National Human Genome Research Institute

Aberrant one-carbon metabolism and ancestral genetics underlie edematous severe acute malnutrition

Edematous severe childhood malnutrition is distinct from the non-edematous form of malnutrition and remains a major cause of under-five mortality. Its etiology remains unclear, although aberrant one-carbon metabolism has emerged as a potential contributor. Here, we assess genetic...

Post-colonial human admixture and natural selection: disentangling signals in complex demographic contexts

Natural selection and admixture are defining population genetic features of modern human populations, yet their interaction has only recently emerged as a major focus in human evolutionary genomics. While the influence of natural selection on population structure and trait divers...

Single‐cell RNA sequencing of peripheral blood defines two immunological subtypes of Sjögren's disease distinguished by anti‐SSA antibodies and aberrant B cell populations

OBJECTIVES: Sjögren's disease (SjD) is a heterogeneous autoimmune disorder characterized by substantial clinical and molecular diversity. This heterogeneity raises key questions regarding the existence of distinct pathogenic mechanisms underlying disease subtypes. The objective o...

Divergent complication patterns of type 2 diabetes in African individuals who are lean versus overweight or obese: a multi-cohort analysis

Abstract Aims/hypothesis Nearly 40% of African adults with type 2 diabetes are lean (BMI <25 kg/m 2 ). Emerging evidence suggests that type 2 diabetes in African individuals who are lean may represent a distinct phenotype driven by impaired insulin secretion rather than insulin r...

The Inv(16) Oncogene CBFB::MYH11 is Required for the Survival of Leukemia Cells in the Blood and Spleen, but not the Bone Marrow

Inversion of chromosome 16 [inv(16)] generates the fusion gene CBFB::MYH11 (CM) and is one of the most common chromosomal rearrangements in Acute Myeloid Leukemia (AML). Expression of CM is required for leukemia initiation. Patients with inv(16) at diagnosis invariably have the r...

Tramadol Co‐Administration with Oxycodone or Hydrocodone Increases Opioid Burden without Improving Postoperative Pain Control

Tramadol is frequently co-prescribed with oxycodone or hydrocodone after surgery under the assumption that its dual mechanism of action provides an opioid-sparing benefit. However, evidence supporting this practice is limited and inconsistent. We conducted a secondary analysis of...

An autoinflammatory CDC42 variant M45L demonstrates the mechanism of pyrin inflammasome activation

CDC42 is an evolutionarily conserved guanosine triphosphatase (GTPase) regulating critical cellular and immune processes. Variants in CDC42 therefore cause a spectrum of developmental phenotypes, including hematological and immunological symptoms. Here, we identify a previously u...