A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.479
Abstract: Familial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in… read more here.
Keywords: germ line; apc gene; familial adenomatous; polyposis ... See more keywords
Measurement of mRNA Poly(A) Tail Lengths in Drosophila Female Germ Cells and Germ-Line Stem Cells.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-4017-2_7
Abstract: mRNA regulation by poly(A) tail length variations plays an important role in many developmental processes. Recent advances have shown that, in particular, deadenylation (the shortening of mRNA poly(A) tails) is essential for germ-line stem cell… read more here.
Keywords: germ line; mrna poly; line stem; poly tail ... See more keywords
Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype–Phenotype Features—An Entity With an Increasing Incidence?
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Colorectal Cancer"
DOI: 10.1016/j.clcc.2018.01.009
Abstract: Purpose To assess clinical characteristics of patients with metastatic pancreas ductal adenocarcinoma (PDAC) and brain metastases (BM), and to assess somatic and germ‐line molecular profiles where performed. Patients and Methods Patients with PDAC and BM… read more here.
Keywords: brain metastases; germ line; range months; months range ... See more keywords
The differential diagnosis of a TP53 genetic testing result
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.250
Abstract: The Li-Fraumeni cancer predisposition syndrome (LFS, MIM 151623) was originally described as an autosomal dominantly inherited syndrome characterized by childhood sarcomas and multiple other cancer types and is often due to germ-line mutations in the… read more here.
Keywords: germ line; genetic testing; cancer; tp53 mutations ... See more keywords
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi
Sign Up to like & getrecommendations! Published in 2021 at "Thyroid"
DOI: 10.1089/thy.2020.0391
Abstract: Background: Many physiological effects of thyroid hormone (TH) are mediated by its canonical action via nuclear receptors (TH receptor α and β [TRα and TRβ]) to regulate transcription of target genes. Heterozygous dominant negative mutations… read more here.
Keywords: germ line; skin lesions; melanocytic nevi; rth ... See more keywords
All for one: changes in mitochondrial morphology and activity during syncytial oogenesis
Sign Up to like & getrecommendations! Published in 2022 at "Biology of Reproduction"
DOI: 10.1093/biolre/ioac035
Abstract: Abstract The syncytial groups of germ cells (germ-line cysts) forming in ovaries of clitellate annelids are an attractive model to study mitochondrial stage-specific changes. Using transmission electron microscopy, serial block-face scanning electron microscopy, and fluorescent… read more here.
Keywords: morphology; microscopy; germ line; activity ... See more keywords
Control mechanisms in germ cells mediated by p53 family proteins
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cell Science"
DOI: 10.1242/jcs.204859
Abstract: ABSTRACT Germ cells are totipotent and, in principle, immortal as they are the source for new germ cells in each generation. This very special role requires tight quality control systems. The p53 protein family constitutes… read more here.
Keywords: germ line; family; germ cells; germ ... See more keywords
Genomic integrity in the male germ line: evidence in support of the disposable soma hypothesis.
Sign Up to like & getrecommendations! Published in 2018 at "Reproduction"
DOI: 10.1530/rep-18-0202
Abstract: The Big Blue λSelect-cII selection system has been employed along with whole-exome sequencing to examine the susceptibility of the male germ line to mutation in two challenging situations (i) exposure to a chemotherapeutic regime including… read more here.
Keywords: germ line; male germ; disposable soma; evidence ... See more keywords
Germ-line cysts in animal gametogenesis - genesis, organization and functioning
Sign Up to like & getrecommendations! Published in 2021 at "Postepy biochemii"
DOI: 10.18388/pb.2021_408
Abstract: During early gametogenesis the incomplete mitotic divisions occur. The cytokinesis is blocked and the sister cells do not fully separate. Instead, they stay connected via modified contractile rings known as stable intercellular bridges or ring… read more here.
Keywords: line cysts; germ line; organization functioning; line ... See more keywords
Chromosome Changes in Soma and Germ Line: Heritability and Evolutionary Outcome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13040602
Abstract: The origin and inheritance of chromosome changes provide the essential foundation for natural selection and evolution. The evolutionary fate of chromosome changes depends on the place and time of their emergence and is controlled by… read more here.
Keywords: soma germ; chromosome changes; germ line; chromosome ... See more keywords