Mammalian development demands precision. Millions of molecules must be properly
located in temporal order, and their function regulated, to orchestrate important steps in cell …

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …

Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized
by deficits in executive function, linguistic processing, spatial cognition, and affect regulation …

Ubiquitination is a highly conserved and fundamental posttranslational modification (PTM) in
all eukaryotes regulating thousands of proteins. The RING (really interesting new gene) …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the
inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical …

Although next-generation sequencing has revolutionized the ability to associate variants
with human diseases, diagnostic rates and development of new therapies are still limited by …

Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …

The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …