Results 121 to 130 of about 3,402 (214)

A quantitative dissection of the DNA‐binding properties of pathogenic GATA1 mutants

The FEBS Journal, EarlyView.
Transcription factor activity is influenced by cell context, accessibility of target sequences, and co‐factor recruitment. Quantitatively characterizing the consequences of individual mutations in the transcription factors or their target sequences remains technically challenging. Zambo et al. use mutant GATA1‐ATP2B4 binding to illustrate an innovation
Kaoru Takasaki
wiley   +1 more source

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

British Journal of Haematology, EarlyView.
Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin   +8 more
wiley   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source

Recombinant ADAMTS13 Ameliorates Liver Injury and Improves Hepatic Microcirculation in a Murine Acute‐on‐Chronic Liver Failure Model

Hepatology Research, EarlyView.
ABSTRACT Aim The therapeutic significance of recombinant a disintegrin‐like and metalloprotease with thrombospondin type 1 motif 13 (rADAMTS13) in acute‐on‐chronic liver failure (ACLF) remains unclear. We aimed to investigate the therapeutic effects of rADAMTS13 in a murine model of ACLF‐like liver injury.
Jun‐ichi Hanatani, Norihisa Nishimura, Kosuke Kaji, Masayoshi Takami, Hiroyuki Masuda, Hiroaki Takaya, Koh Kitagawa, Shinya Sato, Tadashi Namisaki, Hitoshi Yoshiji   +9 more
wiley   +1 more source

Prevalence and Risk Factors of Systemic Lupus Erythematosus in Patients With Chronic Cutaneous Lupus: A Bicentric Study Employing Three Classification Criteria

International Journal of Dermatology, EarlyView.
This bicentric study of 95 CCLE patients shows SLE prevalence (21.1%–31.6%) varies significantly by classification criteria. Arthralgia was a consistent independent risk factor across all systems. Our findings support the implementation of systematic risk‐stratified screening protocols for CCLE patients, with particular attention to joint symptoms and ...
Noureddine Litaiem, Syrine Nahali, Maroua Slouma, Mourad Mokni, Faten Zeglaoui   +4 more
wiley   +1 more source

Treatment of advanced cutaneous squamous cell carcinoma with cemiplimab in elderly multimorbid patients – a case series

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Patryk Porebski, Katharina Amschler, Michael P. Schön, Kai‐Martin Thoms   +3 more
wiley   +1 more source

Thrombocytopenia in Pregnancy: A 5‐Year Analysis of Characteristics and Practices From a Tertiary Academic Center

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Moderate‐to‐severe thrombocytopenia (platelet count < 100 × 109/L) occurs in fewer than 1% of pregnancies, posing management challenges, particularly surrounding eligibility for neuraxial anesthesia. Although recent anesthesia guidelines recommend a platelet threshold ≥ 70 × 109/L, outcomes data applying these recommendations in ...
Mackenzie E. Lemieux, Ming Y. Lim
wiley   +1 more source

Impact of Heat Block Drying on Morphologic Preservation and Staining of Peripheral Blood Smears

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Morphologic evaluation of the peripheral blood smear is critical for diagnosis and ruling out certain hematologic disorders. While air‐drying is standard, some laboratories may use heat blocks to expedite drying. Excessive heat may induce morphologic artifacts, but there is a lack of systematic literature on this practice ...
Ryan C. Shean, Nicolas Mavromatis, Gary Isom, Angie Turnbow, Lauren Pearson   +4 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Haematological and histopathological monitoring of monosodium glutamate–supplemented feeding in rainbow trout (Oncorhynchus mykiss): A possible modelling for a single health approach

Journal of Fish Biology, EarlyView.
Abstract The aim of this study was to investigate the potential effects of monosodium glutamate (MSG), a known flavour enhancer added to many ready‐to‐eat foods, as a feed additive in rainbow trout (Oncorhynchus mykiss). Evaluating the effects of MSG on aquatic organisms will fill the knowledge gap in this field by monitoring the haematological indices
Gonca Alak, Furkan Bedir, Aslı Çilingir Yeltekin, Serkan Yıldırım, Eylül Ecrin Ekiz, Nisa Gül Yiğit, Esat Mahmut Kocaman, Metin Kiliçlioğlu, Tuba Akbey, Elif Zeynep Özçelik, Koray Koşar, Muhammet Alaeddin Ekiz, Arzu Ucar, Ahmet Atmaca, Melihat Pilgi, Veysel Parlak, Muhammed Atamanalp   +16 more
wiley   +1 more source