Relevant bibliographies by topics / 4q35

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Academic literature on the topic '4q35'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "4q35"

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Yamanaka, Gaku, Kanako Goto, Tadayuki Ishihara, et al. "FSHD-like patients without 4q35 deletion." Journal of the Neurological Sciences 219, no. 1-2 (2004): 89–93. http://dx.doi.org/10.1016/j.jns.2003.12.010.

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Cabianca, Daphne Selvaggia, and Davide Gabellini. "FSHD: copy number variations on the theme of muscular dystrophy." Journal of Cell Biology 191, no. 6 (2010): 1049–60. http://dx.doi.org/10.1083/jcb.201007028.

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In humans, copy number variations (CNVs) are a common source of phenotypic diversity and disease susceptibility. Facioscapulohumeral muscular dystrophy (FSHD) is an important genetic disease caused by CNVs. It is an autosomal-dominant myopathy caused by a reduction in the copy number of the D4Z4 macrosatellite repeat located at chromosome 4q35. Interestingly, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness. Indeed, recent find
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Pikó, Henriett, Mária Judit Molnár, Ágnes Herczegfalvi, Péter Mayer, and Veronika Karcagi. "Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy." Orvosi Hetilap 152, no. 39 (2011): 1576–85. http://dx.doi.org/10.1556/oh.2011.29179.

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Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat region on 4q35. In addition, epigenetic modifying factors play a role in the complex pathomechanism of the disease. Aims: Introduction of a new diagnostic panel in Hungary for the extended molecular analysis of the disease which also provides new insights into the pathomechanism. Methods: In total, DNA samples of 185 clinically diagnosed FSHD patients and 71 asymptomatic relatives were analyzed by EcoRI and BlnI restriction digestion and Southern blot technique with probe p13-E11. Furth
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Nguyen, Karine, Natacha Broucqsault, Charlene Chaix, et al. "Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy." Journal of Medical Genetics 56, no. 9 (2019): 590–601. http://dx.doi.org/10.1136/jmedgenet-2018-105949.

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BackgroundSubtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves shortening of an array of D4Z4 macrosatellite elements at the 4q35 locus. The disease also segregates with a specific A-type haplotype containing a degenerated polyadenylation signal distal to the last repeat followed by a repetitive array of β-satellite elements. This classification applies to most patients with FSHD. A subset of patients called FSHD2 es
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Cingoz, S., A. M. Bisgaard, I. Bache, et al. "4q35 deletion and 10p15 duplication associated with immunodeficiency." American Journal of Medical Genetics Part A 140A, no. 20 (2006): 2231–35. http://dx.doi.org/10.1002/ajmg.a.31431.

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Tam, Rose, Kelly P. Smith, and Jeanne B. Lawrence. "The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres." Journal of Cell Biology 167, no. 2 (2004): 269–79. http://dx.doi.org/10.1083/jcb.200403128.

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This paper investigates the nuclear localization of human telomeres and, specifically, the 4q35 subtelomere mutated in facioscapulohumeral dystrophy (FSHD). FSHD is a common muscular dystrophy that has been linked to contraction of D4Z4 tandem repeats, widely postulated to affect distant gene expression. Most human telomeres, such as 17q and 17p, avoid the nuclear periphery to reside within the internal, euchromatic compartment. In contrast, 4q35 localizes at the peripheral heterochromatin with 4p more internal, generating a reproducible chromosome orientation that we relate to gene expression
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Nguyen, Karine, Francesca Puppo, Stéphane Roche, et al. "Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy." Human Mutation 38, no. 10 (2017): 1432–41. http://dx.doi.org/10.1002/humu.23304.

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Cummings, Thomas J., Leslie G. Dodd, Christopher R. Eedes, and Gordon K. Klintworth. "Hereditary Benign Intraepithelial Dyskeratosis: An Evaluation of Diagnostic Cytology." Archives of Pathology & Laboratory Medicine 132, no. 8 (2008): 1325–28. http://dx.doi.org/10.5858/2008-132-1325-hbidae.

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Abstract Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition is predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina. Objective.—To determine whether HBID can be diagnosed using cytologic preparations of the conjunctiva, and whether the cytologic findings correlated with the genetic linkage involving a duplication in chromosome 4 (4q35). Design.—Cytologic preparations from conj
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Jiao, Xiaodong, Francis L. Munier, Fumino Iwata, et al. "Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35." American Journal of Human Genetics 67, no. 5 (2000): 1309–13. http://dx.doi.org/10.1016/s0002-9297(07)62960-7.

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Adams, Linda J., Philip B. Mitchell, Sharon L. Fielder, Amanda Rosso, Jennifer A. Donald, and Peter R. Schofield. "A Susceptibility Locus for Bipolar Affective Disorder on Chromosome 4q35." American Journal of Human Genetics 62, no. 5 (1998): 1084–91. http://dx.doi.org/10.1086/301826.

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Dissertations / Theses on the topic "4q35"

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Morere, Julia. "Intéractions chromatiniennes à longue distance au locus 4q35 dans la pathogenèse de la dystrophie facio-scapulo-humérale." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM5024.

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La dystrophie Facio-Scapulo-Humérale, ou FSHD, est une maladie d'hérédité autosomique dominante, caractérisée par un affaiblissement des muscles de la face, et progressant de façon asymétrique au reste du corps. Des analyses de liaison ont montré que 95% des cas sont associés à la délétion de D4Z4, macrosatellite polymorphe de 3,3Kb, répété en tandem dans la région subtélomérique du bras long du chromosome 4, mais aucun gène candidat n'a clairement été identifié, et l'existence de patients sans contraction (FSHD2), suggère des mécanismes complexes dans la survenue de la maladie. Parmi ceux-ci,
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Broucqsault, Natacha. "Régulation épigénétique du locus subtélomérique 4q35 et contribution du macrosatellite D4Z4 dans la dystrophie facio-scapulo-humérale." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM5099.

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Troisième dystrophie musculaire en terme d’incidence, la dystrophie facio-scapulo-humérale est une maladie qui reste encore énigmatique. Bien qu’elle a été montrée comme associée à la contraction d’un macrosatellite, D4Z4, au niveau du subtélomère 4q35 au début des années 1990, l’origine des modifications observées chez les patients est encore mal connue. C’est pourquoi nous nous sommes intéressés à différents aspects de la pathologie. Tout d’abord, nous avons étudié l’expression des gènes de la région 4q35 ainsi que de gènes impliqués dans la physiologie musculaire chez des fœtus et des adult
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Nguyen, Karine. "Exploration génomique du locus FSHD impliqué dans la dystrophie facio-scapulo-humérale par peignage moléculaire de l'ADN." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM5036.

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La dystrophie facio-scapulo-humérale (FSHD) est une maladie autosomique dominante fréquente et mystérieuse sur le plan clinique, moléculaire, et physiopathologique. Elle se caractérise par une atteinte sélective facio-scapulo-humérale débutant à l'adolescence et d'évolution descendante mais la variabilité clinique est extrême et les défauts de pénétrance existent. La FSHD1 définit le phénotype FSHD associé à la contraction du macrosatellite répété D4Z4 dans la région subtélomérique 4q35, à moins de 11 unités répétées. Plusieurs variants génomiques associés en cis et constituant des haplotypes
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Bolard, Caroline. "Influence des séquences subtélomériques sur la régulation des télomères : exemple du locus de la Dystrophie Facio-Scapulo-Humérale en 4q35 et implication en pathologie." Phd thesis, Ecole normale supérieure de lyon - ENS LYON, 2011. http://tel.archives-ouvertes.fr/tel-00689555.

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Les subtélomères forment la transition entre les séquences spécifiques des chromosomes et les répétitions télomériques terminales. Ils semblent capables d'influencer les fonctions télomériques mais les connaissances sur les mécanismes mis en jeu sont encore limitées. Les subtélomères sont pourtant associés à de nombreuses pathologies comme la myopathie facio-scapulo-humérale (FSHD), une dystrophie musculaire secondaire à la contraction de répétitions macrosatellites D4Z4 dans la région subtélomérique 4q35. Afin d'étudier les propriétés de la séquence subtélomérique D4Z4, nous avons créé des co
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Schluth-Bolard, Caroline. "Influence des séquences subtélomériques sur la régulation des télomères : exemple du locus de la Dystrophie Facio-Scapulo-Humérale en 4q35 et implication en pathologie." Thesis, Lyon, École normale supérieure, 2011. http://www.theses.fr/2011ENSL0623/document.

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Les subtélomères forment la transition entre les séquences spécifiques des chromosomes et les répétitions télomériques terminales. Ils semblent capables d’influencer les fonctions télomériques mais les connaissances sur les mécanismes mis en jeu sont encore limitées. Les subtélomères sont pourtant associés à de nombreuses pathologies comme la myopathie facio-scapulo-humérale (FSHD), une dystrophie musculaire secondaire à la contraction de répétitions macrosatellites D4Z4 dans la région subtélomérique 4q35. Afin d’étudier les propriétés de la séquence subtélomérique D4Z4, nous avons créé des co
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Traulsen, Kathryn E. A. "Towards a transcript map of 4q32--q34." Thesis, University of Ottawa (Canada), 2003. http://hdl.handle.net/10393/26406.

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With the completion of the sequencing of the human genome near, the next phase will be to identify and annotate all transcriptional units. We have utilized a procedure that directly selects cDNA from genomic DNA in order to isolate putative transcriptional units for identification of novel genes at the 4q34 locus. In this procedure, cDNA fragments were isolated following the hybridization of cDNA pools to 7 BAC clones spanning the 4q34 region. The 4q34 region is approximately 2.0 Mb and contains 7 known genes and 8 predicted genes. In addition, EST evidence annotated in the public databases su
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Herraiz, Martínez Adela. "Effects of ageing and genetic risk variants at 4q25 on the calcium homeostasis in cardiac myocytes." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/401751.

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Background Ageing is a risk factor that promotes common cardiovascular diseases such as atrial fibrillation (AF) or heart failure (HF), which in turn are associated with pathological changes in intracellular calcium homeostasis. However, the effects that ageing could have on the calcium homeostasis in human atrial cardiomyocytes are not well known. Furthermore, genetic risk variants at single nucleotide polymorphisms (SNPs) associated with a higher incidence of AF have been identified in the chromosomal region 4q25, close to the locus of the Pitx2 transcription factor that plays an importan
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Tzeng, Sheng-Tai, and 曾晟泰. "High-resolution Mapping of Allelic Loss at Chromosome 4q25-4q28.2 in Colorectal Carcinoma." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/99684493261076512123.

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Liu, Shu-Hsiang, and 柳舒祥. "Aberrantly genes expressed at chromosome 4q and 11q in hepatocellular carcinoma: special emphasis on annexin A10 at 4q33, ApoA-V at 11q23 and CANP at 11q12." Thesis, 2004. http://ndltd.ncl.edu.tw/handle/29971608496301689060.

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博士<br>國立臺灣大學<br>病理學研究所<br>92<br>Hepatocelluar carcinoma (HCC) is the most common fatal malignancy in Taiwan. In an attempt to identify potential genes related to the tumorigenesis and progression of HCC, we used mRNA differential display method to screen the genes aberrantly expressed in HCC. We identified frequent of downregulation of annexin A10 (ANXA10) at 4q33 and apolipoprotein A-V (apoA-V) at 11q23, and overexpression of cancer associated nucleoprotein (CANP), a novel gene of unknown function, located at 11q12.2. This dissertation is to elucidate the clinicopathological significance of t
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Books on the topic "4q35"

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Emery, Roger. Disorders of the scapula. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199550647.003.004012.

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♦ Sprengel’s deformity causes a high riding, fixed, hypoplastic scapula♦ Sprengel’s deformity may be associated with Klippel Fiel syndrome♦ Winging of the scapula can be caused by trapezius palsy or serratus anterior palsy♦ Trapezius palsy is usually due to damage to the spinal accessory nerve♦ Serratus palsy is usually caused by damage to the long thoracic nerve♦ Fascio-scapulo-humeral dystrophy presents with loss of scapula control from the late teens to the late twenties♦ FSHD is autosomal dominant and linked to alteration of the 4q35 gene.
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Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 39-Year-Old Man with Low Back Pain and Scapular Winging. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0023.

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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, following Duchenne muscular dystrophy and myotonic dystrophy. The clinical secerity is extremely variable, with symptom onset anywhere from infancy to middle adulthood. The cardinal clinical features of facioscapulohumeral muscular dystrophy include facial weakness and scapular winging. Other important examination findings including scalloping of the trapezius, “Popeye” forearms, horizontal axillary folds, and a positive Beevor’s sign. It can rarely present as a pattern of weakness mimicking limb-girdle
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Book chapters on the topic "4q35"

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"Dyskeratosis (DKC, Xq28; DKBI 4q35)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4989.

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"Apopain (caspase 3, human chromosome 4q35)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_1052.

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"4QDEUTERO-EZECHIEL (4Q385 2-3)." In La croyance des Esseniens en la vie future. Peeters Publishers, 1993. http://dx.doi.org/10.2307/j.ctv1q26x1m.20.

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"4Q460/4Q350 AND TAMPERING WITH QUMRAN TEXTS IN ANTIQUITY?" In Emanuel. BRILL, 2003. http://dx.doi.org/10.1163/9789004276215_010.

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"AN APOCRYPHON OF JEREMIAH FROM CAVE 4 (4Q385B = 4Q385 16)." In New Qumran Texts and Studies. BRILL, 1994. http://dx.doi.org/10.1163/9789004350175_007.

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"Gleanings from the Plates of Unidentified Fragments: Two PAM 43.674 Identifications (4Q365 and 4Q416)." In ‘Go Out and Study the Land’ (Judges 18:2). BRILL, 2012. http://dx.doi.org/10.1163/9789004214132_019.

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"A Textual Analysis of Pseudo-Ezekiel (4Q385 and 4Q386): Rewritten or Merely Copies of Each Other." In Scribal Practice, Text and Canon in the Dead Sea Scrolls. BRILL, 2019. http://dx.doi.org/10.1163/9789004410732_008.

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Arnar, David O., and Hilma Holm. "Mechanisms of atrial fibrillation: genetics." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0497.

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While atrial fibrillation (AF) is common and has serious consequences, a lot is yet unknown about the causative factors underlying this arrhythmia. The role of genetics in the development of AF has become more evident in the past decade. Family history is now a firmly established risk factor and many common and rare sequence variants linked to AF have been identified. Genome-wide association studies have identified common sequence variants that associate with AF, including variants on chromosomes 4q25, 16q22, and 1q22. Nevertheless, it has become apparent that despite these findings, a substantial fraction of heritability of most complex traits remained unaccounted for. This raises the possibility that development of AF is determined by the combination of common and rare susceptibility variants. Whole genome sequencing is the most comprehensive method to analyse individual genetic variation. A paradigm shift from microarray-based genotyping studies to whole exome and whole genome sequencing is ongoing. Whole genome sequencing studies have shown mutations in myosin genes may be associated with AF, implying that variants encoding sarcomere genes may be involved in the development of this arrhythmia. While some of the sequence variants discovered suggest novel mechanisms in the pathophysiology of this complex arrhythmia, much work is still needed to fully understand the mechanisms linking many of these loci to AF. Likewise, the current clinical applicability of this information is still unclear. However, further developments in this field are expected to add to our understanding of this complex arrhythmia and hopefully lead to new therapeutic possibilities.
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