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A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

Type I and Type II keratin chains can form heterodimers despite sequence differences.

A new gene mutation causes insulin resistance in a girl and her mother.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

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

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.

A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.

Only one K16 gene on chromosome 17 makes a functional keratin protein.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Monilethrix is linked to a gene cluster on chromosome 12.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.

Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.

There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.