Results 41 to 50 of about 125,953 (296)

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

Frontiers in Genetics, 2020
Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer.
Laire Schidlowski, Laire Schidlowski, Fernando Liebert, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Yuval Itan, Roberto Rosati, Roberto Rosati, Carolina Prando, Carolina Prando, Carolina Prando   +16 more
doaj   +1 more source

Workflow for the Implementation of Precision Genomics in Healthcare

Frontiers in Genetics, 2020
To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data.
Sanja Mehandziska, Aleksandra Stajkovska, Margarita Stavrevska, Kristina Jakovleva, Marija Janevska, Rodney Rosalia, Ivan Kungulovski, Zan Mitrev, Goran Kungulovski   +8 more
doaj   +1 more source

Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Recurrent pregnancy loss affects 1% to 2% of couples attempting childbirth. A large fraction of all cases remains idiopathic, which warrants research into monogenic causes of this distressing disorder.
Laura Kasak, Kristiina Rull, Tao Yang, Dan M. Roden, Maris Laan   +4 more
doaj   +1 more source

Mutated axon guidance gene PLXNB2 sustains growth and invasiveness of stem cells isolated from cancers of unknown primary

EMBO Molecular Medicine, 2023
The genetic changes sustaining the development of cancers of unknown primary (CUP) remain elusive. The whole‐exome genomic profiling of 14 rigorously selected CUP samples did not reveal specific recurring mutation in known driver genes.
Serena Brundu, Virginia Napolitano, Giulia Franzolin, Ettore Lo Cascio, Roberta Mastrantonio, Gabriele Sardo, Eliano Cascardi, Federica Verginelli, Sergio Sarnataro, Gennaro Gambardella, Alberto Pisacane, Alessandro Arcovito, Carla Boccaccio, Paolo M Comoglio, Enrico Giraudo, Luca Tamagnone   +15 more
doaj   +1 more source

An Effort to Use Human-Based Exome Capture Methods to Analyze Chimpanzee and Macaque Exomes [PDF]

PLoS ONE, 2012
Non-human primates have emerged as an important resource for the study of human disease and evolution. The characterization of genomic variation between and within non-human primate species could advance the development of genetically defined non-human primate disease models.
Limei Ouyang, Jing Wang, Zhuolin Gong, Betsy Ferguson, Hongli Du, Fei Ling, Mikkel H. Schierup, Xuejun Zhang, Xuejun Zhang, Xin Jin, Fei Sun, Xinzhong Wang, Liangdan Sun, Liangdan Sun, Yuhuan Meng, Juan Shen, Xiaoning Wang, Xiaoning Wang, Min Zhuo, Yuqi Zhu, Yanyi Wang, Hua Zhao, Xiaodong Fang, Mingze He, Guojie Zhang, Christina Hvilsom, Christina Hvilsom, Li Song, Jingjing Ren, Xiaoming Liu, Jian Wang, Thomas Mailund, Jianguo Hou, Fang Ji, Hans R. Siegismund, Jufang Wang, Boqing Liu, Yu Zhang, Jun Wang   +38 more
openaire   +6 more sources

Lessons learned about harmonizing survey measures for the CSER consortium

Journal of Clinical and Translational Science, 2020
Introduction: Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coordination across ...
Katrina A.B. Goddard, Frank A.N. Angelo, Sara L. Ackerman, Jonathan S. Berg, Barbara B. Biesecker, Maria I. Danila, Kelly M. East, Lucia A. Hindorff, Carol R. Horowitz, Jessica Ezzell Hunter, Galen Joseph, Sara J. Knight, Amy McGuire, Kristin R. Muessig, Jeffrey Ou, Simon Outram, Elizabeth J. Rahn, Michelle A. Ramos, Christine Rini, Jill O. Robinson, Hadley Stevens Smith, Margaret Waltz, Sandra Soo-Jin Lee   +22 more
doaj   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

Genome-Wide Association Study of Tacrolimus Pharmacokinetics Identifies Novel Single Nucleotide Polymorphisms in the Convalescence and Stabilization Periods of Post-transplant Liver Function

Frontiers in Genetics, 2019
After liver transplantation, the liver function of a patient is gradually restored over a period of time that can be divided into a convalescence period (CP) and a stabilizing period (SP).
Yuan Liu, Chengdong Zhang, Lei Li, Baochi Ou, Liyun Yuan, Tao Zhang, Junwei Fan, Zhihai Peng   +7 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source