Results 251 to 260 of about 132,611 (311)

The IL‐10/IL‐6 Ratio and the Risk Score: Two Cytokines‐Based Predictors for Malignancy‐Associated Hemophagocytic Lymphohistiocytosis in Adults (M‐HLHa)

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT The predictive value of cytokines (CK) for malignancy‐associated adult hemophagocytic lymphohistiocytosis (M‐HLHa) remains uncertain. We evaluated a cytokine‐based Risk Score (RS) and the IL‐10/IL‐6 Ratio to predict M‐HLHa. Adult patients (n = 112) from the French HLH cohort (NCT02113917) with complete data for nine key HLH related CK measured
Coralie Bloch   +47 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Synthesis of thermostable artificial nicotinamide cofactors: carba-NAD<sup>+</sup> and carba-NADP. [PDF]

open access: yesRSC Chem Biol
Dsouza Z   +5 more
europepmc   +1 more source

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