Search Results - "DISTECHE, C"

Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome by Bonora, G., Deng, X., Fang, H., Ramani, V., Qiu, R., Berletch, J. B., Filippova, G. N., Duan, Z., Shendure, J., Noble, W. S., Disteche, C. M.

“…The mammalian inactive X chromosome (Xi) condenses into a bipartite structure with two superdomains of frequent long-range contacts, separated by a hinge…”
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The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned by Saxena, Richa, Brown, Laura G, Hawkins, Trevor, Alagappan, Raaji K, Skaletsky, Helen, Reeve, Mary Pat, Reijo, Renee, Rozen, Steve, Dinulos, Mary Beth, Disteche, Christine M, Page, David C

“…It is widely believed that most or all Y-chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y-chromosomal…”
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Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance by Korenberg, J. R., X.-N. Chen, Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J. M., Hudgins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.

“…Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is…”
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies by Chance, P F, Alderson, M K, Leppig, K A, Lensch, M W, Matsunami, N, Smith, B, Swanson, P D, Odelberg, S J, Disteche, C M, Bird, T D

“…Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal demyelinating neuropathy…”
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Escape from X inactivation in human and mouse by Disteche, Christine M.

“…Genes that escape X inactivation have been recently found in human and in mouse. Although many of these genes have homologues on the Y chromosome that may…”
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The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome by Delbridge, Margaret L, Lingenfelter, Patricia A, Disteche, Christine M, Graves, Jennifer A. Marshall

“…The genes on the human Y chromosome have been suggested to fall into two classes with distinct evolutionary origins. Widely expressed, single-copy genes with X…”
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Escape from X inactivation by Disteche, C M, Filippova, G N, Tsuchiya, K D

“…Although the process of X inactivation in mammalian cells silences the majority of genes on the inactivated X chromosome, some genes escape this…”
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CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome by Allen, R. Cutler, Armitage, Richard J., Conley, Mary Ellen, Rosenblatt, Howard, Jenkins, Nancy A., Copeland, Neal G., Bedell, Mary A., Edelhoff, Susanne, Disteche, Christine M., Simoneaux, Denise K., Fanslow, William C., Belmont, John, Spriggs, Melanie K.

“…The ligand for CD40 (CD40L) is a membrane glycoprotein on activated T cells that induces B cell proliferation and immunoglobulin secretion. Abnormalities in…”
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Boundaries between Chromosomal Domains of X Inactivation and Escape Bind CTCF and Lack CpG Methylation during Early Development by Filippova, Galina N., Cheng, Mimi K., Moore, James M., Truong, Jean-Pierre, Hu, Ying J., Di Kim Nguyen, Tsuchiya, Karen D., Disteche, Christine M.

“…Escape from X inactivation results in expression of genes embedded within inactive chromatin, suggesting the existence of boundary elements between domains. We…”
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The Human Acid Ceramidase Gene (ASAH): Structure, Chromosomal Location, Mutation Analysis, and Expression by Li, Chi-Ming, Park, Jae-Ho, He, Xingxuan, Levy, Brynn, Chen, Fei, Arai, Koji, Adler, David A., Disteche, Christine M., Koch, Jürgen, Sandhoff, Konrad, Schuchman, Edward H.

“…Acid ceramidase (AC) is the lysosomal enzyme that degrades ceramide into sphingosine and fatty acid. A deficiency in human AC activity leads to the lysosomal…”
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Reconstructing hominid Y evolution : X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through line-line recombination by SCHWARTZ, A, CHAN, D. C, BROWN, L. G, ALAGAPPAN, R, PETTAY, D, DISTECHE, C, MCGILLIVRAY, B, DE LA CHAPELLE, A, PAGE, D. C

“…The human X and Y chromosomes share many blocks of similar DNA sequence. We conducted mapping and nucleotide sequencing studies of extensive, multi-megabase…”
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Down syndrome : molecular mapping of the congenital heart disease and duodenal stenosis by KORENBERG, J. R, BRADLEY, C, DISTECHE, C. M

“…Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and…”
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Escapees on the X Chromosome by Disteche, Christine M.

“…In many organisms, differentiation of the sex chromosome complement resulted in the coordinated regulation of genes on whole chromosomes to equalize gene…”
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The amphiregulin gene encodes a novel epidermal growth factor-related protein with tumor-inhibitory activity by PLOWMAN, G. D, GREEN, J. M, MCDONALD, V. L, NEUBAUER, M. G, DISTECHE, C. M, TODARO, G. J, SHOYAB, M

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOME OTHER THAN CHROMOSOMES 13, 18, 20, AND 21: KARYOTYPE/PHENOTYPE CORRELATIONS by HSU, LILLIAN Y. F., YU, MING-TSUNG, NEU, RICHARD L., VAN DYKE, DANIEL L., BENN, PETER A., BRADSHAW, CHRISTY L., SHAFFER, LISA G., HIGGINS, RODNEY R., KHODR, GABRIEL S., MORTON, CYNTHIA C., WANG, HUNGSHU, BROTHMAN, ARTHUR R., CHADWICK, DIANNE, DISTECHE, CHRISTINE M., JENKINS, LAUREN S., KALOUSEK, DAGMAR K., PANTZAR, TAPIO J., WYATT, PHILIP

“…In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally…”
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Ring X and other structural X chromosome abnormalities: X inactivation and phenotype by Leppig, K A, Disteche, C M

“…Patients who carry a structural abnormality of the X chromosome are a fascinating group who have provided opportunities to evaluate genotype/phenotype…”
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Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements by Souter, V. L., Glass, I. A., Chapman, D. B., Raff, M. L., Parisi, M. A., Opheim, K. E., Disteche, C. M.

“…We report two cases of multiple fetal anomalies detected by prenatal ultrasound and associated with subtle subtelomeric chromosomal rearrangements. The first…”
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Cloning and Primary Structure of a Human Islet Isoform of Glutamic Acid Decarboxylase from Chromosome 10 by Karlsen, Allan E., Hagopian, William A., Grubin, Catherine E., Dube, Syamalima, Disteche, Christine M., Adler, David A., Barmeier, Heike, Mathewes, Shannon, Grant, Francis J., Foster, Don, Lernmark, Ake

“…Glutamic acid decarboxylase (GAD; glutamate decarboxylase, L-glutamate 1-carboxy-lyase, EC 4.1.1.15), which catalyzes formation of γ-aminobutyric acid from…”
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Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty by REIJO, R, SELIGMAN, J, DINULOS, M. B, JAFFE, T, BROWN, L. G, DISTECHE, C. M, PAGE, D. C

“…Deletion of the Azoospermia Factor (AZF) region of the human Y chromosome results in spermatogenic failure. While the identity of the critical missing gene has…”
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Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males by Jobling, Mark A., Samara, Vassiliki, Pandya, Arpita, Fretwell, Neale, Bernasconi, Barbara, Mitchell, R. John, Gerelsaikhan, Tudevdagva, Dashnyam, Bumbein, Sajantila, Antti, Salo, Pia J., Nakahori, Yutaka, Disteche, Christine M., Thangaraj, Kumarasamy, Singh, Lalji, Crawford, Michael H., Tyler-Smith, Chris

“…Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide…”
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