral array can monitor and predict gene activity during stem cell differentiation.