Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Deleting part of a gene in mice causes wavy hair and high pup loss.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

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

The infant with a urea cycle disorder improved with treatment and a liver transplant.

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

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

Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.

Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

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

An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.

A new gene mutation causes a rare type of hair loss.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Mutations in the HOXC13 gene cause hair and nail development issues.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

Zinc supplements improved the girl's skin and hair condition.

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

Researchers created a mouse model of a type of rickets that does not cause hair loss.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.