Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder
characterized by bilateral renal cystic dysplasia, developmental defects of the central …

Individuals born of consanguineous union have segments of their genomes that are
homozygous as a result of inheriting identical ancestral genomic segments through both …

Neighboring genes are often coordinately expressed within cis-regulatory modules, but
evidence that nonparalogous genes share functions in mammals is lacking. Here, we report …

Deficits in the basal ganglia pathways modulating cortical motor activity underlie both
Parkinson disease (PD) and Huntington disease (HD). Phosphodiesterase 10A (PDE10A) is …

Activation of granzyme B, a key cytolytic effector molecule of natural killer (NK) cells,
requires removal of an N-terminal pro-domain. In mice, cathepsin C is required for granzyme …

Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised
by an inability to perceive pain present from birth due to lack of, or malfunction of …

Previous genetic and public health research in the Pakistani population has focused on the
role of consanguinity in increasing recessive disease risk, but little is known about its recent …

Abstract Background Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal
condition that is a ciliopathy. MKS has marked phenotypic variability and genetic …

Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative
traits. We investigated associations between the fraction of the genome in runs of …