Results 51 to 60 of about 5,020 (198)

Twists in the fibrodysplasia ossificans progressiva story challenge and expand our understanding of BMP biology

The Journal of Clinical Investigation, 2022
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare, debilitating disease in which heterotopic bone is formed in certain soft tissues. A gain-of-function variant in the cytoplasmic domain of the activin A receptor type I (ACVR1) exists in all ...
Michael T. Collins
doaj   +1 more source

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma [PDF]

Nature Genetics, 2014
Diffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome.
Taylor, Kathryn, Mackay, Alan, Truffaux, Nathalène, Butterfield, Yaron, Morozova, Olena, Philippe, Cathy, Castel, David, Grasso, Catherine, Vinci, Maria, Carvalho, Diana, Carcaboso, Angel, de Torres, Carmen, Cruz, Ofelia, Mora, Jaume, Entz-Werle, Natacha, Ingram, Wendy, Monje, Michelle, Hargrave, Darren, Bullock, Alex, Puget, Stéphanie, Yip, Stephen, Jones, Chris, Grill, Jacques   +22 more
openaire   +8 more sources

Loss of Lepr in Fibroblasts Drives Tumor Development by Promoting Macrophage Infiltration

Advanced Science, EarlyView.
TNFα and TGFβ signaling reprograms Lepr+ fibroblasts toward a LeprnegMmphigh inflammatory CAF (iCAF) state, with downregulation of the Tcf21‐Lepr axis contributing to this transition. Lepr loss induces Csf3, which contributes to the enhanced macrophage‐recruiting capacity of these iCAFs, thereby promoting tumor development. Thus, inflammatory signaling
Manyu Song, Wuqi Yang, Bangran Qi, Liyuan Hou, Xu Yang, Jiuzhi Xu, Shengyuan Tian, Shuiling Jin, Lu Yu, Zhengquan Yu, Min Deng, Jiaqiang Huang, Suoqin Jin, Cong Lv   +13 more
wiley   +1 more source

Fop-Acvr1 Signals By Multiple Modalities In The Developing Zebrafish [PDF]

, 2019
Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder characterized by skeletal malformations and progressive extraskeletal ossification. All cases of FOP are caused by activating mutations in the GS or kinase domains of the type I
Allen, Robyn S
core  

How Activin A Became a Therapeutic Target in Fibrodysplasia Ossificans Progressiva

Biomolecules
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodic yet cumulative heterotopic ossification (HO) of skeletal muscles, tendons, ligaments, and fascia. FOP arises from missense mutations in Activin Receptor type
Dushyanth Srinivasan, Martin Arostegui, Erich J. Goebel, Kaitlin N. Hart, Senem Aykul, John B. Lees-Shepard, Vincent Idone, Sarah J. Hatsell, Aris N. Economides   +8 more
doaj   +1 more source

Follicle Stimulating Hormone in Cattle Breeding: Fundamentals, Innovations, and Scope

Animal Research and One Health, EarlyView.
FSH is crucial in cattle reproduction, with exogenous administration enhancing breeding and embryo production. Recombinant FSH offers advantages over pituitary‐extracted variants, including fewer injections, reduced stress, and safer production. These innovations improve breeding efficiency, optimize reproductive outcomes, and contribute to sustainable
Muhammad Shahzad, Hubdar Ali Kolachi, Jesse Oluwaseun Ayantoye, Xiaomeng Zhang, Muhammad Usman Mehmood, Rajilan Hilali Shanga, Pengcheng Wan, Xueming Zhao   +7 more
wiley   +1 more source

Recent Topics in Fibrodysplasia Ossificans Progressiva [PDF]

Endocrinology and Metabolism, 2018
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissues in soft tissues, such as skeletal muscle, ligament, and tendon.
Takenobu Katagiri, Sho Tsukamoto, Yutaka Nakachi, Mai Kuratani   +3 more
doaj   +1 more source

Spatiotemporal Expression of ARRDC5 in Mammalian Spermatogenesis

Andrology, EarlyView.
ABSTRACT Background Spermiogenesis is the final phase of sperm development during which haploid round spermatids transform into specialized spermatozoa and occurs across distinct stages of sperm production in the seminiferous epithelium. Abnormalities in this process lead to malformations and an inability of sperm to fertilize eggs.
LeeLa D. Robinson, Jon M. Oatley
wiley   +1 more source

ACVR1 Mutations in DIPG: Lessons Learned from FOP [PDF]

Cancer Research, 2014
Abstract Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the ...
Taylor, K, Vinci, M, Bullock, A, Jones, C   +3 more
openaire   +3 more sources

Janus kinase inhibitors after ruxolitinib failure in myelofibrosis: A systematic review and pooled analysis of phase 3 efficacy and integrated safety across clinical trials and real‐world evidence

British Journal of Haematology, EarlyView.
Summary Ruxolitinib remains first‐line standard of care for symptomatic myelofibrosis, but resistance/intolerance develops in most patients. Three Janus kinase inhibitors (JAKis) have entered the post‐ruxolitinib space via distinct pivotal trials. We systematically searched prospective trials evaluating JAKi in refractory adults with myelofibrosis ...
Andrea Duminuco, Patrick Harrington, Elena Torre, Hillary Catellani, Novella Pugliese, Matteo Pacilli, Annalisa Santisi, Arianna Sbriglione, Giuseppe A. Palumbo   +8 more
wiley   +1 more source