Search

everythinglearnresearchcommunity

for

Search:↓

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

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

A rare EGFR mutation in newborns leads to severe health issues and early death.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

CT60 polymorphism might increase the risk of Alopecia Areata.

Genetic variants in specific genes cause a type of hair loss.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.

A specific gene mutation causes sparse, brittle hair in a family.

Researchers found a new mutation causing total hair loss from birth.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

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

A new mutation in the KRT86 gene causes monilethrix in a Han family.

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

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

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

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.