Search Results - "WENSTRUP, R. J"

Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset by Chan, M K, Krebs, M-O, Cox, D, Guest, P C, Yolken, R H, Rahmoune, H, Rothermundt, M, Steiner, J, Leweke, F M, van Beveren, N J M, Niebuhr, D W, Weber, N S, Cowan, D N, Suarez-Pinilla, P, Crespo-Facorro, B, Mam-Lam-Fook, C, Bourgin, J, Wenstrup, R J, Kaldate, R R, Cooper, J D, Bahn, S

“…Recent research efforts have progressively shifted towards preventative psychiatry and prognostic identification of individuals before disease onset. We…”
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A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes by Eggington, J.M., Bowles, K.R., Moyes, K., Manley, S., Esterling, L., Sizemore, S., Rosenthal, E., Theisen, A., Saam, J., Arnell, C., Pruss, D., Bennett, J., Burbidge, L.A., Roa, B., Wenstrup, R.J.

“…Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly…”
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Skeletal aspects of Gaucher disease: a review by WENSTRUP, R. J, ROCA-ESPIAU, M, WEINREB, N. J, BEMBI, B

“…In Gaucher disease, a genetic deficiency in the activity of the lysosomal enzyme beta-glucocerebrosidase (acid beta-glucosidase) causes monocytes and…”
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Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes by Rosenthal, E.T., Bowles, K.R., Pruss, D., van Kan, A., Vail, P.J., McElroy, H., Wenstrup, R.J.

“…Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on…”
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Mesenchymal stem cells used for rabbit tendon repair can form ectopic bone and express alkaline phosphatase activity in constructs by Harris, M.T, Butler, D.L, Boivin, G.P, Florer, J.B, Schantz, E.J, Wenstrup, R.J

“…Mesenchymal stem cells (MSCs) have been used to repair connective tissue defects in several animal models. Compared to “natural healing” controls (no added…”
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Response to Cragun et al by Kerr, I.D., Nix, P., Wenstrup, R.J.

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Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313) by Sharma, P., Barlow, W.E., Godwin, A.K., Pathak, H., Isakova, K., Williams, D., Timms, K.M., Hartman, A.R., Wenstrup, R.J., Linden, H.M., Tripathy, D., Hortobagyi, G.N., Hayes, D.F.

“…Homologous recombination deficiency (HRD)-causing alterations have been reported in triple-negative breast cancer (TNBC). We hypothesized that TNBCs with HRD…”
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Bone complications in children with Gaucher disease by BEMBI, B, CIANA, G, MENGEL, E, TERK, M. R, MARTINI, C, WENSTRUP, R. J

“…For paediatric patients with Gaucher disease, enzyme replacement therapy (ERT) has the potential to prevent the development of serious, irreversible skeletal…”
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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type by Malfait, Fransiska, Wenstrup, Richard J., De Paepe, Anne

“…Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing…”
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The Nf1 Tumor Suppressor Regulates Mouse Skin Wound Healing, Fibroblast Proliferation, and Collagen Deposited by Fibroblasts by Atit, Radhika P., Crowe, Maria J., Greenhalgh, David G., Wenstrup, Richard J., Ratner, Nancy

“…Neurofibromatosis type 1 patients develop peripheral nerve tumors (neurofibromas) composed mainly of Schwann cells and fibroblasts, in an abundant collagen…”
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Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta by SMICUN, Y, KILPATRICK, M. W, FLORER, J, TOUDJARSKA, I, WU, G, WENSTRUP, R. J, TSIPOURAS, P

“…Antisense hammerhead ribozymes have the capability to cleave complementary RNA in a sequence-dependent manner. In osteogenesis imperfecta, a genetic disorder…”
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Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta by S D Chipman, H O Sweet, D J McBride, Jr, M T Davisson, S C Marks, Jr, A R Shuldiner, R J Wenstrup, D W Rowe, J R Shapiro

“…Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue associated with fractures, osteopenia, and short stature. OI results from mutations…”
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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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Type V Collagen Controls the Initiation of Collagen Fibril Assembly by Wenstrup, Richard J., Florer, Jane B., Brunskill, Eric W., Bell, Sheila M., Chervoneva, Inna, Birk, David E.

“…Vertebrate collagen fibrils are heterotypically composed of a quantitatively major and minor fibril collagen. In non-cartilaginous tissues, type I collagen…”
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Distinct proliferative and differentiated stages of murine MC3T3‐E1 cells in culture: An in vitro model of osteoblast development by Quarles, L. Darryl, Yohay, Daniel A., Lever, Laura W., Caton, Rashmi, Wenstrup, Richard J.

“…We examine clonal murine calvarial MC3T3‐E1 cells to determine if they exhibit a developmental sequence similar to osteoblasts in bone tissue, namely,…”
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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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Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency by Wenstrup, R J, Murad, S, Pinnell, S R

“…We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical…”
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Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases by Tiller, George E., Cassidy, Suzanne B., Wensel, Christine, Wenstrup, Richard J.

“…We have identified five families in whom individuals affected with the Ehlers‐Danlos syndrome (EDS) types I, II or III had aortic root dilatation (ARD). All…”
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Gaucher disease: a prototype for molecular medicine by Grabowski, Gregory A., Saal, Howard M., Wenstrup, Richard J., Barton, Norman W.

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Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects by Zhang, K., Johnson, J. A., Biroschak, J., Villanueva, J., Lee, S. Molleran, Bleesing, J. J., Risma, K. A., Wenstrup, R. J., Filipovich, A. H.

“…Summary The heterozygous A91V mutation in PRF1 is identified more frequently in patients with familial haemophagocytic lymphohistiocytosis (FHLH) than in…”
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