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Your search keyword '"Constance B. Gibb"' showing total 4 results
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4 results on '"Constance B. Gibb"'

1. Severe and moderate haemophilia A and B in US females

Author

Linda M. Gerber, J. M. Lefkowitz, Constance B. Gibb, D. M. Di Michele, Quanhong Ni, and A. Ganguly

Subjects
Male, Pediatrics, medicine.medical_specialty, Haemophilia A, Disease, Haemophilia, Hemophilia A, Hemophilia B, Severity of Illness Index, Hemorrhagic disorder, Factor IX, Risk Factors, Severity of illness, medicine, Humans, Haemophilia B, Registries, Genetics (clinical), Factor VIII, business.industry, Obstetrical bleeding, Retrospective cohort study, Hematology, General Medicine, medicine.disease, United States, Phenotype, Cytogenetic Analysis, Mutation, Quality of Life, Female, business
Abstract

Haemophilia A and B are rare X-lined hemorrhagic disorders that typically affect men. Women are usually asymptomatic carriers, but may be symptomatic and, rarely, also express severe (factor VIII (FVIII) or factor IX (FIX)

Published
2013

2. Mutation in the factor VII hepatocyte nuclear factor 4α-binding site contributes to factor VII deficiency

Author

Theresa M. Russell, Eleanor S. Pollak, Donna DiMichele, Constance B. Gibb, Rama D. Kudaravalli, J. Eric Russell, Paris Margaritis, and Xing-Wu Zheng

Subjects
Adult, Male, medicine.medical_specialty, Dizygotic twin, Factor VII Deficiency, DNA Mutational Analysis, Biology, medicine.disease_cause, Transfection, chemistry.chemical_compound, hemic and lymphatic diseases, Internal medicine, medicine, Twins, Dizygotic, Humans, Immunoprecipitation, Point Mutation, cardiovascular diseases, Longitudinal Studies, Promoter Regions, Genetic, Gene, Transcription factor, Mutation, Binding Sites, Factor VII, Base Sequence, Point mutation, Promoter, Hematology, General Medicine, Hep G2 Cells, Hepatocyte nuclear factors, Endocrinology, chemistry, Hepatocyte Nuclear Factor 4, Child, Preschool, HeLa Cells, Plasmids, Protein Binding
Abstract

Severe coagulant factor VII (FVII) deficiency in postpubertal dizygotic twin males results from two point mutations in the FVII gene, a promoter region T→C transition at -60 and a His-to-Arg substitution at amino acid 348; both mutations prevent persistence of plasma functional FVII. This report documents longitudinal laboratory measurements from infancy to adulthood of FVII coagulant activity (FVII:C) in the twin FVII-deficient patients; it also details specific biochemical analyses of the -60 T→C mutation. The results revealed FVII:C levels of less than 1% in infancy that remain severely decreased through puberty and into adulthood. In-vitro analyses utilizing hepatocyte nuclear factor 4α (HNF4α) co-transfection and a chromatin immunoprecipitation assay indicate that the -60 T→C mutation severely diminishes functional interaction between the FVII promoter and transcription factor HNF4α. The importance of interaction between the FVII gene and HNF4α in normal FVII expression provides an in-vivo illustration of the regulated expression of an autosomal gene encoding a coagulation protein. The constancy of FVII:C and peripubertal patient symptomatology reported here illustrates androgen-independent expression in contrast to expression with an analogous mutation in the promoter region of the gene encoding coagulation FIX.

Published
2011

3. First molecular characterization of a patient with combined factor V and factor VII deficiency

Author

James L. Zehnder, Ilana Traynis, Suchitra S. Acharya, Carol D. Jones, and Constance B. Gibb

Subjects
Pathology, medicine.medical_specialty, Polymorphism, Genetic, biology, Genotype, business.industry, Factor VII Deficiency, Factor V, Vascular biology, Hematology, medicine.disease, Thrombosis, Pedigree, Child, Preschool, Mutation, biology.protein, medicine, Coagulopathy, Humans, Female, Factor V Deficiency, Factor VII deficiency, business
Abstract

First molecular characterization of a patient with combined factor V and factor VII deficiency

Published
2006

4. Females with Severe or Moderate Hemophilia A or B: A U.S. Study

Author

Jacqueline M. Lefkowitz, Donna DiMichele, Peter A. Kouides, Constance B. Gibb, Quanhong Ni, and Linda M. Gerber

Subjects
medicine.medical_specialty, education.field_of_study, Pediatrics, business.industry, Immunology, Mucocutaneous zone, Population, Cell Biology, Hematology, Hepatitis C, medicine.disease, Biochemistry, Hemophilias, Quality of life, Cohort, Epidemiology, Etiology, Medicine, business, education
Abstract

According to the CDC’s 2006 National Hemophilia Data Set, females comprise 0.7% of the moderately and severely affected hemophilia A (HA) population and 1.3% of those similarly affected with hemophilia B (HB) in the US. Since no comprehensive data have been published on this patient group since 1978, we conducted this study to collect and analyze epidemiological, clinical, psychosocial, and molecular genetic data on females with severe (s) or moderate (mod) HA or HB. Potential subjects with factor VIII or IX activity levels

Published
2007
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