Search Results - "WILLING, M. C"

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations by Tran-Fadulu, V, Pannu, H, Kim, D H, Vick, 3rd, G W, Lonsford, C M, Lafont, A L, Boccalandro, C, Smart, S, Peterson, K L, Hain, J Zenger, Willing, M C, Coselli, J S, LeMaire, S A, Ahn, C, Byers, P H, Milewicz, D M

“…Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic…”
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Genome-wide Association Scan for Childhood Caries Implicates Novel Genes by Shaffer, J.R., Wang, X., Feingold, E., Lee, M., Begum, F., Weeks, D.E., Cuenco, K.T., Barmada, M.M., Wendell, S.K., Crosslin, D.R., Laurie, C.C., Doheny, K.F., Pugh, E.W., Zhang, Q., Feenstra, B., Geller, F., Boyd, H.A., Zhang, H., Melbye, M., Murray, J.C., Weyant, R.J., Crout, R., McNeil, D.W., Levy, S.M., Slayton, R.L., Willing, M.C., Broffitt, B., Vieira, A.R., Marazita, M.L.

“…Dental caries is the most common chronic disease in children and a major public health concern due to its increasing incidence, serious health and social…”
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Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries by Reis, Steven E., Crout, Richard, Weyant, R. J., Levy, Steven M., Vieira, Alexandre Rezende, Marazita, Mary L., Willing, M. C., Slayton, R. L., Maher, B. S., Vanyukov, M. M., Cooper, Margaret E., Feingold, Eleanor, Shaffer, John R., Lewis, D. D., McNeil, Daniel W.

“…Matrix metalloproteinases (MMPs), which degrade extracellular proteins as part of a variety of physiological processes, and their inhibitors have been…”
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Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains by WILLING, M. C, DESCHENES, S. P, SLAYTON, R. L, ROBERTS, E. J

“…Nonsense and frameshift mutations, which predict premature termination of translation, often cause a dramatic reduction in the amount of transcript from the…”
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Genetic and environmental factors associated with dental caries in children: the Iowa Fluoride Study by Wang, X, Willing, M C, Marazita, M L, Wendell, S, Warren, J J, Broffitt, B, Smith, B, Busch, T, Lidral, A C, Levy, S M

“…Dental caries remains the most common chronic childhood disease. Despite strong evidence of genetic components, there have been few studies of candidate genes…”
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Osteogenesis imperfecta type I : molecular heterogeneity for COL1A1 null alleles of type I collagen by WILLING, M. C, DESCHENES, S. P, SCOTT, D. A, BYERS, P. H, SLAYTON, R. L, PITTS, S. H, ARIKAT, H, ROBERTS, E. J

“…Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half…”
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Genetic Association of MPPED2 and ACTN2 with Dental Caries by Stanley, B.O.C., Feingold, E., Cooper, M., Vanyukov, M.M., Maher, B.S., Slayton, R.L., Willing, M.C., Reis, S.E., McNeil, D.W., Crout, R.J., Weyant, R.J., Levy, S.M., Vieira, A.R., Marazita, M.L., Shaffer, J.R.

“…The first genome-wide association study of dental caries focused on primary teeth in children aged 3 to 12 yr and nominated several novel genes: ACTN2,…”
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COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS by Wenstrup, Richard J., Florer, Jane B., Willing, Marcia C., Giunta, Cecilia, Steinmann, Beat, Young, Felix, Susic, Miki, Cole, William G.

“…We have identified haploinsufficiency of the COL5A1 gene that encodes the proα1(V) chain of type V collagen in the classical form of the Ehlers-Danlos syndrome…”
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Osteocalcin: Genetic and Physical Mapping of the Human Gene BGLAP and Its Potential Role in Postmenopausal Osteoporosis by Raymond, Michael H., Schutte, Brian C., Torner, James C., Burns, Trudy L., Willing, Marcia C.

“…Osteocalcin is an abundant, highly conserved bone-specific protein that is synthesized by osteoblasts. Temporally, osteocalcin appears in embryonic bone at the…”
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Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation by Walker, L.C., Overstreet, M.A., Willing, M.C., Marini, J.C., Cabral, W.A., Pals, G., Bristow, J., Atsawasuwan, P., Yamauchi, M., Yeowell, Heather N.

“…Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers–Danlos syndrome type VI (EDS VI; kyphoscoliosis type), have significantly…”
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Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen by WILLING, M. C, PRUCHNO, C. J, ATKINSON, M, BYERS, P. H

“…Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of…”
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25 by HASHAM, Sumera N, WILLING, Marcia C, GUO, Dong-Chuan, MUILENBURG, Ann, RUMIN HE, TRAN, Van T, SCHERER, Steven E, SHETE, Sanjay S, MILEWICZ, Dianna M

“…Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an…”
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Physical Activity and Bone Measures in Young Children: The Iowa Bone Development Study by Janz, Kathleen F, Burns, Trudy L, Torner, James C, Levy, Steven M, Paulos, Richard, Willing, Marcia C, Warren, John J

“…Physical activity has a beneficial effect on bone development in circumpubertal children, although its effect on younger children is uncertain. In this…”
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Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta by WENSTRUP, R. J, WILLING, M. C, STARMAN, B. J, BYERS, P. H

“…We reviewed clinical and biochemical findings from 132 probands with nonlethal forms of osteogenesis imperfecta (OI) whose fibroblasts were sent to the…”
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Everyday activity predicts Bone geometry in children: The Iowa Bone development study by JANZ, Kathleen F, BURNS, Trudy L, LEVY, Steven M, TORNER, James C, WILLING, Marcia C, BECK, Thomas J, GILMORE, Julie M, MARSHALL, Teresa A

“…Bone adapts to changing mechanical loads by altering the structure appropriately. These adaptations should be evident in the bone cross-sectional area (CSA)…”
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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 by Willing, M C, Cohn, D H, Byers, P H

“…Osteogenesis imperfecta (OI) is a heterogeneous disorder of type I collagen of which OI type I, an autosomal dominant condition, is the mildest and most common…”
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Determinants of Bone Mineral Density in Postmenopausal White Iowans by Willing, Marcia C., Torner, James C., Burns, Trudy L., Segar, Ellen T., Werner, Joanna R.

“…Background. Osteoporosis is a major health problem for older individuals. For women, development of osteoporosis is a function of the accretion of “peak” bone…”
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Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa bone development study by WILLING, Marcia C, TORNER, James C, BURNS, Trudy L, JANZ, Kathleen F, MARSHALL, Teresa, GILMORE, Julie, DESCHENES, Sachi P, WARREN, John J, LEVY, Steven M

“…We examined the association of candidate gene polymorphisms with bone mineral density (BMD) and bone mineral content (BMC) in a cohort of 428 healthy…”
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Mutations of the alpha 2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I by Michalickova, K, Susic, M, Willing, M C, Wenstrup, R J, Cole, W G

“…Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder that severely impairs the structure and function of the skin, joints, eyes and blood…”
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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 imperfecta by Willing, M C, Cohn, D H, Starman, B, Holbrook, K A, Greenberg, C R, Byers, P H

“…We characterized a de novo 4.5 kilobase pair deletion in the paternally derived alpha 2(I) collagen allele (COL1A2) from a patient with perinatal lethal…”
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