Results 101 to 110 of about 6,796 (211)

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Orphanet Journal of Rare Diseases, 2020
Background Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a ...
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao   +13 more
doaj   +1 more source

Enhanced Osteogenesis of Adipose-Derived Stem Cells by Regulating Bone Morphogenetic Protein Signaling Antagonists and Agonists. [PDF]

, 2016
UnlabelledAlthough adipose-derived stem cells (ASCs) are an attractive cell source for bone tissue engineering, direct use of ASCs alone has had limited success in the treatment of large bone defects.
Aghaloo, Tara L, Bezouglaia, Olga, Cui, Zhong-Kai, Fan, Jiabing, Fartash, Armita, Guo, Mian, Im, Choong Sung, Kim, Soyon, Lee, Min, Patel, Nikhil, Wang, Cun-Yu, Wu, Benjamin M   +11 more
core   +2 more sources

cIMPACT‐NOW update 11: Proposal on adaptation of diagnostic criteria for IDH‐ and H3‐wildtype diffuse high‐grade gliomas and for posterior fossa ependymal tumors

Brain Pathology, Volume 36, Issue 1, January 2026.
Abstract The Consortium to Inform Molecular and Practical Approaches to Central Nervous System Tumor Taxonomy (cIMPACT‐NOW) updates provide guidelines for the diagnosis of central nervous system (CNS) tumors and suggestions for future World Health Organization (WHO) classification.
Pieter Wesseling, David Capper, Guido Reifenberger, Chitra Sarkar, Cynthia Hawkins, Arie Perry, Bette Kleinschmidt‐DeMasters, Takashi Komori, Werner Paulus, Vani Santosh, Martin van den Bent, Michael Weller, Stefan M. Pfister, Uri Tabori, Dominique Figarella‐Branger, Brent A. Orr, David N. Louis   +16 more
wiley   +1 more source

Another Acvr1 Purification For Fragment Screening And Co-Crystallisation

, 2018
A rather unsuccessful purification, but nevertheless, enough for three crystal plates to follow up compound ...
Adamson, Roslin, Matteucci, Mizio, Brennan, Paul, Bullock, Alex   +3 more
openaire   +1 more source

Major transcriptome re-organisation and abrupt changes in signalling, cell cycle and chromatin regulation at neural differentiation in vivo [PDF]

, 2014
Here, we exploit the spatial separation of temporal events of neural differentiation in the elongating chick body axis to provide the first analysis of transcriptome change in progressively more differentiated neural cell populations in vivo.
Abranches, Akai, Altschul, Amijee, Arbeitman, Aubert, Bel-Vialar, Benjamini, Bradford, Brown, Chitnis, Delfino-Machín, Deschamps, Deschenes, Diez del Corral, Diez del Corral, Dittmar, Eblaghie, Fior, Goodwin, Hamburger, Henrique, Irizarry, Jares, Kuhns, Landeira, Lessard, Li, Lobjois, Lunn, Martin, Miettinen, Minowada, Mitiku, Olivera-Martinez, Ozbudak, Ozsolak, Park, Patel, Perry, Rae, Rae, Schurch, Smyth, Smyth, Stavridis, Stern, Storey, Sultan, Tsakiridis, Tzouanacou, van der Vlag, Wilcock, Willnow, Wilson, Wu, Zhang, Zhao   +57 more
core   +5 more sources

Efficacy of Momelotinib in Myelofibrosis Patients: Results From a Multicenter Study

European Journal of Haematology, Volume 116, Issue 1, Page 23-30, January 2026.
ABSTRACT Momelotinib, a novel JAK1/2 inhibitor with inhibitory activities on activin A receptor type I, has shown breakthrough clinical efficacy in patients with myelofibrosis (MF) and anemia, a disease‐related manifestation of challenging management. In this retrospective real‐life multicenter Italian study, we investigated the safety and efficacy of ...
Maria Carmen Martorelli, Novella Pugliese, Maria Di Perna, Danilo De Novellis, Assunta Lombardi, Laura De Fazio, Giuseppina Loglisci, Ilaria Peluso, Matteo Molica, Carolina Copia, Alessandra Ricco, Antonella Bruzzese, Francesco Mendicino, Vincenza De Fazio, Teresa Maria Santeramo, Rosario Bianco, Giuseppe Monaco, Raffaele Fontana, Roberto Guariglia, Bianca Serio, Serena Luponio, Anna Maria Della Corte, Antonella Malandrini, Valentina Giudice, Ferdinando Frigeri, Giuseppe Tarantini, Attilio Guarini, Massimo Gentile, Pellegrino Musto, Mario Annunziata, Nicola Di Renzo, Marco Rossi, Catello Califano, Fabrizio Pane, Carmine Selleri   +34 more
wiley   +1 more source

ACVR1-M4K2158 dataset and purification of TNIK and BMPR1A

, 2019
The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada, Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no.
Adamson, Roslin, Brennan, Paul, Bullock, Alex   +2 more
openaire   +1 more source

Genetic variants in anti-Mullerian hormone and anti-Mullerian hormone receptor genes and breast cancer risk in Caucasians and African Americans [PDF]

, 2014
Anti-Mullerian hormone (AMH) regulates ovarian folliculogenesis by signaling via its receptors, and elevated serum AMH levels are associated with an increased risk of breast cancer. No previous studies have examined the effects of genetic variants in AMH-
Dorgan, Joanne F., Nan, Hongmei, Rebbeck, Timothy R.   +2 more
core  

Development of the SIOPE DIPG network, registry and imaging repository : a collaborative effort to optimize research into a rare and lethal disease [PDF]

, 2017
Diffuse intrinsic pontine glioma (DIPG) is a rare and deadly childhood malignancy. After 40 years of mostly single-center, often non-randomized trials with variable patient inclusions, there has been no improvement in survival.
Bailey, S, Barkhof, F, Baugh, J, Biassoni, V, Bison, B, Calmon, R, Cannarozzo, A, Castel, D, Chaney, B, Colditz, N, Cruz, O, Damen-Korbijn, CM, De Jongh, D, De Wolf, R, Deak, L, Emmerik, J, Entz-Werle, N, Fouladi, M, Gandola, L, Garami, M, Gerber, N, Gielen, GH, Gil-da-Costa, MJ, Giraud, G, Grill, J, Grundy, R, Hargrave, DR, Hauser, P, Hayden, T, Hoffmann, M, Holm, S, Hulleman, E, Jacobs, S, Jadrijevic-Cvrlje, F, Janssens, GO, Jones, C, Jones, DT, Kaspers, GJ, Kattamis, A, Kebudi, R, Kitanovski, L, Kivivuori, SM, Kramm, CM, Leblond, P, Lieverst, JA, Lopez-Aguilar, E, Massimino, M, members of the SIOPE DIPG Network, ., Morales La Madrid, A, Noltes, J, Nysom, K, Pears, J, Pentikainen, V, Perek-Polnik, M, Rutkauskiene, G, Sanchez Aliaga, E, Shats, L, Slavc, I, Sturm, D, Sumerauer, D, Thorarinsdottir, HK, Torsvik, IK, Van Dijk, J, Van Gool, S, van Vuurden, DG, Vandertop, WP, Varlet, P, Veldhuijzen van Zanten, SE, von Bueren, AO, Warmuth-Metz, M, Zapata-Tarres, M, Zheludkova, O   +71 more
core   +5 more sources

Co-Crystallisation Of Acvr1 With Three Compounds - Fine Screen

, 2018
The SGC is a registered charity (number 1097737) that receives funds from AbbVie, Bayer Pharma AG, Boehringer Ingelheim, Canada Foundation for Innovation, Eshelman Institute for Innovation, Genome Canada, Innovative Medicines Initiative (EU/EFPIA) [ULTRA-DD grant no.
Adamson, Roslin Jane, Matteucci, Mizio, Brennan, Paul, Bullock, Alex   +3 more
openaire   +1 more source