Genetics of human autoimmunity: From genetic information to functional insights.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical immunology"
DOI: 10.1016/j.clim.2017.08.017
Abstract: Genome-wide association studies have identified hundreds of risk variants associated with human autoimmune diseases. Recent evidence suggests that a substantial portion of them affect gene expression in specific cell types. To obtain the functional insights… read more here.
Keywords: human autoimmunity; genetics human; genetics; functional insights ... See more keywords
Genetics of human epilepsies: Continuing progress.
Sign Up to like & getrecommendations! Published in 2018 at "Presse medicale"
DOI: 10.1016/j.lpm.2017.10.020
Abstract: Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group… read more here.
Keywords: epilepsy; human epilepsies; progress; genetics human ... See more keywords
Genetics of human female infertilityâ€
Sign Up to like & getrecommendations! Published in 2019 at "Biology of Reproduction"
DOI: 10.1093/biolre/ioz084
Abstract: Abstract About 10% of women of reproductive age are unable to conceive or carry a pregnancy to term. Female factors alone account for at least 35% of all infertility cases and comprise a wide range… read more here.
Keywords: human female; genetics human; genetics; female infertility ... See more keywords
Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".
Sign Up to like & getrecommendations! Published in 2022 at "Cerebral cortex"
DOI: 10.1093/cercor/bhac249
Abstract: Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human… read more here.
Keywords: developmental neurocranial; molecular genetics; human developmental; genetics human ... See more keywords
Genetics of Human Thyroid Cancer Cell Lines—Response
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-19-2531
Abstract: We read with interest the letter by Garcia and colleagues, as well as their recent publication assessing MET amplification in the anaplastic thyroid cancer (ATC)-derived TTA-1 cell line ([1][1]). In their correspondence, the authors asked… read more here.
Keywords: genetics human; human thyroid; cancer; genetics ... See more keywords