Results 101 to 110 of about 911,373 (309)

Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindred1

Journal of Lipid Research, 1999
Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial ...
L. Haddad, I.N.M. Day, S. Hunt, R.R. Williams, S.E. Humphries, P.N. Hopkins   +5 more
doaj   +1 more source

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

Nature, 2021
Joshua Chiou, Ryan J. Geusz, Mei-Lin Okino, Jee Yun Han, Michael Miller, Rebecca Melton, Elisha Beebe, P. Benaglio, Serina Huang, Katha Korgaonkar, S. Heller, A. Kleger, Sebastian Preissl, David U. Gorkin, M. Sander, K. Gaulton   +15 more
semanticscholar   +1 more source

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source

A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

PLoS Genetics, 2009
There is considerable variability in the susceptibility of smokers to develop chronic obstructive pulmonary disease (COPD). The only known genetic risk factor is severe deficiency of alpha(1)-antitrypsin, which is present in 1-2% of individuals with COPD.
Sreekumar G Pillai, Dongliang Ge, Guohua Zhu, Xiangyang Kong, Kevin V Shianna, Anna C Need, Sheng Feng, Craig P Hersh, Per Bakke, Amund Gulsvik, Andreas Ruppert, Karin C Lødrup Carlsen, Allen Roses, Wayne Anderson, Stephen I Rennard, David A Lomas, Edwin K Silverman, David B Goldstein, ICGN Investigators   +18 more
doaj   +1 more source

Molecular population genetics of ref(2)P, a locus which confers viral resistance in Drosophila [PDF]

, 1996
Marta L. Wayne, Didier Contamine, Martin Kreitman   +2 more
openalex   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

Comparative population genetics of a mimicry locus among hybridizing Heliconius butterfly species [PDF]

, 2011
Nicola Chamberlain, Ryan I. Hill, Simon W. Baxter, Chris D. Jiggins, Marcus R. Kronforst   +4 more
openalex   +1 more source

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source