Results 111 to 120 of about 123,315 (302)
A novel germline mutation of KEAP1 (R483H) associated with a nontoxic multinodular goiter
Frontiers in Endocrinology, 2016 Background: A germline mutation of KEAP1 gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established.Patient Findings: We report a 47-year ...
Eijun Nishihara +11 more
doaj +1 more source
Tumour morphology predicts PALB2 germline mutation status [PDF]
, 2013 Fulltext embargoed for: 12 months post date of publicationBACKGROUND: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk.
John, EM +26 more
core +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Human Germline Mutation and the Erratic Evolutionary Clock
PLOS Biology, 2016 Abstract Our understanding of the chronology of human evolution relies on the “molecular clock” provided by the steady accumulation of substitutions on an evolutionary lineage. Recent analyses of human pedigrees have called this understanding into question, by revealing unexpectedly low germline mutation rates, which imply that ...
Moorjani, Priya +2 more
openaire +7 more sources
A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma.
, 2000 A description of a novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic ...
SCARPA, Aldo +10 more
core
, 2012 Introduction Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer.
Naveen Raj +4 more
core +1 more source
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
BMC Cancer, 2018 Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens +4 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi +6 more
wiley +1 more source