Results 201 to 210 of about 392,962 (310)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

open access: yesBritish Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal   +10 more
wiley   +1 more source

Phenotype‐specific immune profiles and outcomes in childhood autoimmune neutropenia: A 20‐year cohort study

open access: yesBritish Journal of Haematology, EarlyView.
Summary Childhood autoimmune neutropenia (AIN) encompasses heterogeneous entities; phenotype‐specific immunological profiles and their relationship to infection outcomes remain incompletely defined. To characterise clinical, immunological and long‐term outcomes across distinct phenotypes of childhood AIN.
Ioanna Saougou   +5 more
wiley   +1 more source

Unravelling distinct proteome changes in two maize inbreds with contrasting stalk-lodging resistance upon drought. [PDF]

open access: yesFront Plant Sci
Arce RC   +4 more
europepmc   +1 more source

Diagnosis and management of neutropenia in adults: Expert guidance

open access: yesBritish Journal of Haematology, EarlyView.
Severe neutropenia can result from decreased production of neutrophil precursors in the bone marrow, as in the case of severe congenital neutropenia, or from increased utilization of neutrophils or their accelerated destruction as for drug‐induced neutropenia or autoimmune neutropenia. Severe chronic neutropenia increases susceptibility to bacterial or
Karl Welte   +5 more
wiley   +1 more source

Distinctly altered TRPC3 and TRPC6 expression patterns in human Alzheimer's disease cortex and hippocampus

open access: yesBrain Pathology, EarlyView.
Divergent remodeling of TRPC channels occurs in Alzheimer's disease, with TRPC3 increased in neurons and reactive astrocytes and TRPC6 reduced in pyramidal neurons. These alterations may contribute to calcium dysregulation, neuroinflammation, and synaptic dysfunction during AD progression.
Xingyong Chen   +8 more
wiley   +1 more source

High-quality chromosome-scale genome assemblies of 29 maize inbred lines of European breeding relevance. [PDF]

open access: yesSci Data
Marcuzzo C   +16 more
europepmc   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

open access: yesClinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese   +11 more
wiley   +1 more source

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