Results 91 to 100 of about 936,781 (286)

The defect in the AT-like hamster cell mutants is complemented by mouse chromosome 9 but not by any of the human chromosomes [PDF]

, 1996
X-ray-sensitive Chinese hamster V79 cells mutants, V-C4, V-E5 and V-G8, show an abnormal response to X-ray-induced DNA damage. Like ataxia telangiectasia (AT) cells, they display increased cell killing, chromosomal instability and a diminished inhibition
Athwal, R.S. (Raghbir), Cuthbert, A.P. (Andrew), Demant, P. (Peter), Jaspers, N.G.J. (Nicolaas), Jongmans, W., Lohmann, P.H.M. (Paul), Natarajan, A.T., Newbold, R.F. (Robert), Oshimura, M. (Mitsuo), Shiloh, Y. (Yosef), Stanbridge, E.J. (Eric), Verhaegh, G. (Gerald), Zdzienicka, M.Z. (Malgorzata)   +12 more
core   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Comparative chromosome painting discloses homologous Segments in distantly related mammals [PDF]

, 1994
Comparative chromosome painting, termed ZOO-FISH, using DNA libraries from flow sorted human chromosomes 1,16,17 and X, and mouse chromosome 11 discloses the presence of syntenic groups in distantly related mammalian Orders ranging from primates (Homo
A Jauch, A Kallioniemi, A Lima-de-Faria, A Lima-de-Faria, Antonio Lima-de-Faria, B Dutrillaux, C Collins, C Lengauer, C Lengauer, C Lengauer, D Pinkel, D Pinkel, E Göttert, EP Evans, G Schriever-Schwemmer, GP Holmquist, GP Holmquist, H Neitzel, H Scherthan, H Scherthan, Harry Scherthan, Heinz-Ulrich Weier, HP Levy, J Hetzel, J Meyne, J Wienberg, J Wienberg, JA Adegoke, JAM Graves, JG Dauwerse, JW Breneman, K Miashita, Lutz Frönicke, M Klever, M Vooijs, M Yerle, MR Speicher, NE Morton, NG Copeland, P Lichter, R Stanyon, S du Manoir, S Liming, S Luke, S Ohno, SF Nelson, SJ O'Brien, SJ O'Brien, SJ O'Brien, T Ried, T Ried, Thomas Cremer, U Amason, U Arnason, Ulfur Arnason, WA Bickmore, XY Guan   +56 more
core   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Novel method to rescue a lethal phenotype through integration of target gene onto the X-chromosome. [PDF]

, 2016
The loss-of-function mutations of serine protease inhibitor, Kazal type 1 (SPINK1) gene are associated with human chronic pancreatitis, but the underlying mechanisms remain unknown. We previously reported that mice lacking Spink3, the murine homologue of
Araki, Kimi, Baba, Hideo, Gukovskaya, Anna S, Gukovsky, Ilya, Hashimoto, Daisuke, Komazawa-Sakon, Sachiko, Lee, Grace E, Murai, Shin, Nakano, Hiroyasu, Nishina, Takashi, Notohara, Kenji, Ohmuraya, Masaki, Sakata, Kazuya, Suzuki, Chigure, Uchiyama, Yasuo, Yamamura, Ken-Ichi   +15 more
core   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Tissue-specific features of the X chromosome and nucleolus spatial dynamics in a malaria mosquito, Anopheles atroparvus.

PLoS ONE, 2017
Spatial organization of chromosome territories is important for maintenance of genomic stability and regulation of gene expression. Recent studies have shown tissue-specific features of chromosome attachments to the nuclear envelope in various organisms ...
Semen M Bondarenko, Gleb N Artemov, Igor V Sharakhov, Vladimir N Stegniy   +3 more
doaj   +1 more source

YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p [PDF]

, 1996
powerful tool to advance the identi®cation of gene com-Despite rapid progress in the physical characteriza- plexes and of disease genes. In this respect, the analysis tion of murine and human genomes, little molecular in- of human chromosomes 16 and 19 ...
Baer, K, Jockusch, H, Korthaus, D, Lengeling, A, Ronsiek, M, Wedemeyer, N, Wuttke, M   +6 more
core   +2 more sources

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

, 2015
BACKGROUND: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome.
A Franzese, A Grossi, Anikó Somogyi, Antónia Völgyi, Artúr Beke, C Hernando, CC Wong, CH Gravholt, CM Powell, D Chang, D Wechsler, Dezső David, EJ Verver, Eszter Kiss, F Rousseau, F Schmidt, FS Grass, G Horváth, G Koumbaris, GS Letteire, György Fekete, H Pamjav, Henriett Pikó, Horolma Pamjav, I Bianchi, Irén Haltrich, J Auger, KT Jørgensen, ME Ochalski, MJ Schoemaker, MK Kim, N Morimoto, OA Shchelochkov, P Invernizzi, RT Hamza, T Eggermann, T Terano, Veronika Karcagi, VK Bakalov, VK Bakalov, W Gawron, Zoltán Garamvölgyi   +41 more
core   +2 more sources