Results 121 to 130 of about 743,811 (309)

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

Human Genome Variation
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p ...
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano   +8 more
doaj   +1 more source

The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project. [PDF]

Hum Genomics, 2023
Capps B, Chadwick R, Lederman Z, Lysaght T, Mills C, Mulvihill JJ, Oetting WS, Winship I, HUGO Committee on Ethics, Law and Society.   +9 more
europepmc   +1 more source

Tumor B‐cell infiltration in platinum‐treated advanced muscle‐invasive urothelial carcinoma

Molecular Oncology, EarlyView.
Bladder tumors with higher pretreatment memory B‐cell infiltration were linked to longer survival after cisplatin chemotherapy, but not carboplatin. These tumors also showed more organized immune structures (tertiary lymphoid structures) and a shared pro‐inflammatory B‐cell‐rich community, suggesting that memory B cells may help identify patients most ...
Konrad Stawiski, Júlia Perera‐Bel, Alejo Rodriguez‐Vida, Nuria Juanpere, Jihyun Lee, Daniel E. Michaud, Jennifer L. Guerriero, Kent W. Mouw, Aristotelis Bamias, Filipe L. F. Carvalho, Joaquim Bellmunt   +10 more
wiley   +1 more source

Weakening the nuclear envelope: Lamin B receptor in melanoma metastasis

Molecular Oncology, EarlyView.
LBR‐driven nuclear fragility supports melanoma invasion. A: Melanocyte presents low LBR (Lamin B Receptor) levels, maintaining nuclear integrity and lamina‐chromatin tethering. B: During malignant progression, upregulation of LBR clusters at the INM (Inner Nuclear Membrane) during confined migration causes local lamina weakening and cholesterol ...
Francesca Lorenzini, Maria Caterina Mione   +1 more
wiley   +1 more source

Harvesting the fruits of the first stage of the Primate Genome Project. [PDF]

Zool Res, 2023
Guo YT, Shao Y, Bi X, Zhang BL, Wu H, Zhou Y, Li ML, Yu L, Zhang G, Wu DD, Qi XG.   +10 more
europepmc   +1 more source

The Human Genome Project [PDF]

IUBMB Life, 2001
openaire   +2 more sources

Inhibition of cyclin‐dependent kinases 12/13 using CT7439 as a treatment for colorectal cancer with CDK12 upregulation

Molecular Oncology, EarlyView.
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington, Divya L. Dayanidhi, Mohammad Zokaasadi, John B. Mantyh, Pelumi D. Olawuni, Gabrielle Rupprecht, Jeremy M. Force, Shannon McCall, Ashwani K. Bahl, David S. Hsu, Jason A. Somarelli   +10 more
wiley   +1 more source

Saffold virus exploits integrin αvβ8 and sulfated glycosaminoglycans as cooperative attachment receptors for infection

Nature Communications
Saffold virus (SAFV), a member of the species Cardiovirus saffoldi within the Picornaviridae family, causes acute respiratory and gastrointestinal illnesses as well as hand, foot, and mouth disease.
Takako Okuwa, Toshiki Himeda, Kyousuke Kobayashi, Namiko Nomura, Kouichi Utani, Satoshi Koike, Akira Nakamura, Masaya Higuchi   +7 more
doaj   +1 more source

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

Molecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq, Marc Terrones, Felicia Rodrigues Fortes, Anne Schepers, Alessia Denis, Christophe Deben, Ken Op de Beeck, Guy Van Camp, Geert Vandeweyer   +8 more
wiley   +1 more source

A large and diverse collection of bovine genome sequences from the Canadian Cattle Genome Project

, 2015
Background The Canadian Cattle Genome Project is a large-scale international project that aims to develop genomics-based tools to enhance the efficiency and sustainability of beef and dairy production.
Moore, Stephen, Schenkel, Flavio, De Pauw, Mary, Coros, Colin, Sargolzaei, Mehdi, Liao, Xiaoping, Basarab, John A., Miller, Stephen P., Stothard, Paul, Arantes, Adriano S., Crowley, John J., Plastow, Graham S.   +11 more
core   +1 more source