Point mutations in the coding regions of genes are commonly assumed to exert their effects
by altering single amino acids in the encoded proteins. However, there is increasing …

Members of the nerve growth factor (NGF) and glial cell line-derived neurotrophic factor
(GDNF) families—comprising neurotrophins and GDNF-family ligands (GFLs), respectively …

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

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …

Although the assumption of the neutral theory of molecular evolution—that some classes of
mutation have too small an effect on fitness to be affected by natural selection—seems …

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of
functional intestinal obstruction with an incidence of 1/5000 live births. This developmental …

Background: Clinical data indicate that estrogen receptor–positive/progesterone receptor–
negative (ER+/PR−) breast cancers are less sensitive to tamoxifen than are ER+/PR+ …

Tremendous advances have been made over the past two decades in determining the
molecular genetic basis for human inherited diseases. Mutations in an impressive number of …

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases.
By contrast with the thousands of reports that mutations in single genes cause human …

Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively
common disorder of neural crest migration. It has a strong genetic basis, although simple …