Results 121 to 130 of about 9,417,161 (263)

National Human Genome Research Institute

The National Human Genome Research Institute (NHGRI) has many accolades to its credit, not the least being their work on sequencing the human genome. They have made substantial contributions to every sector of genomic research since their founding in ...

core  

The tale of the human genome

, 2002
review of THE COMMON THREAD: A STORY OF SCIENCE, POLITICS, ETHICS AND THE HUMAN GENOME, by John Sulston and Georgina ...
Brenner, Sydney
core  

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

Genome Medicine
Background Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute.
Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah J. Lindsay, Qin Qin Huang, Erwan Delage, Sana Amanat, Hilary S. Wong, Helen V. Firth, Matthew E. Hurles, Michael A. Simpson, Elizabeth J. Radford, Hilary C. Martin   +12 more
doaj   +1 more source

Mutant p53R273H disrupts PDPK1 homodimerization and contributes to PDPK1 activation

Molecular Oncology, EarlyView.
How mutant p53R273H drives AKT signaling is unclear. We show that p53R273H, but not wild‐type, directly binds PDPK1 via a mutation‐dependent conformational change. This interaction disrupts inhibitory PDPK1 homodimerization and enhances AKT phosphorylation.
Mei Chee Lim, Alvin Kunyao Guo, Yoko Itahana, Srinivasaraghavan Kannan, Valerie Goh, Mingmin Ong, Terina Yan Wen Tay, Weiying Ye, Sabhashina Radha Krishnan, Jun Nishiyama, Chandra S Verma, Koji Itahana   +11 more
wiley   +1 more source

A Fast and Sensitive Algorithm for Aligning ESTs to the Human Genome

, 2002
Introduction The Human Genome Project is an international collaboration, designed to investigate the genetic complexity of humans. Initially, the roughly three billion nucleotides of the human genome were elucidated (Celera Genomics , International ...
Jun Ogasawara, To The Human Genome, Shinichi Morishita   +2 more
core  

K-mer analysis of long-read alignment pileups for structural variant genotyping

Nature Communications
Accurately genotyping structural variant (SV) alleles is crucial to genomics research. We present a novel method (kanpig) for genotyping SVs that leverages variant graphs and k-mer vectors to rapidly generate accurate SV genotypes.
Adam C. English, Fabio Cunial, Ginger A. Metcalf, Richard A. Gibbs, Fritz J. Sedlazeck   +4 more
doaj   +1 more source

Targeting the EpCAM‐AXL axis to overcome drug resistance in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells often evade therapy by hijacking signaling pathways. We reveal that cleaved EpCAM (sEpCAM) stabilizes the oncogenic protein AXL, driving NF‐κB and STAT3‐mediated chemoresistance. This EpCAM‐AXL axis identifies a high‐risk patient subset with poor prognosis.
Alexa Guerrero‐Alba, Mark Shacker, Timothy P. Fleming, Michael A. Smith, Ross M. Bremner, Narendra V. Sankpal   +5 more
wiley   +1 more source

Measuring (Mis)trust in the age of COVID-19: viewpoints of vaccine clinical trial participation among individuals living with sickle cell disease

BMC Public Health
Background COVID-19 vaccine efficacy was determined by the participation of individuals from diverse backgrounds in clinical trials. While these trials recruited participants with chronic conditions, little is known about how sentiments of mistrust ...
Khadijah Abdallah, Kiana Amini, Hasmin C. Ramirez, Madison Keller, Diba Seddighi, Marilyn S. Baffoe-Bonnie, Shameka Thomas, Vence L. Bonham, Ashley J. Buscetta   +8 more
doaj   +1 more source

Engineering IL‐4 resistant proinflammatory human myeloid cells for cancer immunotherapy

Molecular Oncology, EarlyView.
We developed a scalable workflow to generate proinflammatory human myeloid cells. CRISPR/Cas9‐edited CD34+ hematopoietic stem and progenitor cells were expanded and differentiated with M‐CSF. Deletion of STAT6 or STAT6/NFKB1 enhanced macrophage proinflammatory gene expression and cytokine secretion in the presence of IL‐4 while maintaining antibody ...
Theresa Barberi, Alan D. Friedman
wiley   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source