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Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

The hr gene is linked to hair loss in Valle del Belice sheep.

KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Mutations in specific genes cause different types of ectodermal dysplasias.

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

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.

The E2 protein affects gene activity in hair follicles of mice.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.

Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.

Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.

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

The KRTAP15-1 gene affects cashmere fiber thickness in goats.

The study mapped genetic variations in sheep, linking them to traits like milk production and growth.

scINSIGHT accurately identifies cell clusters and gene patterns in complex data.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

The LTF gene may help predict and manage nonspecific orbital inflammation.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.