Results 251 to 260 of about 610,115 (295)

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T‐Cell Lymphoma

American Journal of Hematology, EarlyView.
ABSTRACT Nodal follicular helper T‐cell (TFH) lymphoma of the angioimmunoblastic (AITL) subtype has a dismal prognosis. Using whole‐exome sequencing (n = 124), transcriptomic (n = 78), and methylation (n = 40) analysis, we identified recurrent mutations in known epigenetic drivers (TET2, DNMT3A, IDH2R172) and novel ones (TET3, KMT2D).
Alyssa Bouska, Weiwei Zhang, Sunandini Sharma, Harald Holte, Rauf A. Shah, Waseem G. Lone, Mahfuza Afroz Soma, Ruimeng Yang, Xuxiang Liu, Syed Mehmood, Ravneet Singh Chawla, Luca Vincenzo Cappelli, Danilo Fiore, Qiang Gong, Tayla B. Heavican‐Foral, Jeffrey J. Cannatella, Catalina Amador, Aiza Arif, Lynette M. Smith, Soon Thye Lim, Choon Kiat Ong, Andrew L. Feldman, Ming‐Qing Du, Anamarija M. Perry, Laurence de Leval, Timothy C. Greiner, Kai Fu, Gunhild Trøen, Daniel Vodák, Sigve Nakken, Jan Delabie, David Weinstock, Stefano Pileri, Antonella Laginestra, KyeongJin Kim, Utpal Pajvani, Julie M. Vose, Dennis D. Weisenburger, Steven M. Horwitz, Sandeep Dave, Joseph Khoury, Giorgio Inghirami, Wing C. Chan, Javeed Iqbal   +43 more
wiley   +1 more source

Isolated thrombocytopenia as the initial manifestation of childhood-onset systemic lupus erythematosus: A case report. [PDF]

Medicine (Baltimore)
Abunejma FM, Jabareen M, Alhroub W, Qanaeer B, Zaro A, Alhroub A, Zaro A.   +6 more
europepmc   +1 more source

International Consensus Histopathological Criteria for Subtyping Idiopathic Multicentric Castleman Disease Based on Machine Learning Analysis

American Journal of Hematology, EarlyView.
ABSTRACT Idiopathic multicentric Castleman disease (iMCD) is a rare lymphoproliferative disorder classified into three recognized clinical subtypes—idiopathic plasmacytic lymphadenopathy (IPL), TAFRO, and NOS. Although clinical criteria are available for subtyping, diagnostically challenging cases with overlapping histopathological features highlight ...
Midori Filiz Nishimura, Tomoka Haratake, Yoshito Nishimura, Asami Nishikori, Remi Sumiyoshi, Hideki Ujiie, Yuri Kawahara, Tomohiro Koga, Masao Ueki, Dorottya Laczko, Eric Oksenhendler, David C. Fajgenbaum, Frits van Rhee, Atsushi Kawakami, Yasuharu Sato   +14 more
wiley   +1 more source

The 'autoimmunome' of centenarians. [PDF]

J Transl Autoimmun
Carrera-Bastos P, Plaza-Florido A, Santos-Lozano A, Borba V, Rodríguez-Romo G, García-Chico C, Lista S, Saco-Ledo G, Emanuele E, Shoenfeld Y, Lucia A.   +10 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Diffuse Alveolar Hemorrhage as the First Presentation of Systemic Lupus Erythematosus: A Case Report. [PDF]

Am J Case Rep
Later S, Abdelbagi M, Zaaroura A, Sherif RM, Aldebese KMYAAS, Eisa MM, Badawy MH.   +6 more
europepmc   +1 more source

Cardiovascular Health, Genetic Susceptibility, and the Risk of Incident Autoimmune Disorders in the UK Biobank: A Prospective Cohort Study. [PDF]

J Am Heart Assoc
Lin L, Shan Y, Lei F, Zhang J, Zhang L, Zhang XJ, Yao W, She ZG, Li H.   +8 more
europepmc   +1 more source

Diagnosis of rheumatic and autoimmune diseases dataset. [PDF]

Data Brief
Mahdi MF, Jahani A, Abd DH.
europepmc   +1 more source

Systemic lupus erythematosus as the paradigm for understanding the complex immune relationships and therapeutic opportunities for targeting complement in autoimmune diseases. [PDF]

Immunobiology
Holers VM.
europepmc   +1 more source