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A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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

Researchers found a non-functional sheep keratin gene due to mutations.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

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

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

The scraggly mutation causes hair loss and skin defects in mice.

A specific gene mutation causes a severe skin disorder in a family.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

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

Using special RNA to target a mutant gene fixed hair problems in mice.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Two new gene mutations cause a rare hair disorder.

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

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

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.