Primary adrenal insufficiency (PAI) is a potentially life‐threatening condition that requires
urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal …

The cyclin/CDK inhibitor p57Kip2 belongs to the Cip/Kip family, with p21Cip1 and p27Kip1,
and is the least studied member of the family. Unlike the other family members, p57Kip2 has …

Bladder cancer is one of the most lethal cancers in the world. Despite the continuous
development of medical technologies and therapeutic strategies, the overall survival rate of …

During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand
DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding …

Human development and tissue homeostasis depend on the regulated control of cellular
proliferation and differentiation. DNA replication is essential to couple genome duplication …

Vogt–Koyanagi–Harada (VKH) disease is a systemic autoimmune disorder affecting multiple
organs, including eyes, skin, and central nervous system. It is known that monocytes …

Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to
diagnose, especially if it is not considered as a potential cause of a child's clinical …

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists,
clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists …

Mutations in CDKN1C, encoding p57KIP2, a canonical cell cycle inhibitor, underlie multiple
pediatric endocrine syndromes. Despite this central role in disease, little is known about the …

Background: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of
cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss …