Search Results - "Jabs, E Wang"

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome by Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

“…Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid…”
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A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome by Cai, J, Shoo, BA, Sorauf, T, Wang Jabs, E

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Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24 by Malo, M S, Blanchard, B J, Andresen, J M, Srivastava, K, Chen, X N, Li, X, Jabs, E W, Korenberg, J R, Ingram, V M

“…We have identified four putative human sodium channel gene sequences, 55 bp each, using the polymerase chain reaction (PCR) on total human placental DNA with…”
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A NHE3-related pseudogene is on human Chromosome 10; the functional gene maps to 5pl5.3 by Kokke, F T, Elsawy, T, Bengtsson, U, Wasmuth, J J, Wang Jabs, E, Tse, C M, Donowitz, M, Brant, S R

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Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2 by SUTTER, T. R, YONG MING TANG, HAYES, C. L, YU-YUAN P. WO, ETHYLIN WANG JABS, XIANG LI, HONG YIN, CODY, C. W, GREENLEE, W. F

“…Previously, levels of a novel human mRNA, detected by a recombinant cDNA designated clone 1, were shown to be increased 50-fold in response to treatment of a…”
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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening by JUANLIANG CAI, GOODMAN, Barbara K, DAENTL, Donna L, JABS, Ethylin Wang, PATEL, Ankita S, MULLIKEN, John B, VAN MALDERGEM, Lionel, HOGANSON, George E, PAZNEKAS, William A, BEN-NERIAH, Ziva, SHEFFER, Ruth, CUNNINGHAM, Michael L

“…The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the…”
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Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates by Jabs, Ethylin Wang

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Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome by Li, Xiang, Park, Woo-Jin, Pyeritz, Reed E, Jabs, Ethylin Wang

“…Fibroblast growth factor receptor 2 (FGFR2) is a single membrane spanning tyrosine kinase with alternatively spliced variants. Mutations in FGFR2 have been…”
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Human SLUG gene organization, expression, and chromosome map location on 8q by COHEN, M. E, MINGFEI YIN, PAZNEKAS, W. A, SCHERTZER, M, WOOD, S, WANG JABS, E

“…SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in…”
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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome by Przylepa, Kelly A, Paznekas, William, Zhang, Minghuang, Golabi, Mahin, Bias, Wilma, Bamshad, Michael J, Carey, John C, Hall, Bryan D, Stevenson, Roger, Orlow, Seth J, Cohen Jr, M. Michael, Jabs, Ethylin Wang

“…Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis…”
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Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease by Craig, R W, Jabs, E W, Zhou, P, Kozopas, K M, Hawkins, A L, Rochelle, J M, Seldin, M F, Griffin, C A

“…The MCL1 gene, recently identified in a myeloid leukemia cell line, has sequence similarity to BCL2, the gene at the t(14;18) translocation in follicular…”
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Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A by UMBRICHT, C. B, ERDILE, L. F, WANG JABS, E, KELLY, T. J

“…Replication protein A (RPA) is a three-subunit protein that plays a central role in eukaryotic DNA replication, recombination, and repair. We have previously…”
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Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3 by Jabs, E W, Li, X, Coss, C A, Taylor, E W, Meyers, D A, Weber, J L

“…Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families…”
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Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22 by Huebner, K, Cannizzaro, L A, Jabs, E W, Kivirikko, S, Manzone, H, Pihlajaniemi, T, Myers, J C

“…The collagens constitute a large family of extracellular matrix components primarily responsible for maintaining the structure and biological integrity of…”
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Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences by WANG JABS, E, PERSICO, M. G

“…The alphoid DNA family is composed of tandemly repeated sequences whose organization is chromosome specific. Under stringent conditions of hybridization,…”
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FGFR2 exon IIIa and III c mutations in Crouzon, Jackson-Weiss, and pfeiffer syndromes : Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing by MEYERS, G. A, DAY, D, SCOTT, A. F, WANG JABS, E, GOLDBERG, R, DAENTL, D. L, PRZYLEPA, K. A, ABRAMS, L. J, GRAHAM, J. M, FEINGOLD, M, MOESCHLER, J. B, RAWNSLEY, E

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Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26 by Li, X, Lewanda, A F, Eluma, F, Jerald, H, Choi, H, Alozie, I, Proukakis, C, Talbot, Jr, C C, Vander Kolk, C, Bird, L M

“…Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia…”
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A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33 by Li, X, Wise, C A, Le Paslier, D, Hawkins, A L, Griffin, C A, Pittler, S J, Lovett, M, Jabs, E W

“…The human chromosome 5q31--q33 region contains an interesting cluster of growth factor and receptor genes. In addition, several genetic disease loci have been…”
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A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3 by Kokke, F T, Elsawy, T, Bengtsson, U, Wasmuth, J J, Jabs, E W, Tse, C M, Donowitz, M, Brant, S R

“…Four mammalian Na super(+)/H super(+) exchanger isoforms have been cloned: NHE1, NHE2, NHE3, and NHE4. Two of these, NHE1 and NHE3, have been cloned in the…”
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Chromosomal localization of genes required for the terminal steps of oxidative metabolism : α and γ subunits of ATP synthase and the phosphate carrier by WANG JABS, E, THOMAS, P. J, BERNSTEIN, M, COSS, C, FERREIRA, G. C, PEDERSEN, P. L

“…The terminal steps of oxidative phosphorylation include transport of phosphate and ADP into the mitochondrial matrix, synthesis of ATP in the matrix, and…”
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