A number of oncogenic driver mutations have been identified in melanocytic nevi and
melanoma, but translocations also play a role in tumorigenesis and provide potential …

Even though B-lymphocyte development is one of the best understood models for cell
differentiation in the hematopoetic system, recent advances in cell sorting and functional …

Although mutation and natural selection have given rise to our immune system, a well‐
placed mutation can also cripple it, and within an expanding population we are recognizing …

Current genome-wide association studies (GWAS) for kidney function lack ancestral
diversity, limiting the applicability to broader populations. The East-Asian population is …

In principle, the inhibition of candidate gain-of-function genes defined through genomic
analyses of large patient cohorts offers an attractive therapeutic strategy. In this study, we …

Nuclear protein, ataxia-telangiectasia locus (NPAT) and FLICE-associated huge protein
(FLASH) are two major components of discrete nuclear structures called histone locus …

We identified two homozygous truncating variants in GON4L [NM_001282860. 2: c.
62_63del, p.(Gln21Argfs* 12) and c. 5517+ 1G> A] in two unrelated families who presented …

Objectives A polygenic model is commonly assumed for the predisposition to common
cancers. With respect to lung cancer, Genome Wide Association Studies (GWAS) have …

We previously identified a novel mutant mouse strain on the C3HeB/FeJ background named
Justy. This strain bears a recessive mutation in the Gon4l gene that greatly reduces …

Anteroposterior (AP) axis extension during gastrulation requires embryonic patterning and
morphogenesis to be spatiotemporally coordinated, but the underlying genetic mechanisms …