Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by
lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional …

An integrated human-mouse positional candidate approach was used to identify the gene
responsible for the phenotypes observed in a mouse model of Niemann-Pick type C (NP-C) …

Hirschsprung disease (HSCR, MIM ♯142623) is a multigenic neuocristopathy (neural crest
disorder) characterized by absence of enteric ganglia in a variable portion of the distal colon. …

Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and catalytic …

Waardenburg syndrome (WS) is associated with neural crest-derived melanocyte deficiency
caused by mutations in either one of three transcription factors: MITF, PAX3, and SOX10. …

INTRODUCTION Variation in pigmentation among human populations may reflect local
adaptation to regional light environments, because dark skin is more photoprotective, whereas …

The more than 20 different Mitf mutations in the mouse are all associated with deficiencies in
neural crest-derived melanocytes that range from minor functional distur-bances with some …

Converging lines of evidence from varied scientific disciplines suggest that cutaneous
melanomas comprise biologically distinct subtypes that arise through multiple causal pathways. …

To gain insight into melanoma pathogenesis, we characterized an insertional mouse mutant,
TG3, that is predisposed to develop multiple melanomas 1 , 2 . Physical mapping identified …

Group 3 innate lymphoid cells (ILC3) are major regulators of inflammation and infection at
mucosal barriers 1 . ILC3 development is thought to be programmed 1 , but how ILC3 perceive…