Results 71 to 80 of about 1,446 (177)

P225 Congenital hyaline fibromatosis syndrome: a case report of heterozygous antxr2 and literature review [PDF]

Abstracts, 2019
Introduction Juvenile hyaline fibromatosis is a rare hereditary disease characterized by deposits of a clear substance (hyaline) in the skin and other body tissues, it becomes apparent at birth or in infancy presenting with severe pain with movement, skin lesions & bumps , gingival hyperplasia, progressive joint contractures, and bone lesions.1 ...
Monica Salama, Sarah Kasha, Isabela Govor, Abdalla Hamza   +3 more
openaire   +1 more source

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy [PDF]

, 2020
Hyaline fibromatosis syndrome (HFS), resulting from ANTXR2 mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE).
Polak-Charcon, Sylvie, Weiss, Batia,, van Hoesel, Marliek,, Weiss, Batia, Roderick H.J. Houwen, Werner, Lael, Sabine Middendorp, Pode-Shakked, Ben, Spronck, Joey M. A.,, Somech, Raz,, Edward E.S. Nieuwenhuis, Dror S. Shouval, Sylvie Polak-Charcon, Shouval, Dror S.,, Shimshoni, Elee,, Talmi, Liron, Polak-Charcon, Sylvie,, Eren, Makbule,, Elee Shimshoni, Irit Sagi, Annick Raas-Rothschild, Pode-Shakked, Ben,, Eren, Makbule, van Rijn, Jorik M, Talmi, Liron,, Makbule Eren, Batia Weiss, van Rijn, Jorik M., Sagi, Irit, Shouval, Dror S., Liron Talmi, Aydemir, Yusuf,, Barshack, Iris,, Ben Pode-Shakked, Lael Werner, Shouval, Dror S, Marliek van Hoesel, Jorik M. van Rijn, Somech, Raz, Joey M.A. Spronck, Houwen, Roderick H. J.,, Barshack, Iris, Yusuf Aydemir, Shimshoni, Elee, Raz Somech, Aydemir, Yusuf, Werner, Lael,, Nieuwenhuis, Edward E. S., Nieuwenhuis, Edward E. S.,, H J Houwen, Roderick, van Rijn, Jorik M.,, Raas-Rothschild, Annick, Iris Barshack, Middendorp, Sabine, Sagi, Irit,, van Hoesel, Marliek, Spronck, Joey M A, Spronck, Joey M. A., Nieuwenhuis, Edward E S, Houwen, Roderick H. J., Raas-Rothschild, Annick,, Middendorp, Sabine,   +61 more
core   +1 more source

Reproductive tracts isolated from aged nulliparous Antxr2−/− female mice exhibit an altered morphology with severe fibrosis.

, 2012
(A) Comparison of reproductive tracts isolated from Antxr2+/+ and Antxr2−/− mice at one month and three months of age. Sexually mature, (three-month-old) Antxr2−/− uteri are shortened and thickened compared to Antxr2+/+.
Claire V. Reeves (172057), Xing Wang (154377), Joy Y. Vink (172070), John A. T. Young (172090), Jan K. Kitajewski (172096), Pelisa C. Charles-Horvath (172063), Valeriya Y. Borisenko (172078)   +6 more
core   +1 more source

Novel Approach to Overcome Osimertinib Resistance Using Bromodomain and Extra‐Terminal Domain Inhibitors

Cancer Science, Volume 116, Issue 5, Page 1392-1404, May 2025.
Our study found that epigenetic changes, particularly histone modifications regulating FGF1, contribute to osimertinib resistance. Targeting these modifications with BET inhibitors may offer new therapeutic strategies. ABSTRACT Osimertinib, a third‐generation EGFR‐tyrosine kinase inhibitor, is the first‐line therapy for lung cancer harboring EGFR ...
Yosuke Miyashita, Ken Tajima, Kenta Izumi, Naohisa Matsumoto, Daisuke Hayakawa, Ikuko Takeda Nakamura, Isana Katayama, Adityo Wibowo, Hironari Matsuda, Wira Winardi, Bagus Radityo Amien, Yoichiro Mitsuishi, Fumiyuki Takahashi, Kohta Nakamura, Ken Uchibori, Noriko Yanagitani, Takuo Hayashi, Kazuya Takamochi, Kenji Suzuki, Ryohei Katayama, Kazuhisa Takahashi   +20 more
wiley   +1 more source

ANTXR2 MIDAS metal ion bound by PA D683.

, 2013
Close-up view of the PA-ANTXR2 generated with Molscript (PDB # ITZN) [7]. The PA backbone is colored light blue with the D683 residue shown in cyan. The chelate Mg2+ ion is colored purple, the ANTXR2 Thr118 and Asp50 residues (mutated in this report) are
John A.T. Young (42988), Heather M. Scobie (42987)   +1 more
core   +1 more source

Role of human protein disulfide isomerase (PDI) in the redox regulation of anthrax receptor 2 (ANTXR2) [PDF]

, 2012
Anthrax is an acute infectious disease caused by B. anthracis, a gram-positive and spore-forming bacterium. Anthrax toxin is a tripartite AB toxin composed of a receptor binding/pore-forming moiety, protective antigen (PA), and two catalytic moieties ...
Alshrif, Naima Mohamed
core   +2 more sources

The myometrium is disrupted in aged nulliparous Antxr2−/− reproductive tracts.

, 2012
(A) Immunofluorescence for ∝-SMA (red) demonstrated well-defined circular and longitudinal myometrial cell layers that were beginning to disassociate in 6.5 week Antxr2−/− tissue.
Claire V. Reeves (172057), Xing Wang (154377), Joy Y. Vink (172070), John A. T. Young (172090), Jan K. Kitajewski (172096), Pelisa C. Charles-Horvath (172063), Valeriya Y. Borisenko (172078)   +6 more
core   +1 more source

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome

The Turkish Journal of Pediatrics
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues.
Tuğba Daşar, Hasibe Nesligül Gönen, Kemal Kösemehmetoğlu, Özlem Tekşam, Koray Boduroğlu, Gülen Eda Utine, Pelin Özlem Şimşek Kiper   +6 more
doaj   +1 more source

LRP5 and LRP6 are not required for protective antigen-mediated internalization or lethality of anthrax lethal toxin. [PDF]

PLoS Pathogens, 2007
Anthrax toxin (AnTx) plays a key role in the pathogenesis of anthrax. AnTx is composed of three proteins: protective antigen (PA), edema factor, and lethal factor (LF). PA is not toxic but serves to bind cells and translocate the toxic edema factor or LF
John J Young, Jennifer L Bromberg-White, Cassandra Zylstra, Joseph T Church, Elissa Boguslawski, James H Resau, Bart O Williams, Nicholas S Duesbery, Nicholas S Duesbery   +8 more
doaj   +1 more source

ANTXR2 Contact with PA Domain 2 Confers Sensitivity to PA^D683N-Mediated Intoxication

, 2013
(A) Triplicate samples of CHO-R1.1 cells transiently expressing ANTXR2, or ANTXR2 proteins with alterations in PA contacts to nonconserved ANTXR1 residues were incubated with 10−10 M LFN-DTA and 10−7 M PAD683N, or LFN-DTA only, and analyzed by flow ...
Darran J Wigelsworth (21911), John M Marlett (21912), John A. T Young (21918), Diane Thomas (21913), Marianne Manchester (21916), R. John Collier (21917), G. Jonah A Rainey (21914), D. Borden Lacy (21915), Heather M Scobie (21910)   +8 more
core   +1 more source