Results 71 to 80 of about 163,193 (205)

Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations [PDF]

, 2007
Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2008FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses.
Detlev Schindler, Casado, José A., Bueren, Juan, Schindler, Detlev, Arleen D. Auerbach, Holger Hoehn, Schneider, Hildegard, Kornelia Neveling, Elsa Callén, Kalba, Reinhard, Berwick, Marianne, Jean Soulier, Hunt, Curtis, Pals, Gerard, Rosalina van Spaendonk, Gluckman, Eliane, Callén Moréu, Elsa, Joenje, Hans, Kalb, Reinhard, Batish, Sat Dev, Soulier, Jean, Juan Bueren, Hanenberg, Helmut, Helmut Hanenberg, C. Michel Zwaan, Linka, Yvonne, Winter, Johan P. de, Eliane Gluckman, Neveling, Kornelia, Yvonne Linka, Hans Joenje, Markus Grompe, Johan P. de Winter, Grompe, Markus, Zwaan, C. Michel, Reinhard Kalb, Hoehn, Holger, Auerbach, Arleen D., Jordi Surrallés, Ángeles Dasí, de Winter, Johan P., Dasí, Ángeles, Marianne Berwick, José A. Casado, Sat Dev Batish, Curtis Hunt, Van Spaendonk, Rosalina, Callén, Elsa, Hildegard Schneider, Batishb, Sat Dev, Gerard Pals, Bueren, J, Dasi, A, Neveling, K, Schindler, D, Hunt, C, Berwick, M, Hanenberg, H, Callen, E, Gluckman, E, de Winter, JP (Johan), Auerbach, AD, Zwaan, C.M., Surralles, Jordi, Schneider, H, van Spaendonk, RML (Rosalina), Joenje, H, Grompe, M, Hoehn, H, Casado, JA, Pals, G, Soulier, J, Surralles, J, Kalb, R, Batish, SD, Linka, Y   +75 more
core   +1 more source

Valproate-Induced Thrombocytopenia

Pediatric Neurology Briefs, 1994
A 14-year-old mentally retarded boy with seizures who presented with severe thrombocytopenia, macrocytic anemia and allergic dermatitis after treatment with valproate for 12 years is reported from the University of Louvain Medical School, Brussels ...
J Gordon Millichap
doaj   +1 more source

What's Your Diagnosis? A Case of Extreme Thrombocytosis in a Dog

Veterinary Clinical Pathology, EarlyView.
Stephanie F. Anderson, King Long Hannah Lee, Megan Dietz, Sarah Guess, Laura White, Mara S. Varvil   +5 more
wiley   +1 more source

Impact of Anemia and Comorbidity Burden on Disease Progression and Outcomes in Chronic Kidney Disease

Journal of Clinical Laboratory Analysis, Volume 40, Issue 17, September 2026.
This study evaluates the prognostic value of immuno‐hematological markers—including anemia status, RDW, hemoglobin levels, and multimorbidity burden—in predicting chronic kidney disease (CKD) progression among adult patients. Findings reveal that anemia and the presence of ≥ 2 comorbidities strongly amplify the risk of CKD progression and ...
Collince Odiwuor Ogolla, Stanslaus Musyoki, Lucy W. Karani, Phidelis Maruti   +3 more
wiley   +1 more source

Low Dose Daily Iron Supplementation Improves Iron Status and Appetite but not Anemia, Whereas Quarterly Anthelminthic Treatment Improves Growth, Appetite and Anemia in Zanzibari Preschool Children. [PDF]

, 2004
Iron deficiency and helminth infections are two common conditions of children in developing countries. The consequences of helminth infection in young children are not well described, and the efficacy of low dose iron supplementation is not well ...
Tielsch, James M., Chway, Hababu M, Tielsch, James M, Jape, Jape Khatib, Savioli, Lorenzo, Stoltzfus, Rebecca J, James M. Tielsch, Chway, Hababu M., Marco Albonico, Antonio Montresor, Rebecca J. Stoltzfus, Montresor, Antonio, Hababu M. Chway, Lorenzo Savioli, Jape Khatib Jape, Stoltzfus, Rebecca J., Albonico, Marco   +16 more
core   +1 more source

What Is Your Diagnosis? Leukocytosis With Abnormal WDF and WNR Scattergrams From the Sysmex XN‐1000V in a Dog

Veterinary Clinical Pathology, EarlyView.
Javier Martínez‐Caro, Marta Lemos, Josep Pastor   +2 more
wiley   +1 more source

Mechanistic Insights Into Hepatotoxicity‐Induced Liver Cirrhosis and Anemia: Iron Dysregulation, the Hepcidin–Ferroportin Axis, and Emerging Therapeutic Strategies

Organ Medicine, Volume 3, Issue 3, Page 171-185, September 2026.
Patients with alcohol‐associated liver cirrhosis or acetaminophen (APAP) toxicity frequently develop anemia with iron metabolism disturbances. Dysregulation of hepcidin–ferroportin signaling, along with inflammation, oxidative stress, hypoxia, impaired intestinal iron absorption, malnutrition, and gastrointestinal bleeding, contributes to anemia ...
Debabrata Dash, Raj Kumar Koiri
wiley   +1 more source

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

, 2015
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia.
Ludwig, L.S., Ulirsch, J.C., Tchaikovskii, V., Shi, J., Wakabayashi, A., Lindsley, R.C., Bejar, R., Sankaran, V.G., Bishop, D.F., Lovitch, S.B., Steensma, D.P., Kadirvel, S.   +11 more
core   +1 more source

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

The FEBS Journal, Volume 293, Issue 17, Page 5140-5144, September 2026.
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

Neurophysiological Characteristics of Nitrous Oxide‐Induced Polyneuropathy: A Case Series

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background Nitrous oxide (N2O) misuse is a growing health concern, with N2O‐induced neurological disorders increasingly reported across Europe. Among these, N2O‐induced polyneuropathy (PNP) can lead to permanent deficits, yet its neurophysiological characteristics remain inconsistently described.
Tanya Elisabeth Bentley, Volker Limmroth, Maximilian Zimmermann, Johannes Fabian Holle   +3 more
wiley   +1 more source