Results 51 to 60 of about 563,152 (335)

Gamma Heavy Chain Disease [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018
Gamma heavy chain disease (HCD) is a rare variant of HCD, a family of syndromes associated with or representing a B cell malignancy variant. The hallmark characteristic and the pathogenic mechanism of HCD is the synthesis of a mutant, misfolded immunoglobulin heavy chain (IgH) incapable of either reaching a quaternary conformation with the ...
Bianchi, Giada, Anderson, Kenneth C
openaire   +3 more sources

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

JACC: Basic to Translational Science, 2018
Summary: A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes.
Kai-Chun Yang, MD, Astrid Breitbart, MD, Willem J. De Lange, PhD, Peter Hofsteen, PhD, Akiko Futakuchi-Tsuchida, BS, Joy Xu, MSE, Cody Schopf, BS, Maria V. Razumova, PhD, Alex Jiao, PhD, Robert Boucek, MD, Lil Pabon, PhD, Hans Reinecke, PhD, Deok-Ho Kim, PhD, J. Carter Ralphe, MD, Michael Regnier, PhD, Charles E. Murry, MD, PhD   +15 more
doaj   +1 more source

Cellular Phenotypic Transformation in Heart Failure Caused by Coronary Heart Disease and Dilated Cardiomyopathy: Delineating at Single-Cell Level

Biomedicines, 2022
Heart failure (HF) is known as the final manifestation of cardiovascular diseases. Although cellular heterogeneity of the heart is well understood, the phenotypic transformation of cardiac cells in progress of HF remains obscure.
Luojiang Zhu, Wen Wang, Changzhen Ren, Yangkai Wang, Guanghao Zhang, Jianmin Liu, Weizhong Wang   +6 more
doaj   +1 more source

Expression of thyroglobulin on follicular dendritic cells of thyroid mucosa-associated lymphoid tissue (MALT) lymphoma [PDF]

, 2009
Reportedly, thyroid mucosa-associated lymphoid tissue (MALT) lymphoma is closely associated with Hashimoto's thyroiditis. However, it remains unknown which antigen is closely associated with thyroid MALT lymphoma.
Akagi, Tadaatsu, Kobayashi, Keita, Mannami, Tomohiko, Miyake, Takayoshi, Munemasa, Mitsuru, Sakugawa, Sumie Takase, Shinagawa, Katsuji, Tanimoto, Mitsune, Yoshino, Tadashi   +8 more
core   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Immunoglobulin heavy chain gene rearrangements in patients with Gaucher disease [PDF]

Journal of Medical Biochemistry, 2018
Background: Several studies support the evidence of increased incidence of hematological complications in Gaucher disease including monoclonal and polyclonal gammopathies and blood malignancies, especially multiple myeloma.
Rodić Predrag, Lakočević Milan, Pavlović Sonja, Karan-Đurašević Teodora, Kostić Tatjana, Suvajdžić-Vuković Nada, Šumarac Zorica, Petakov Milan, Janić Dragana   +8 more
doaj  

Variable domain N-linked glycosylation and negative surface charge are key features of monoclonal ACPA: implications for B-cell selection

, 2018
Autoreactive B cells have a central role in the pathogenesis of rheumatoid arthritis (RA), and recent findings have proposed that anti-citrullinated protein autoantibodies (ACPA) may be directly pathogenic.
Amara, Khaled, Baeten, Dominique, Gabay, Cem, Gronwall, Caroline, Israelsson, Lena, Klareskog, Lars, Lanzavecchia, Antonio, Lloyd, Katy A., Lundberg, Karin, Lundstrom, Susanna L., Malmstrom, Vivianne, Mueller, Daniel L., Piccoli, Luca, Reed, Evan, Steen, Johanna, Titcombe, Philip J., Zhou, Diana, Zubarev, Roman A.   +17 more
core   +2 more sources

Single cell analysis reveals the involvement of the long non-coding RNA Pvt1 in the modulation of muscle atrophy and mitochondrial network [PDF]

, 2019
Long non-coding RNAs (lncRNAs) are emerging as important players in the regulation of several aspects of cellular biology. For a better comprehension of their function, it is fundamental to determine their tissue or cell specificity and to identify their
Alessio, Enrico, Bertoli, Alessandro, Buson, Lisa, Cagnin, Stefano, Chemello, Francesco, Grespi, Francesca, Lanfranchi, Gerolamo, Martini, Paolo, Massimino, Maria L, Millino, Caterina, Pacchioni, Beniamina, Peggion, Caterina, Romualdi, Chiara, Scorrano, Luca   +13 more
core   +1 more source

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

Molecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian, Sriraam Sivachandran, Melissa Galati, Brandon Ramchatesingh, Hibo Rijal, Johnny Hanna, Elena Netchiporouk, May Chergui, Margaret Redpath, Samy Abou Setah, Ivan V. Litvinov   +10 more
wiley   +1 more source

Impact of \u3cem\u3eMYH6\u3c/em\u3e Variants in Hypoplastic Left Heart Syndrome [PDF]

, 2016
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown.
Benson, D. Woodrow, Goetsch, Mary A., Hidestrand, Mats, Hidestrand, Pip M., Kim, Min-Su, Liang, Huan-Ling, Lough, John, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Tomita-Mitchell, Aoy, Tweddell, James S.   +13 more
core   +2 more sources