Abstract The 2022 Nucleic Acids Research Database Issue contains 185 papers, including
87 papers reporting on new databases and 85 updates from resources previously published …

The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for
the components of the contractile machinery which plays a crucial role in muscle disorders …

MPDZ, a gene with diverse functions mediating cell–cell junction interactions, receptor
signaling, and binding multivalent scaffold proteins, is associated with a spectrum of …

Hormone-responsive breast cancer represents the most common type and has the best
prognosis, but still approximately 40% of patients with this type can develop distant …

Rabson–Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized
by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first …

Rare variants (RVs) in the gene encoding the regulatory enzyme complement factor I (CFI;
FI) that reduce protein function or levels increase age-related macular degeneration (AMD) …

Introduction: Gastric cancer is one of the most prevalent types of cancer worldwide. The
World Health Organization (WHO), the International Agency for Research on Cancer (IARC) …

Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that
affects an estimated 2–5% of North Americans. FASD is induced by prenatal alcohol …

Matrin-3 (MATR3) was initially discovered as a component of the nuclear matrix about thirty
years ago. Since then, accumulating studies have provided evidence that MATR3 not only …

Idiopathic recurrent pregnancy loss (RPL) is defined as at least two pregnancy losses before
20 weeks of gestation. Approximately 5% of pregnant couples experience idiopathic RPL …