Author: Molecular Profiling Initiative, NCI *This method was successful in our lab using prostate tissue and for our specific objectives. Investigators must be aware that they will need to tailor the following protocol for their own research objectives and tissue under study*. This method is used to detect genomic DNA deletions in tumor cells.
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No evidence for a recent genetic bottleneck in the endangered Sheko cattle breed (African Bos taurus) revealed by microsatellite analysis [PDF]
Sheko is African taurine cattle, valued for its milk yield, adaptation to humid tsetse infested environment and trypanotolerance. We used 30 microsatellite markers in analyzing 30 DNA samples. We found high genetic diversity and no genetic bottlenecks in
Hailu Dadi +6 more
core +1 more source
Potential inbreeding in a small population of a mass flowering species, Xanthorrhoea johnsonii (Xanthorrhoaceae): is your mother my father? [PDF]
Xanthorrhoea johnsonii is a long lived slow growing perennial understorey species, that produces a large quantity of passively dispersed seed every 3-5 years. Reproductive maturity is not reached until 20-30 years of age.
King, Rachel, Zalucki, Jacinta M.
core +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Clonal dynamics following p53 loss of heterozygosity in Kras-driven cancers
Using mosaic analysis with double markers to label genetically-distinct clones in established tumors, the authors studied the effects of p53 loss in lung and pancreatic cancers.
Mandar Deepak Muzumdar +7 more
doaj +1 more source
Background The loss of a single copy of adenomatous polyposis coli (Apc) in leucine-rich repeats and immunoglobulin-like domains 1 (Lrig1)-expressing colonic progenitor cells induces rapid growth of adenomas in mice with high penetrance and multiplicity.
Jessica L. Preston, Nicholas Stiffler
doaj +1 more source
Effects of outbreeding depression on meristics and bilateral asymmetry in hybrids of spatially separated populations of pink salmon (Oncorhynchus gorbuscha) [PDF]
Thesis (M.S.) University of Alaska Fairbanks, 2005Different populations of a species distributed over diverse conditions adapt to their local environments to improve their ability to survive or reproduce. Intraspecific hybridization can alter the locally
Hoover, Carrie L.
core
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
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Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Microsatellite Instability and Loss of Heterozygosity in Melanoma
Alterations in the repeat length of microsatellites have been identified recently in tumors arising in patients with hereditary nonpolyposis colon cancer and in several human sporadic tumors. We examined 40 sporadic melanomas and their corresponding nontumorous skin for microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosomes 2q,
Peris, Ketty +5 more
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