MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22804
Abstract: Interpretation of missense variants remains a major challenge for genetic diagnosis, even in well‐known genes such as the DNA‐mismatch repair (MMR) genes involved in Lynch syndrome. We report the characterization of a variant in MSH2:… read more here.
Keywords: founder; variation; msh2 1022t; north france ... See more keywords
Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23736
Abstract: Germline mutations in breast cancer susceptibility gene 1 and 2 have previously been estimated to contribute to 13–18% of all epithelial ovarian cancer (EOC). To characterize the prevalence and effect of BRCA1 and BRCA2 mutations… read more here.
Keywords: founder; epithelial ovarian; prevalence; effect ... See more keywords
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1674
Abstract: BACKGROUND Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.-167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or compound heterozygosity… read more here.
Keywords: founder; disease; polycystic kidney; mutation ... See more keywords
The throne vs. the kingdom: Founder control and value creation in startups
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DOI: 10.1002/smj.2478
Abstract: Research summary: Does the degree to which founders keep control of their startups affect company value? I argue that founders face a “control dilemma” in which a startup's resource dependence drives a wedge between the… read more here.
Keywords: founder control; founder; control; value ... See more keywords
Founder cells for hepatocytes during liver regeneration: from identification to application
Sign Up to like & getrecommendations! Published in 2020 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-020-03457-3
Abstract: Liver regeneration (LR) capacity in vertebrates developed through natural selection over a hundred million years of evolution. To maintain homeostasis or recover from various injuries, liver cells must regenerate; this process includes the renewal of… read more here.
Keywords: founder; liver regeneration; hepatocytes liver; founder cells ... See more keywords
A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Mammalian Genome"
DOI: 10.1007/s00335-020-09827-3
Abstract: The collaborative cross (CC) is a large panel of mouse-inbred lines derived from eight founder strains (NOD/ShiLtJ, NZO/HILtJ, A/J, C57BL/6J, 129S1/SvImJ, CAST/EiJ, PWK/PhJ, and WSB/EiJ). Here, we performed a comprehensive and comparative phenotyping screening to… read more here.
Keywords: founder; phenotypic analysis; comparative phenotypic; comprehensive comparative ... See more keywords
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02268-1
Abstract: The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we… read more here.
Keywords: intellectual disability; novo variants; founder; founder population ... See more keywords
Building Organizational Identity: an Insider Action Research from a Founder’s Viewpoint
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DOI: 10.1007/s11213-017-9410-2
Abstract: This paper features the implementation of an extensive insider action research, exhaustively following the framework of Coghlan and Brannick (2010, 2014). It consisted of two action research projects - the thesis action research and the… read more here.
Keywords: organizational identity; action research; founder; action ... See more keywords
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED
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DOI: 10.1007/s12020-021-02826-7
Abstract: Purpose Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is more prevalent in some founder populations, but relatively unexplored in Canada. This study aimed at investigating the French-Canadian patients through phenotypic and genotypic characterization. Method Phenotype and demographic characterization… read more here.
Keywords: french canadian; muscle; saint jean; lac saint ... See more keywords
Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.06.006
Abstract: PURPOSE Multiple lines of evidence have suggested a likely causative role in breast/ovarian cancer (BrCa/OvCa) predisposition for the BRCA1 p.(Val1833Met) variant, predominantly found among Greek patients. Our aim was to study the variant's prevalence and… read more here.
Keywords: brca1 val1833met; founder; val1833met variant; founder effect ... See more keywords
Population genomics of Tillandsia landbeckii reveals unbalanced genetic diversity and founder effects in the Atacama Desert
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DOI: 10.1016/j.gloplacha.2019.103076
Abstract: Abstract In hyper-arid habitats vegetation tends to be highly patchy with individual plant populations set widely apart from each other. In the Atacama Desert of northern Chile, rainfall is essentially absent, but fog occurring both… read more here.
Keywords: founder; diversity; tillandsia landbeckii; genetic diversity ... See more keywords