Results 81 to 90 of about 449,868 (304)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Diphenylhydantoin (phenytoin)-induced chronic pulmonary disease

Lung India, 2009
Drug-induced respiratory diseases are difficult to diagnose and therefore usually not identified, probably underestimated and under-reported. We report a case of diphenylhydantoin/phenytoin-induced chronic pulmonary disease in a 62-year-old male patient ...
Dixit Ramakant, Dixit Kalpana, Nuwal Paras, Banerjee Arunima, Sharma Sidharth, Dave Lokendra   +5 more
doaj  

Methods of Assessment and Clinical Relevance of QT Dynamics [PDF]

, 2005
The dependence on heart rate of the QT interval has been investigated for many years and several mathematical formulae have been proposed to describe the QT interval/heart rate (or QT interval/RR interval) relationship. While the most popular is Bazett’s
Agata, Musialik-Lydka, Anna, Sliwinska, Beata, Sredniawa, Piotr, Jarski, Zbigniew, Kalarus   +4 more
core  

The effect of salubrinal on the endoplasmic reticulum stress pathway in heat‐stressed spermatogonial cells in vitro

FEBS Open Bio, EarlyView.
This study investigates the protective role of salubrinal against heat‐induced endoplasmic reticulum (ER) stress in mouse spermatogenic cells (GC1 and GC2). By modulating the ER stress pathway, salubrinal alleviates cellular stress and supports spermatogenic cell survival, suggesting its potential as a therapeutic candidate for heat‐related infertility.
Suna Karadeniz Saygili, Mustafa Oztatlici, Mahmut Kemal Ozbilgin   +2 more
wiley   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

Plasmapheresis in thyrotoxicosis: a single-center case series

Journal of Medical Case Reports
Background Plasmapheresis represent an alternative therapeutic option for hyperthyroidism with thyroid storm or refractory cases. It provides a rapid decrease in plasma thyroid hormones and anti-thyroid antibodies. The aim of this paper was to report our
I. Rami, D. Zerrouki, I. Assarrar, S. Rouf, H. Latrech   +4 more
doaj   +1 more source

Drug reaction with eosinophilia and systemic symptoms (DRESS) with severe and atypical lung involvement

Radiology Case Reports, 2020
Drug reaction with eosinophilia and systemic symptoms is a rare and potentially fatal drug hypersensitivity reaction. Reactions include skin eruption, fever, hematologic abnormalities (eosinophilia or atypical lymphocytosis), enlarged lymph nodes, and/or
Diego Armando Guerrero Gómez, MD, Sara París Zorro, MD, Wilmer Aponte Barrios, MD, Jorge Alberto Carrillo Bayona, MD   +3 more
doaj   +1 more source

Psychosocial and Biological Factors Contributing to Body Weight Gain in Schizophrenia [PDF]

, 2011
Overweight and obesity are frequently reported to be a significant issue in schizophrenia resulting in the inherent complications of these disorders.
Pai, NB, Vella, SC
core   +2 more sources

6-thioguanine treatment in inflammatory bowel disease: A critical appraisal by a European 6-TG working party [PDF]

, 2006
Recently, the suggestion to use 6-thioguanine (6-TG) as an alternative thiopurine in patients with inflammatory bowel disease (IBD) has been discarded due to reports about possible (hepato) toxicity. During meetings arranged in Vienna and Prague in 2004,
A. Teml, A.A. van Bodegraven, Al Hadithy AF, Artlich A, Bean RHD, Buffet C, C.J.J. Mulder, Carter MJ, Daniel F, De Boer N, de Boer NK, de Boer NK, de Jong D, Derijks LJ, Dervieux T, Dubinsky MC, Ferlitsch A, Fonseca V, Gane E, Gearry RB, H. Vogelsang, Haboubi NY, Herrlinger KR, Herrlinger KR, Herrlinger KR, J. Seiderer, Jones MC, K.R. Herrlinger, Katzka DA, Lilleyman JS, M. Lukas, M. Schwab, Marinaki AM, McBride KL, N.K.H. de Boer, Naber AH, P. Knoflach, Russmann S, Rutgeerts P, S. Almer, S.W. van der Merwe, Sandborn W, Schaeffeler E, Seiderer J, Shastri S, T. Ochsenkühn, Teml A, Teml A, Teml A, Tiede I, van Dieren JM, W. Petritsch, W. Reinisch   +52 more
core   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source