Bat biology, genomes, and the Bat1K project: to generate chromosome-level genomes for all living bat species
Bats are unique among mammals, possessing some of the rarest mammalian adaptations,
including true self-powered flight, laryngeal echolocation, exceptional longevity, unique …
including true self-powered flight, laryngeal echolocation, exceptional longevity, unique …
Mammalian evolution and biomedicine: new views from phylogeny
MS Springer, WJ Murphy - Biological Reviews, 2007 - Wiley Online Library
Recent progress resolving the phylogenetic relationships of the major lineages of mammals
has had a broad impact in evolutionary biology, comparative genomics and the biomedical …
has had a broad impact in evolutionary biology, comparative genomics and the biomedical …
Human BRCA pathogenic variants were originated during recent human history
BRCA1 and BRCA2 (BRCA) play essential roles in maintaining genome stability. BRCA
germline pathogenic variants increase cancer risk. However, the evolutionary origin of …
germline pathogenic variants increase cancer risk. However, the evolutionary origin of …
Rapid evolution of BRCA1 and BRCA2in humans and other primates
DI Lou, RM McBee, UQ Le, AC Stone… - BMC evolutionary …, 2014 - Springer
Background The maintenance of chromosomal integrity is an essential task of every living
organism and cellular repair mechanisms exist to guard against insults to DNA. Given the …
organism and cellular repair mechanisms exist to guard against insults to DNA. Given the …
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines
MK So, TD Jeong, W Lim, BI Moon, NS Paik, SC Kim… - Breast Cancer, 2019 - Springer
Abstract Background Although BRCA1 or BRCA2 (BRCA1/2) genetic testing plays an
important role in determining treatment modalities in patients with hereditary breast and …
important role in determining treatment modalities in patients with hereditary breast and …
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
P Ghiorzo, G Fornarini, S Sciallero… - Journal of medical …, 2012 - jmg.bmj.com
Background Most familial pancreatic cancer (FPC) remains unexplained. The identification
of individuals with a high genetic risk of developing pancreatic adenocarcinoma (PC) is …
of individuals with a high genetic risk of developing pancreatic adenocarcinoma (PC) is …
OrthoMaM v12: a database of curated single-copy ortholog alignments and trees to study mammalian evolutionary genomics
To date, the databases built to gather information on gene orthology do not provide end-
users with descriptors of the molecular evolution information and phylogenetic pattern of …
users with descriptors of the molecular evolution information and phylogenetic pattern of …
Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta
Background Ameloblastin (AMBN) is a phosphorylated, proline/glutamine-rich protein
secreted during enamel formation. Previous studies have revealed that this enamel matrix …
secreted during enamel formation. Previous studies have revealed that this enamel matrix …
[HTML][HTML] A global perspective on the ethnic-specific BRCA variation and its implication in clinical application
SM Wang - Journal of the National Cancer Center, 2023 - Elsevier
Abstract Pathogenic BRCA1 and BRCA2 (BRCA) variation is the genetic predisposition for
high cancer risk affecting mostly breast and ovarian. BRCA variation information is widely …
high cancer risk affecting mostly breast and ovarian. BRCA variation information is widely …
Common Variation in the BRCA1 Gene and Prostate Cancer Risk
Rare inactivating mutations in the BRCA1 gene seem to play a limited role in prostate
cancer. To our knowledge, however, no study has comprehensively assessed the role of …
cancer. To our knowledge, however, no study has comprehensively assessed the role of …