Fast and scalable inference of multi-sample cancer lineages. [PDF]
, 2014 Somatic variants can be used as lineage markers for the phylogenetic reconstruction of cancer evolution. Since somatic phylogenetics is complicated by sample heterogeneity, novel specialized tree-building methods are required for cancer phylogeny ...
Batzoglou, Serafim +5 more
core +5 more sources
Phenocopies in melanoma-prone families with germ-line CDKN2A mutations [PDF]
Genetics in Medicine, 2018 Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations.Swedish and US melanoma-prone families with CDKN2A mutations were included.
Hildur, Helgadottir +5 more
openaire +2 more sources
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare.
Won Kyoung Cho +5 more
doaj +1 more source
Stem Cell Research, 2021 As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM.
Robert J. Barndt +6 more
doaj +1 more source
Evolution of female choice and age-dependent male traits with paternal germ-line mutation
, 2013 Several studies question the adaptive value of female preferences for older males. Theory and evidence show that older males carry more deleterious mutations in their sperm than younger males carry.
Adamson, Joel James
core +2 more sources
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]
, 2018 CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena +13 more
core +1 more source
Biochemical and Functional Characterization of Germ Line KRAS Mutations [PDF]
Molecular and Cellular Biology, 2007 Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant
Schubbert, S. +8 more
openaire +3 more sources
Stem Cell Research, 2018 The leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S ...
Ana Marote +7 more
doaj +1 more source
Nucleoporin98-96 function is required for transit amplification divisions in the germ line of Drosophila melanogaster. [PDF]
PLoS ONE, 2011 Production of specialized cells from precursors depends on a tightly regulated sequence of proliferation and differentiation steps. In the gonad of Drosophila melanogaster, the daughters of germ line stem cells (GSC) go through precisely four rounds of ...
Benjamin B Parrott +5 more
doaj +1 more source
Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. [PDF]
, 1996 It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome.
Deckart, H. F. +15 more
core +1 more source