Results 131 to 140 of about 13,351 (224)

Nine independentF9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline [PDF]

, 2000
Ana Rebeca Jaloma‐Cruz, William A. Scaringe, Joni B. Drost, Stacy Roberts, Xuemin Li, Patricio Barros-N��ez, Luis E. Figuera, Fernando Rivas, Jos� Mar�a Cant�, Steve S. Sommer   +9 more
openalex   +1 more source

Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling

Journal of Genetic Counseling, Volume 31, Issue 6, Page 1249-1260, December 2022., 2022
Abstract Indications for genetic testing for inherited cancer syndromes are expanding both in the academic and the community setting. However, only a fraction of individuals who are candidates for testing pursue this option. Therefore, it is important to understand those factors that impact the uptake of genetic testing in individuals affected and ...
Christopher D. Pfledderer, Lisa H. Gren, Caren J. Frost, Irene L. Andrulis, Wendy K. Chung, Jeanine Genkinger, Gord Glendon, John L. Hopper, Esther M. John, Melissa Southey, Mary Beth Terry, Mary B. Daly   +11 more
wiley   +1 more source

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

, 1998
Zdeněk Sedláček, Roman Kodet, Vı́tězslav Křı́ž, E Seemanová, P Vodvářka, Petra Wilgenbus, J. Mareš, Albert J. Poustka, P Goetz   +8 more
openalex   +2 more sources

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family [PDF]

, 2000
Jennifer R. Thomson
openalex   +1 more source

Loss of the epithelial transcription factor grhl3 leads to variably penetrant developmental phenotypes in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Environmental influence is critical for embryogenesis but is significantly under‐appreciated under lab conditions, which are not typically designed to robustly test environmental variability. Here, we report environmental effects on the developmental phenotype of zebrafish lacking the transcription factor Grainyhead‐like 3 (grhl3 ...
Nishanthi Mathiyalagan, Travis K. Johnson, Zachary Di Pastena, Jarrad N. Fuller, Lee B. Miles, Sebastian Dworkin   +5 more
wiley   +1 more source

Rebuilding ships while at sea—Character individuality, homology, and evolutionary innovation

Journal of Morphology, Volume 284, Issue 1, January 2023., 2023
Building on a previous account of evolutionary innovation, I propose here that evolutionary novelties are those individualized characters that are not homologous to any characters in the ancestor. Integrating functional and structural perspectives, I argue that functional as well as structural considerations are important for character ...
Gerhard Schlosser
wiley   +1 more source

Lineage labeling with zebrafish hand2 Cre and CreERT2 recombinase CRISPR knock‐ins

Developmental Dynamics, EarlyView.
Abstract Background The ability to generate endogenous Cre recombinase drivers using CRISPR‐Cas9 knock‐in technology allows lineage tracing, cell type‐specific gene studies, and in vivo validation of inferred developmental trajectories from phenotypic and gene expression analyses. This report describes endogenous zebrafish hand2 Cre and CreERT2 drivers
Zhitao Ming, Fang Liu, Hannah R. Moran, Robert L. Lalonde, Megan Adams, Nicole K. Restrepo, Parnal Joshi, Stephen C. Ekker, Karl J. Clark, Iddo Friedberg, Saulius Sumanas, Chunyue Yin, Christian Mosimann, Jeffrey J. Essner, Maura McGrail   +14 more
wiley   +1 more source

MMT: Mutation Testing of Java Bytecode with Model Transformation -- An Illustrative Demonstration [PDF]

arXiv
Mutation testing is an approach to check the robustness of test suites. The program code is slightly changed by mutations to inject errors. A test suite is robust enough if it finds such errors. Tools for mutation testing usually integrate sets of mutation operators such as, for example, swapping arithmetic operators; modern tools typically work with ...
arxiv  

Calpain inhibition in a transgenic model of calpastatin overexpression facilitates reversal of myocardial hypertrophy

ESC Heart Failure, EarlyView.
Abstract Aims It was recently demonstrated that the intracellular signalling phosphatase calcineurin is subject to cleavage by the protease calpain, resulting in a truncated calcineurin fragment that is a strong inductor of myocardial hypertrophy. We now address the question of whether inhibition of calpain function in cardiomyocytes, and thereby ...
Gregor Sachse, Johanna Tennigkeit, Nikolaos Pagonas, Philipp Hillmeister, Ivo Buschmann, Martin Czolbe, Peter Nordbeck, Joachim Schmitt, Daniel Patschan, Oliver Ritter   +9 more
wiley   +1 more source

Hereditary non-polyposis colorectal cancer (HNPCC): Cancer patterns in germline mutation (hMSH2, hMLH1) positive (M+) and mutation negative (M−) families

, 1998
LKF Temple, Bharati Bapat, Lisa Madlensky, Mark Redston, Tadaaki Hiruki, Z. Cohen, RS McLeod, S Gallinger   +7 more
openalex   +1 more source