Results 71 to 80 of about 245,662 (288)

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

GM-CSF Inhibits c-Kit and SCF Expression by Bone Marrow-Derived Dendritic Cells. [PDF]

, 2017
Stem cell factor (SCF), the ligand of c-kit, is a key cytokine for hematopoiesis. Hematopoietic precursors express c-kit, whereas differentiated cells of hematopoietic lineage are negative for this receptor, with the exception of NK cells, mast cells ...
Adachi, Alloatti, Ashman, Balan, Banchereau, Bar-On, Barnden, Bonetti, Borg, Breton, Broudy, Broz, Burgdorf, Cavanagh, Cebrian, Di Rosa, Dubois, Eash, Filippi, Gallucci, Guilliams, Haniffa, Heinrich, Helft, Hogquist, Hotchkiss, Huang, Inaba, Kassianos, Kingston, Krishnamoorthy, Lacombe, Lennartsson, Li, Liu, Liu, Lundberg, Lundberg, Lutz, Mensen, Merad, Merad, Mildner, Miller, Nagase, Nair, Oriss, Palucka, Parretta, Pastille, Politikos, Ponzetta, Quinci, Reber, Reith, Ricart, Roskoski, Russell, Saft, Sallusto, Sallusto, Sapoznikov, Sathe, Shortman, Sozzani, Sozzani, Szyska, Testa, van de Laar, von Bonin, Vremec, Wang, Waskow, Welham, Welker, Yang, Yen, Zanoni, Zelenay, Zou   +79 more
core   +2 more sources

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

Molecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel, Peyman Zarrineh, Nathnael T. Tuffa, Jigar H. Sheth, Sumitra Mohan, Mudassar Iqbal, Sankari Nagarajan   +6 more
wiley   +1 more source

Developmental Defects of Enamel and Dental Caries in Pediatric Patients with Chronic Kidney Disease–Mineral Bone Disorders

Applied Sciences
Chronic kidney disease (CKD) is an extremely widespread pathology characterized by numerous metabolic alterations, including impairments of calcium–phosphorus and of vitamin D metabolisms, which lead to a condition known as CKD–mineral and bone disorders (CKD-MBDs).
Micaela Costacurta, Manuela Di Lauro, Kevin Cornali, Raffaella Docimo, Annalisa Noce   +4 more
openaire   +4 more sources

Skeletal immaturity, rostral sparing, and disparate hip morphologies as biomechanical causes for Legg-Calvé-Perthes’ disease [PDF]

, 2016
Legg-Calvé-Perthes' (Perthes') disease is a developmental disease of the hip joint that may result in numerous short and long term problems. The etiology of the disease remains largely unknown, but the mechanism is believed to be vascular and/or ...
Acheson, Acheson, Adler, Allen, Anderson, Arie, Atsumi, Bahmanyar, Barker, Beals, Berg, Bergmann, Bergmann, Bergmann, Bohr, Brown, Bull, Burwell, Burwell, Caffey, Calvé, Camargo, Cameron, Canavese, Cannon, Catterall, Catterall, Choo, Chung, Churchill, Coyle, Crock, Currey, Danforth, Delclaux, Dillman, Donohue, Douglass, Duff, Ebong, Eckerwall, Edvardsen, Eijer, Eijer, Emr, Ezoe, Faraj, Fisher, García Mata, Gaskin, Gautier, Girdany, Goff, Gordon, Gray, Grzegorzewski, Guembecker, Güngör, Hailer, Hall, Hall, Hall, Hall, Hall, Hall, Harrison, Harrison, Harrison, Herndon, Herring, Herring, Hirano, Hofstaetter, Hong, Inoue, Isaac, Iwasaki, Joseph, Joseph, Joseph, Joseph, Kallio, Kamegaya, Kandzierski, Kataoka, Katz, Katz, Kawahara, Kawahara, Kealey, Kealey, Kemp, Kenet, Kim, Kim, Kim, Kim, Kitoh, Koob, Kristmundsdottir, Kristmundsdottir, Kristmundsdottir, Krul, Lappin, Laron, Larson, Lauritzen, Lee, Legg, Ljunggren, Lloyd-Roberts, Loder, Loder, Lubovsky, Madan, Margetts, McQuade, Mickelson, Moberg, Molloy, Moseley, Moulton, Nelitz, O'Higgins, Ogden, Osman, Osorio, Park, Perry, Perry, Perry, Perry, Perry, Perry, Perry, Perry, Perry, Perthes, Pillai, Pringle, Purry, Rab, Ralston, Rao, Rayfield, Rayner, Reynolds, Richmond, Rowe, Ruff, Salmaso, Salmingo, Salter, Sankar, Sharma, Shore, Smedley, Smith, Stuart, Stulberg, Suehiro, Suehiro, Tanner, Tardieu, Tardieu, Terjesen, Thompson, Thompson, Théron, Tomita, Toogood, Trueta, Tucker, Tutt, Ueo, Upadhyay, Upadhyay, Vasseur, Vaverka, Vila-Verde, Vosmaer, Wang, Weiner, Wiig, Wiig, Wijesekera, Winkleby, Wright, Wynne-Davies, Yoshida, Zarco, Zhang   +191 more
core   +2 more sources

COMP–PMEPA1 axis promotes epithelial‐to‐mesenchymal transition in breast cancer cells

Molecular Oncology, EarlyView.
This study reveals that cartilage oligomeric matrix protein (COMP) promotes epithelial‐to‐mesenchymal transition (EMT) in breast cancer. We identify PMEPA1 (protein TMEPAI) as a novel COMP‐binding partner that mediates EMT via binding to the TSP domains of COMP, establishing the COMP–PMEPA1 axis as a key EMT driver in breast cancer.
Konstantinos S. Papadakos, Gilar Gorji‐bahri, Lejla Gradjan, Julia Zajac, Kacper Gil, Yvonne Thokozile Nduku, Anna M. Blom   +6 more
wiley   +1 more source

Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. [PDF]

, 2018
Deficiency of ribosomal proteins (RPs) leads to Diamond Blackfan Anemia (DBA) associated with anemia, congenital defects, and cancer. While p53 activation is responsible for many features of DBA, the role of immune system is less defined.
Bibikova, Elena, Danilova, Nadia, Lin, Shuo, Sakamoto, Kathleen M, Wilkes, Mark, Youn, Min-Young   +5 more
core   +2 more sources

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Mesenchymal stem cell-based tissue regeneration therapies for periodontitis

Regenerative Therapy, 2020
Periodontitis is commonly observed and is an important concern in dental health. It is characterized by a multifactorial etiology, including imbalance of oral microbiota, mechanical stress, and systemic diseases such as diabetes mellitus.
Takehito Ouchi, Taneaki Nakagawa
doaj   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source