Search Results - "Kim, CA"

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy by Gonzalez, Claudette Hajaj, Marques-Dias, Maria Joaquina, Kim, Chong Ae, Sugayama, Sofia MM, Da Paz, José Albino, Huson, Susan M, Holmes, Lewis B

“…Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However,…”
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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients by Varela, MC, Kok, F, Setian, N, Kim, CA, Koiffmann, CP

“…Prader–Willi syndrome (PWS) can result from a 15q11–q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the…”
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Advantages of expanded universal carrier screening: what is at stake? by van der Hout, Sanne, Holtkamp, Kim Ca, Henneman, Lidewij, de Wert, Guido, Dondorp, Wybo J

“…Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the…”
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Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy by Kim, C. A., Delépine, Marc, Boutet, Emilie, El Mourabit, Haquima, Le Lay, Soazig, Meier, Muriel, Nemani, Mona, Bridel, Etienne, Leite, Claudia C., Bertola, Debora R., Semple, Robert K., O’Rahilly, Stephen, Dugail, Isabelle, Capeau, Jacqueline, Lathrop, Mark, Magré, Jocelyne

“…Context: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue, resulting in severe…”
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Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape by Holtkamp, Kim C A, Vos, Evelien M, Rigter, Tessel, Lakeman, Phillis, Henneman, Lidewij, Cornel, Martina C

“…In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold…”
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SAM domains: uniform structure, diversity of function by Kim, Chongwoo A, Bowie, James U

“…Sterile alpha motif (SAM) domains are known to exhibit diverse protein–protein interaction modes. They can form multiple self-association architectures and…”
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Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity by Turunen, Mikko, Spaeth, Jason M., Keskitalo, Salla, Park, Min Ju, Kivioja, Teemu, Clark, Alison D., Mäkinen, Netta, Gao, Fangjian, Palin, Kimmo, Nurkkala, Helka, Vähärautio, Anna, Aavikko, Mervi, Kämpjärvi, Kati, Vahteristo, Pia, Kim, Chongwoo A., Aaltonen, Lauri A., Varjosalo, Markku, Taipale, Jussi, Boyer, Thomas G.

“…Somatic mutations in exon 2 of the RNA polymerase II transcriptional Mediator subunit MED12 occur at very high frequency (∼70%) in uterine leiomyomas. However,…”
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” by Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

“…Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some…”
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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause by Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.

“…Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently,…”
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A yield stress scaling function for electrorheological fluids by Choi, Hyoung J., Cho, Min S., Kim, Ji W., Kim, Chul A., Jhon, Myung S.

“…The yield stress dependence on electric field strength for electrorheological (ER) fluids is examined. A proposed scaling function incorporates both the…”
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Serum Leptin Level Is a Regulator of Bone Mass by Elefteriou, F., Takeda, S., Ebihara, K., Magre, J., Patano, N., Kim, C. Ae, Ogawa, Y., Liu, X., Ware, S. M., Craigen, W. J., Robert, J. J., Vinson, C., Nakao, K., Capeau, J., Karsenty, G., Chambon, Pierre

“…Leptin is a powerful inhibitor of bone formation in vivo. This antiosteogenic function involves leptin binding to its receptors on ventromedial hypothalamic…”
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Abstract P1-05-10: Targeting breast cancer metastasis through disruption of novel PELP1-G9a complex by Mann, M, Chakravarty, D, Kim, CA, Vadlamudi, RK

“…Abstract Although there are several therapies available for the treatment of breast cancer, many patients have tumor recurrences that ultimately metastasize…”
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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux by Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.

“…The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces…”
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The SAM domain of polyhomeotic forms a helical polymer by Bowie, James U, Kim, Chongwoo A, Gingery, Mari, Pilpa, Rosemarie M

“…The polycomb group (PcG) proteins are important in the maintenance of stable repression patterns during development. Several PcG members contain a…”
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Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis by Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T

“…The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks,…”
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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene by Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

“…Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the…”
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Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression by Kim, Chongwoo A., Phillips, Martin L., Kim, Woojae, Gingery, Mari, Tran, Hoang H., Robinson, Michael A., Faham, Salem, Bowie, James U.

“…TEL is a transcriptional repressor that is a frequent target of chromosomal translocations in a large number of hematalogical malignancies. These…”
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Structural Organization of a Sex-comb-on-midleg/Polyhomeotic Copolymer by Kim, Chongwoo A., Sawaya, Michael R., Cascio, Duilio, Kim, Woojae, Bowie, James U.

“…The polycomb group proteins are required for the stable maintenance of gene repression patterns established during development. They function as part of large…”
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Preparation and Electrorheological Characteristics of Poly(p-phenylene)-Based Suspensions by Sim, In S, Kim, Ji W, Choi, Hyoung J, Kim, Chul A, Jhon, Myung S

“…Poly(p-phenylene) (PPP) particles were synthesized from a bulk polymerization of benzene and then doped with FeCl3 in aqueous solution to control their…”
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