Results 91 to 100 of about 254,836 (309)

Rare copy number variation in autoimmune Addison’s disease

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +1 more source

A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR

BioData Mining, 2011
Background Copy number variants are >1 kb genomic amplifications or deletions that can be identified using array platforms. However, arrays produce substantial background noise that contributes to high false discovery rates of variants.
Grayson Britney L, Aune Thomas M
doaj   +1 more source

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease [PDF]

, 2009
Marian A. J. Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P.A. Samijn, W. Ludo van der Pol, Farid Meggouh, Frank Baas   +7 more
openalex   +1 more source

Review for "Copy number variation of the <i>CCDC39</i> gene is associated with growth traits in Chinese cattle"

, 2021

openalex   +1 more source

Inhibition of CDK9 enhances AML cell death induced by combined venetoclax and azacitidine

Molecular Oncology, EarlyView.
The CDK9 inhibitor AZD4573 downregulates c‐MYC and MCL‐1 to induce death of cytarabine (AraC)‐resistant AML cells. This enhances VEN + AZA‐induced cell death significantly more than any combination of two of the three drugs in AraC‐resistant AML cells.
Shuangshuang Wu, Jianlei Zhao, Aaban Asfar Azmi, Avanti Gupte, Jenna Thibodeau, Shuang Liu, Jinli Yang, Guan Wang, Holly Edwards, Lisa A. Polin, Juiwanna Kushner, Sijana H. Dzinic, Kathryn White, Julie Boerner, Maik Hüttemann, Jay Yang, Yue Wang, Jeffrey W. Taub, Yubin Ge   +18 more
wiley   +1 more source

Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus [PDF]

, 2012
Michael Mueller, Paula Barros, Abigail S. Witherden, Amy L. Roberts, Zhou Zhang, Helmut Schaschl, C. Yung Yu, Matthew E. Hurles, Catherine Schaffner, R. Andres Floto, Laurence Gamé, Karyn Meltz Steinberg, Richard K. Wilson, Tina Graves, Evan E. Eichler, H. Terence Cook, Timothy J. Vyse, Timothy J. Aitman   +17 more
openalex   +1 more source

A synthetic benzoxazine dimer derivative targets c‐Myc to inhibit colorectal cancer progression

Molecular Oncology, EarlyView.
Benzoxazine dimer derivatives bind to the bHLH‐LZ region of c‐Myc, disrupting c‐Myc/MAX complexes, which are evaluated from SAR analysis. This increases ubiquitination and reduces cellular c‐Myc. Impairing DNA repair mechanisms is shown through proteomic analysis.
Nicharat Sriratanasak, Bodee Nutho, Worawat Wattanathana, Narumon Phaonakrop, Bunnatut Panasawatwong, Katharina Erlenbach‐Wuensch, Sittiruk Roytrakul, Regine Schneider‐Stock, Pithi Chanvorachote   +8 more
wiley   +1 more source

Editorial: Copy Number Variation in Rare Disorders

Frontiers in Genetics, 2022
Katalin Komlósi, Attila Gyenesei, Judit Bene   +2 more
doaj   +1 more source

Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source

Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss—A Pilot Study [PDF]

, 2022
Raffaella Cancello, Federica Rey, Stephana Carelli, Stefania Cattaldo, Jacopo Maria Fontana, Ilaria Goitre, Valentina Ponzo, Fabio Dario Merlo, Gianvincenzo Zuccotti, Simona Bertoli, Paolo Capodaglio, Simona Bo, Amelia Brunani   +12 more
openalex   +1 more source