Results 51 to 60 of about 248,446 (274)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Genomic selection in oil palm (Elaeis guineensis Jacq.) [PDF]

, 2014
Genomic selection (GS) can increase the genetic gain in plants. In perennial crops, this can be achieved via shortened breeding cycles and increased selection intensity. Our objective was to obtain the first empirical estimate of GS accuracy in oil palm (
Bouvet, Jean-Marc, Cochard, Benoît, Cros, David, Denis, Marie, Durand-Gasselin, Tristan, Flori, Albert, Nouy, Bruno, Omoré, Alphonse, Pomies, Virginie, Riou, Virginie, Sanchez, Leopoldo, Suryana, Edyana   +11 more
core  

DCAF13 Safeguards Hematopoietic Stem Cells via RRS1‐Regulated Ribosome Biogenesis

Advanced Science, EarlyView.
This study establishes DCAF13 as an essential regulator for hematopoietic stem cell (HSC) function. Its deletion in mice causes lethal pancytopenia and HSC depletion. Mechanistically, DCAF13 interacts with RRS1 and mediates its non‐degradative K27‐linked ubiquitination, thereby stabilizing RRS1 to maintain ribosome biogenesis and protein translation ...
Mengke Li, Yuxin Wu, Shuai Zhou, Peipei Tang, Jiaming Wei, Ling Liu, Zhenyi Wang, Deyang Shi, Shengnan Yuan, Qingyu Zhang, Shihui Wang, Qing Zhang, Huan Zhao, Rui Zhang, Yingying Wang, Shiwei Yang, Xiangli Chen, Xiaojing Shi, Guangzhi Liu, Yuwei Zhang, Jinming Li, Xu Dong Zhang, Rick F Thorne, Dongping Wei, Zumin Zhu, Song Chen   +25 more
wiley   +1 more source

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]

, 2016
PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik, CA Wassif, Daniel S. Ory, DE Sleat, DM Jordan, F Chang, FD Porter, GR Oliver, H Börnig, H Jahnova, HJ Kwon, HR Davis Jr, IA Adzhubei, Igor B. Zhulin, JA Tennessen, JD Retief, JE Dickerson, JM White, K Katoh, KA King, M Lynch, M Stampfer, MC Patterson, MT Vanier, MT Vanier, MT Vanier, NO Stitziel, O Adebali, Ogun Adebali, PC Ng, PC Ng, RD Finn, S Castellana, S Guindon, S Nusca, SB Ng, SF Altschul, SH Katsanis, SR Sunyaev, U Omasits, X Jiang, X Yan, Y Choi, Z Wang   +43 more
core   +3 more sources

Clarifying Mendelian vs non-Mendelian inheritance

GENETICS
Abstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Susan Strome, Needhi Bhalla, Rohinton Kamakaka, Upasna Sharma, William Sullivan   +4 more
openaire   +4 more sources

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, EarlyView.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. [PDF]

, 2018
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care ...
Bjonnes, Andrew, Briere, Lauren C, Carmichael, Nikkola, Cassa, Christopher A, Chopra, Sameer S, Fay, Christopher J, Feldweg, Anna, Fieg, Elizabeth, Frank, Alexander, Frank, Natasha Y, Goessling, Wolfram, Green, Robert C, Gupta, Vandana A, Haghighi, Alireza, Hanna, Meredith, Klein, Ophir D, Kooshesh, Kameron, Krier, Joel B, Leshchiner, Ignaty, Liao, Eric, Lincoln, Sharyn, Loscalzo, Joseph, Lucia, Stephanie, Maas, Richard L, MacRae, Calum A, Mannstadt, Michael, Mohanty, Anwoy, Nowak, Catherine B, Ouahed, Jodie, Pantazi, Angeliki, Patsopoulos, Nikolaos A, Perroni, Victoria, Perry, Hazel, Qiu, Haiyan, Raychaudhuri, Soumya, Sanchez-Lara, Pedro A, Seidman, Christine E, Snapper, Scott B, Stitziel, Nathan O, Stoler, Joan M, Sunyaev, Shamil R, Sutti, Sheila, Sweetser, David A, Söylemez, Onuralp, Toth-Petroczy, Agnes, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM), Valerius, Jamie, Vuzman, Dana   +47 more
core  

Evolution in Mendelian populations [PDF]

Bulletin of Mathematical Biology, 1931
The frequency of a given gene in a population may be modified by a number of conditions including recurrent mutation to and from it, migration, selection of various sorts and, far from least in importance, were chance ...
openaire   +3 more sources

Single‐Cell Atlas of Subchondral Bone Marrow Lesions Reveals Proteostasis Dysfunction as a Druggable Mechanism for Early Osteoarthritis

Advanced Science, EarlyView.
This study reveals that abnormal mechanical stress downregulates the expression of HSP70 and impairs proteasome function in osteoarthritic bone cells, leading to misfolded collagen I accumulation and ER stress. When intracellular proteostasis capacity is exceeded, USP19 mediates the secretion of misfolded proteins into the extracellular space ...
Hailun Xu, Ting He, Yu Qian, Jia Li, Bowei Ni, Xiaojie Xu, Huanbo Wang, Peng Wang, Guoqing Cao, Siqi Ying, Guangyu Ding, Rong Wang, Zenghui Gu, Wei Li, Zhentao Man, Houfeng Zheng, Zhaohua Zhu, Zhen Li, Qingjun Meng, Chao Zheng, Liu Yang   +20 more
wiley   +1 more source

A cyclical switch of gametogenic pathways in hybrids depends on the ploidy level

Communications Biology
The cellular and molecular mechanisms governing sexual reproduction are conserved across eukaryotes. Nevertheless, hybridization can disrupt these mechanisms, leading to asexual reproduction, often accompanied by polyploidy. In this study, we investigate
Dmitrij Dedukh, Anatolie Marta, Ra-Yeon Myung, Myeong-Hun Ko, Da-Song Choi, Yong-Jin Won, Karel Janko   +6 more
doaj   +1 more source