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A new DSG4 gene mutation causes hair defects in a young girl.

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A specific gene variant may increase the risk of developing Alopecia Areata.

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

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

C-scores can help predict gain-of-function and loss-of-function mutations.

Genetic variants in specific genes cause central centrifugal cicatricial alopecia.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

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.

Not having enough cystatin M/E protein causes less hair growth and dry skin.

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

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

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

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