Results 31 to 40 of about 2,067,653 (305)

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype. [PDF]

, 2019
Aortic calcification is an important independent predictor of future cardiovascular events. We performed a genome-wide association meta-analysis to determine SNPs associated with the extent of abdominal aortic calcification (n = 9,417) or descending ...
Bagchi, Aranya, Barnes, Hanna J, Bloch, Donald B, Bowden, Donald W, Budoff, Matthew, Buswell, Mary D, Buys, Emmanuel S, Campbell, Catherine Y, Criqui, Michael H, Debette, Stephanie, Erbel, Raimund, Feitosa, Mary F, Franceschini, Nora, Freedman, Barry I, Gudnason, Vilmundur, Guo, Xiuqing, Harris, Tamara, Hoffmann, Udo, Hwang, Shih-Jen, Johnson, Andrew D, Jöckel, Karl-Heinz, Kälsch, Hagen, Lindsay, Mark E, Lino Cardenas, Christian L, Lu, Lingyi, Malhotra, Rajeev, Mauer, Andreas C, Moebus, Susanne, Nicholson, Christopher J, Nigwekar, Sagar U, Nöthen, Markus M, O'Donnell, Christopher J, Pechlivanis, Sonali, Post, Wendy S, Rhee, David K, Rotter, Jerome I, Rourke, Caitlin O', Shelton, Georgia, Sigurdsson, Sigurdur, Sigurslid, Haakon H, Slocum, Charles, Smith, Albert V, Song, Ci, Thanassoulis, George, Wang, Judy, Wong, Quenna, Wunderer, Florian, Yao, Jie, Zapol, Warren M, Zhang, Xiaoling   +49 more
core   +1 more source

Expression of concern for global biomedical research by the human genome organization (HUGO)

Human Genomics
Cuts to US science funding will stall advances in genomics affecting public health, rare disease and cancer diagnostics and therapeutics in the US and around the world.
Ada Hamosh, Fabiana Arzuaga, Karen B. Avraham, Zilfalil Bin Alwi, Anne Bowcock, Sir John Burn, Piero Carninci, Collet Dandara, Iscia Lopes-Cendes, Leon Mutesa, Partha P. Majumder, Juergen K.V. Reichardt, Joris A. Veltman   +12 more
doaj   +1 more source

Genome sequence of Christensenella minuta DSM 22607T [PDF]

, 2017
Obesity influences and is influenced by the human gut microbiome. Here, we present the genome of Christensenella minuta, a highly heritable bacterial species which has been found to be strongly associated with obesity through an unknown biological ...
Hallsworth-Pepin, Kymberlie, Martin, John, Mitreva, Makedonka, Rosa, Bruce A, Wollam, Aye   +4 more
core   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

The Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby   +5 more
doaj   +1 more source

An intracellular transporter mitigates the CO2‐induced decline in iron content in Arabidopsis shoots

FEBS Letters, EarlyView.
This study identifies a gene encoding a transmembrane protein, MIC, which contributes to the reduction of shoot Fe content observed in plants under elevated CO2. MIC is a putative Fe transporter localized to the Golgi and endosomal compartments. Its post‐translational regulation in roots may represent a potential target for improving plant nutrition ...
Timothy Mozzanino, Meijie Li, Cécile Fizames, Mattia Adamo, Laurence Lejay, Christian Dubos, Matthieu Platre, Antoine Martin   +7 more
wiley   +1 more source

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular Genetics & Genomic Medicine, 2021
Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion.
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy   +20 more
doaj   +1 more source

Cyclin D1-mediated microRNA expression signature predicts breast cancer outcome [PDF]

, 2018
Background: Genetic classification of breast cancer based on the coding mRNA suggests the evolution of distinct subtypes. Whether the non-coding genome is altered concordantly with the coding genome and the mechanism by which the cell cycle directly ...
Addya, Sankar, Casimiro, Mathew C., Deng, Shengqiong, DiSante, Gabriele, Dong, Lin, Ertel, Adam, Gormley, Michael, Ju, Xiaoming, Li, Qinchuan, Pestell, Richard G., Pestell, Timothy G., Qiao, Jing, Tozeren, Ayden, Wang, Guangxue, Wang, Min, Yu, Zuoren, Zhao, Qian   +16 more
core   +2 more sources