Professor of Pediatrics
Medical Genetics
Dr. Marcia C. Willing, MD
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Marcia C. Willing works in the field of Medical Genetics. She studied medicine at Virginia Commonwealth University School of Medicine. Dr. Marcia C. Willing is also published. She has 59 publications published. The lastest publication: "Regulation of human globin gene expression in mouse erythroleukemia x human fibroblast hybrid cells.'
Publications
- Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
- MAT2A mutations predispose individuals to thoracic aortic aneurysms.
- Effects of enamel matrix genes on dental caries are moderated by fluoride exposures.
- Genetic Association of MPPED2 and ACTN2 with Dental Caries.
- 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster.
- The microcephaly-capillary malformation syndrome.
- Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
- A hip analysis protocol for pediatric bone densitometry: the Iowa Bone Development Study.
- Early physical activity provides sustained bone health benefits later in childhood.
- Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
- Physical activity augments bone mineral accrual in young children: The Iowa Bone Development study.
- Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
- Percentile distributions of bone measurements in Iowa children: the Iowa Bone Development Study.
- Everyday activity predicts bone geometry in children: the iowa bone development study.
- Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.
- Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
- Fatness, physical activity, and television viewing in children during the adiposity rebound period: the Iowa Bone Development Study.
- Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
- Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
- Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybrids.
- Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types o...
- Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion o...
- Physical activity and bone measures in young children: the Iowa bone development study.
- COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
- Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.
- Osteocalcin: genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis.
- Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
- Determinants of bone mineral density in postmenopausal white Iowans.
- A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos synd...
- Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.
- Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
- Molecular heterogeneity in osteogenesis imperfecta type I.
- Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
- Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imper...
- General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta.
- Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.
- Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
- Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
- Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
- Osteogenesis imperfecta: translation of mutation to phenotype.
- Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
- Genome-wide association scan for childhood caries implicates novel genes.
- Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
- Sustained effect of early physical activity on body fat mass in older children.
- Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
- Vitamin D receptor genotype and risk of osteoporotic hip fracture in elderly women of Utah: an effect modified by parity.
- Subjective and objective measures of physical activity in relationship to bone mineral content during late childhood: the Iowa Bone Development Study.
- Genetic markers, bone mineral density, and serum osteocalcin levels.
- Regulation of human globin gene expression in mouse erythroleukemia x human fibroblast hybrid cells.
- Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections.
- Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction.
- Maintenance of hemoglobin inducibility in somatic cell hybrids of tetraploid (2S) mouse erythroleukemia cells with mouse or human fibroblasts.
- Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.
- Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations.
- Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
- Associations of fluoride intake with children's bone measures at age 11.
- TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Schools
Virginia Commonwealth University Medical College Of Virginia School Of Medicine
Childrens Hospital Med Center
University Wa Med Center
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Cincinnati Children's Hospital Medical Center -
Virginia Commonwealth University School of Medicine
Hospital
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St. Louis Children's Hospital -
Barnes-Jewish Hospital
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