Blood disorders and treatments

TopicLeading institutions, researchers & key papers

This cluster of papers focuses on the genetic basis and clinical manifestations of various neutropenia disorders, including Shwachman-Diamond syndrome, Kostmann disease, and Cohen syndrome. It explores the impact of mutations in genes such as ELANE, HAX1, GFI1, and SBDS on neutrophil development and function, as well as the implications for hematopoietic stem cell transplantation and G-CSF therapy. The research also delves into the molecular mechanisms underlying neutropenia and potential therapeutic targets.

127

Works

IDs:OpenAlex

How has Blood disorders and treatments's publication output changed over time?

ScholarIQpublication output · 2000–2024

Output grew0% over the shown period — from 1 works in 2000 to 1 in 2024.

2000200120062012201320152017201820202024

What are the most-cited papers on Blood disorders and treatments?

ScholarIQmost cited works

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Julia Skokowa, Gunnar Cario, Murat Uenalan, Axel Schambach, Manuela Germeshausen, Karin Battmer, Cornelia Zeidler, Ulrich Lehmann, Matthias Eder, Christopher Baum, Rudolf Grosschedl, Martin Stanulla, Michaela Scherr, Karl Welte

Nature Medicine. 20061,106 CitationsOPEN ACCESS

Requirement of Endogenous Stem Cell Factor and Granulocyte-Colony-Stimulating Factor for IL-17-Mediated Granulopoiesis

Paul Schwarzenberger, Weitao Huang, Ye Peng, Peter Oliver, Misty Manuel, Zili Zhang, Gregory Bagby, Steve Nelson, Jay K. Kolls

S38008053. 2000270 CitationsOPEN ACCESS

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

Marlène Pasquet, Christine Bellanné‐Chantelot, Suzanne Tavitian, Naïs Prade, Blandine Beaupain, Olivier LaRochelle, Arnaud Petit, Pierre‐Simon Rohrlich, Christophe Ferrand, Eric Van Den Neste, Hélène A. Poirel, Thierry Lamy, O Marie, Véronique Mansat‐De Mas, Jill Corre, Christian Récher, Geneviève Plat, Françoise Bachelerie, Jean Donadieu, Éric Delabesse

Blood. 2012210 Citations

Association of Neutrophil-to-Lymphocyte Ratio With Mortality and Cardiovascular Disease in the Jackson Heart Study and Modification by the Duffy Antigen Variant

Stephanie Kim, Melissa Eliot, Devin C. Koestler, Wen‐Chih Wu, Karl T. Kelsey

JAMA Cardiology. 2018201 CitationsOPEN ACCESS

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

Polina Stepensky, Montserrat Chacón-Flores, Katherine H. Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb NaserEddin, Talia Dor, Joel Charrow, Nuria Sánchez‐Puig, Orly Elpeleg

S112540174. 2017128 Citations