Kerry W. Lannert

• MLS (ASCP)
• Research Scientist 4 at University of Washington

Background von Willebrand factor (VWF) is a large plasma protein critical in hemostasis and thrombosis. Defects in VWF cause the inherited autosomal bleeding disorder von Willebrand disease (VWD). One critical function of VWF is to bind circulating coagulation factor VIII (FVIII) and protect it from rapid clearance. Type 2N VWD is a recessive form...

The coagulation protein von Willebrand Factor (VWF) is known to be elevated in pregnancy. However, the timing and nature of changes in VWF and associated parameters throughout pregnancy are not well understood. To better understand the changes in VWF provoked by pregnancy, we studied VWF-associated parameters in samples collected over the course of...

Despite widespread advances in DNA sequencing, the functional consequences of most genetic variants remain poorly understood. Multiplexed assays of variant effect can measure the function of variants at scale but cannot readily be applied to the ~10% of human genes encoding secreted proteins. Here we develop a flexible, scalable human cell surface...

Introduction Coagulation factor IX (FIX) is a serine protease critical in hemostasis. We previously comprehensively characterized the impact of FIX missense variants on FIX secretion and carboxylation-sensitive antibody phenotypes using multiplexed surface-tethering of extracellular proteins (MultiSTEP), our mammalian cell display system for interr...

Despite widespread advances in DNA sequencing, the functional consequences of most genetic variants remain poorly understood. Multiplexed Assays of Variant Effect (MAVEs) can measure the function of variants at scale, and are beginning to address this problem. However, MAVEs cannot readily be applied to the ∼10% of human genes encoding secreted pro...

Objectives Mechanisms underlying burning mouth syndrome (BMS) remain unclear. Evidence of changes in oral mucosal epithelial cells has been found in patients with BMS. This case-control study aimed to investigate whether BMS cases have evidence of impaired mucosal barrier function compared with controls without BMS, focusing on the role of salivary...

Background. Hemophilia A and B are rare X-linked bleeding disorders caused by deficiencies in factor VIII (FVIII) and factor IX (FIX) respectively. Males with hemophilia are usually hemizygous for disease-causing genetic variants in the F8 or F9 genes. Females with disease-causing variants (female genetic carriers) are usually heterozygous for a F8...

Purpose: Rh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts, such as sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal was to characterize RH genetic variation in multi-ethnic cohorts, with the focus on detecting RH...

Table S1. Genomic regions included in the 41 blood group gene targeted sequencing panel

Background The MNS blood group system is second in diversity only to the RH blood group system, with 46 described antigens. MNS system antigens are carried on glycophorins GPA and GPB that are products of the GYPA and GYPB genes, respectively. GYPA and GYPB are homologous paralogs which lie adjacent to each other on chromosome 4 in tandem with a th...

Background: ABO(H) is a carbohydrate blood group system expressed in multiple tissues including red blood cells, blood vessels, and mucosal surfaces. ABO is the largest known genetic modifier of plasma VWF level (VWF:Ag). It has been hypothesized that the effect of ABO on VWF is mediated by H glycan density. FUT2, the gene underlying Secretor pheno...

Tens of millions of donor and patient samples are tested yearly to establish blood type compatibility between donor and recipient and to protect recipients from blood-borne infectious diseases. Blood type testing, particularly donor testing, is traditionally based in centralized clinical laboratories. However, current blood typing methods are encum...

Background: The coagulation protein von Willebrand Factor (VWF) and its circulating partner protein, Factor VIII, are known to be elevated in pregnancy. However, the nature of changes in VWF which occur during pregnancy are not well understood. We previously presented results from a study of 46 healthy pregnancies in which we measured VWF antigen (...

Background Elevated levels of the critical coagulation glycoproteins von Willebrand Factor (VWF) and Factor VIII (FVIII) are associated with thrombovascular disease. VWF and FVIII levels are elevated in healthy pregnancy compared with the nonpregnant state, and further increases have been reported in pregnancies complicated by preeclampsia, a poten...

274 The ABO(H) carbohydrate blood group system is highly polymorphic in humans, with >200 ABO alleles described to date. The ABO gene encodes the glycosyltransferase, ABO, which has two main isoforms which generate blood group A or blood group B. Blood group O is the result of a non-functional ABO glycosyltransferase. ABO blood group is commonly im...

3314 ABO(H) is a carbohydrate blood group system primarily expressed on red cells, blood vessels, and mucosal surfaces. ABO blood group is known to influence von Willebrand Factor (VWF) levels, with low VWF associated with blood group O and increased diagnosis of von Willebrand Disease. Conversely, non-O blood group is associated with high VWF leve...

33 Levels of the hemostatic protein von Willebrand Factor (VWF) are known to increase markedly during pregnancy. The mechanism by which VWF levels are increased has long been thought to be due to estrogen stimulation of vascular endothelial cells to synthesize and release more VWF. We hypothesized an alternate scenario in which prolongation of VWF...