Accelerated Development With Increased Bone Mass and Skeletal Response to Loading Suggest Receptor Activity Modifying Protein-3 as a Bone Anabolic Target

Autor: Suruchi Pacharne, Matthew Livesey, Mahita Kadmiel, Ning Wang, Kathleen M. Caron, Gareth O. Richards, Tim M. Skerry

Publikováno v: Frontiers in Endocrinology, Vol 12 (2022)

Knockout technologies provide insights into physiological roles of genes. Studies initiated into endocrinology of heteromeric G protein-coupled receptors included deletion of receptor activity modifying protein-3, an accessory protein that alters lig

Externí odkaz: https://doaj.org/article/ba96097251e84f4a8aaf83a98fec095c

Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia

Autor: Nathalie Conte, Suruchi Pacharne, Allan Bradley, Konstantinos Tzelepis, Robert Andrews, Kosuke Yusa, Ignacio Varela, George S. Vassiliou, Claire Lynn, Jonathan L. Cooper, Oliver M. Dovey, Paul Green, Roland Rad, Annalisa Mupo, Mark J. Arends, Carolyn S. Grove, Penny Wright, M. S. Vijayabaskar

Publikováno v: Dovey, O M, Cooper, J L, Mupo, A, Grove, C S, Lynn, C, Conte, N, Andrews, R M, Pacharne, S, Tzelepis, K, Vijayabaskar, M S, Green, P, Rad, R, Arends, M, Wright, P, Yusa, K, Bradley, A, Varela, I & Vassiliou, G S 2017, ' Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia ', Blood, vol. 130, no. 17, pp. 1911–1922 . https://doi.org/10.1182/blood-2017-01-760595
Blood. 2017 Oct 26;130(17):1911-1922
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digital.CSIC. Repositorio Institucional del CSIC
instname

Dovey, Oliver M. et al.
NPM1 mutations define the commonest subgroup of acute myeloid leukemia (AML) and frequently co-occur with FLT3 internal tandemduplications (ITD) or, less commonly, NRAS or KRAS mutations. Co-occurrence of mutant NPM1 with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b2b32452ec30f7e5e1b096f3b6330d
https://doi.org/10.1182/blood-2017-01-760595

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts

Autor: Suruchi Pacharne, Konstantinos Tzelepis, V. Sathiaseelan, P. C. Campbell, Nicla Manes, George S. Vassiliou, David G. Kent, Elli Papaemmanuil, Annalisa Mupo, Francesco Iorio, Yu Hsuen Yang, Monika Seiler, Ruben Bautista, P. C. Wright, Alena Pance, Niccolo Bolli, Anant A. Agrawal, Silvia Buonamici

Publikováno v: Europe PubMed Central
Leukemia

Heterozygous somatic mutations affecting the spliceosome gene SF3B1 drive age-related clonal hematopoiesis, myelodysplastic syndromes (MDS) and other neoplasms. To study their role in such disorders, we generated knock-in mice with hematopoietic-spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7bd3eaea1ffb4b89d96648be502a07c

Research Resource: Haploinsufficiency of Receptor Activity-Modifying Protein-2 (Ramp2) Causes Reduced Fertility, Hyperprolactinemia, Skeletal Abnormalities, and Endocrine Dysfunction in Mice

Autor: Mahita Kadmiel, Suruchi Pacharne, Timothy M. Skerry, Manyu Li, Kimberly L. Fritz-Six, Gareth O. Richards, Kathleen M. Caron

Publikováno v: Molecular Endocrinology. 25:1244-1253

Receptor activity-modifying protein-2 (RAMP2) is a single-pass transmembrane protein that can regulate the trafficking, ligand binding, and signaling of several G protein-coupled receptors (GPCR). The most well-characterized role of RAMP2 is in the r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e6d1eb7997d1e3358fb47d4d466d68
https://doi.org/10.1210/me.2010-0400

Sf3b1 K700E Mutation Impairs Pre-mRNA Splicing and Definitive Hematopoiesis in a Conditional Knock-in Mouse Model

Autor: Manousos Koutsourakis, George S. Vassiliou, Shouyong Peng, Silvia Buonamici, Annalisa Mupo, David G. Kent, V. Sathiaseelan, Frances Law, Suruchi Pacharne, Elli Papaemmanuil, Ruben Bautista, Nicla Manes, Michael Seiler, Niccolo Bolli, Barry Rosen, Peter J. Campbell

Publikováno v: Blood. 126:140-140

Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by dysplastic hematopoiesis and peripheral blood cytopenias. Recently, somatic mutations affecting components of the spliceosomal machinery have been discovere

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::828aedaa3d22c012bca8339333e99720
https://doi.org/10.1182/blood.v126.23.140.140