Genetik Allgemein

Van Damme T, Syx D, Coucke P, Symoens S, De Paepe A, Malfait F. Genetics of the Ehlers–Danlos syndrome: more than collagen disorders. Expert Opinion on Orphan Drugs. 2015 Apr 3;3(4):379-92.

Vanakker O, Callewaert B, Malfait F, Coucke P. The genetics of soft connective tissue disorders. Annual review of genomics and human genetics. 2015 Aug 24;16:229-55.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F. Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21. 1 in an Extended Belgian Family. Disease markers. 2015 Oct 4;2015.

Zheng W, Rao S. Knowledge-based analysis of genetic associations of rheumatoid arthritis to inform studies searching for pleiotropic genes: a literature review and network analysis. Arthritis research & therapy. 2015 Dec 1;17(1):1-9.

Yang HC, Liang YJ, Chung CM, Chen JW, Pan WH. Genome-wide gene-based association study. InBMC proceedings 2009 Dec 15 (Vol. 3, No. 7, p. 1). BioMed Central.

Mackenroth L, Fischer‐Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A. 2016 Jan 1.

Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H. Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. BMC musculoskeletal disorders. 2016 Feb 16;17(1):1.

Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Human genetics. 2016 May 1;135(5):525-40.

Connizzo BK, Han L, Birk DE, Soslowsky LJ. Collagen V-heterozygous and-null supraspinatus tendons exhibit altered dynamic mechanical behaviour at multiple hierarchical scales. Interface focus. 2016 Feb 6;6(1):20150043.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in Medicine. 2016 Mar 24.

CHIARELLI, Nicola, et al. Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. PLoS One, 2016, 11. Jg., Nr. 8, S. e0161347.

LYONS, Jonathan J., et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics, 2016.

TNXB-Genetik 

Petersen JW, Douglas JY. Tenascin-X, collagen, and Ehlers–Danlos syndrome: Tenascin-X gene defects can protect against adverse cardiovascular events. Medical hypotheses. 2013 Sep 30;81(3):443-7.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. New England Journal of Medicine. 2001 Oct 18;345(16):1167-75.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2013 Jan 2;98(2):E379-87.

Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. The American Journal of Human Genetics. 2003 Jul 31;73(1):214-7.

Zweers MC, Dean WB, Van Kuppevelt TH, Bristow J, Schalkwijk J. Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutations. Clinical genetics. 2005 Apr 1;67(4):330-4.

Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P. Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscular Disorders. 2013 Aug 31;23(8):664-9.

Voermans NC, Jenniskens GJ, Hamel BC, Schalkwijk J, Guicheney P, Van Engelen BG. Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies. American Journal of Medical Genetics Part A. 2007 Sep 15;143(18):2215-9.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2013 Jan 2;98(2):E379-87.

Morissette R, Merke DP, McDonnell NB. Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. European journal of medical genetics. 2014 Feb 28;57(2):95-102.

Minamitani T, Ariga H, Matsumoto KI. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Experimental cell research. 2004 Jul 1;297(1):49-60.

Minamitani T, Ariga H, Matsumoto KI. Adhesive defect in extracellular matrix tenascin-X-null fibroblasts: a possible mechanism of tumor invasion. Biological and Pharmaceutical Bulletin. 2002;25(11):1472-5.

Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L. Tenascin-X: beyond the architectural function. Cell adhesion & migration. 2015 Jan 2;9(1-2):154-65.

Chiquet-Ehrismann R, Tucker RP. Tenascins and the importance of adhesion modulation. Cold Spring Harbor perspectives in biology. 2011 May 1;3(5):a004960.

Yuan Y, Nymoen DA, Stavnes HT, Rossnes AK, Bjørang O, Wu C, Nesland JM, Davidson B. Tenascin-X is a novel diagnostic marker of malignant mesothelioma. The American journal of surgical pathology. 2009 Nov;33(11):1673.

Chen W, Kim MS, Shanbhag S, Arai A, VanRyzin C, McDonnell NB, Merke DP. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. American Journal of Medical Genetics Part A. 2009 Dec 1;149(12):2803-8.

Zhuang S, Linhananta A, Li H. Phenotypic effects of Ehlers–Danlos syndrome‐associated mutation on the FnIII domain of tenascin‐X. Protein Science. 2010 Nov 1;19(11):2231-9.

Peeters AC, Kucharekova M, Timmermans J, Van Den Berkmortel FW, Boers GH, Novakova IR, Egging D, Heijer MD, Schalkwijk J. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

Fujie S, Maita H, Ariga H, Matsumoto KI. Tenascin-X induces cell detachment through p38 mitogen-activated protein kinase activation. Biological and Pharmaceutical Bulletin. 2009;32(10):1795-9.

Alcaraz LB, Exposito JY, Chuvin N, Pommier RM, Cluzel C, Martel S, Sentis S, Bartholin L, Lethias C, Valcourt U. Tenascin-X promotes epithelial-to-mesenchymal transition by activating latent TGF-β. The Journal of cell biology. 2014 May 12;205(3):409-28.

Kamatani Y, Matsuda K, Ohishi T, Ohtsubo S, Yamazaki K, Iida A, Hosono N, Kubo M, Yumura W, Nitta K, Katagiri T. Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. Journal of human genetics. 2008 Jan 1;53(1):64-73.

Ishitsuka T, Ikuta T, Ariga H, Matsumoto KI. Serum tenascin-X strongly binds to vascular endothelial growth factor. Biological and Pharmaceutical Bulletin. 2009;32(6):1004-11.

Lévy P, Ripoche H, Laurendeau I, Lazar V, Ortonne N, Parfait B, Leroy K, Wechsler J, Salmon I, Wolkenstein P, Dessen P. Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1. Clinical cancer research. 2007 Jan 15;13(2):398-407.

Jollymore A, Lethias C, Peng Q, Cao Y, Li H. Nanomechanical properties of tenascin-X revealed by single-molecule force spectroscopy. Journal of molecular biology. 2009 Jan 30;385(4):1277-86.

Veit G, Hansen U, Keene DR, Bruckner P, Chiquet-Ehrismann R, Chiquet M, Koch M. Collagen XII interacts with avian tenascin-X through its NC3 domain. Journal of Biological Chemistry. 2006 Sep 15;281(37):27461-70.

Voermans NC, Altenburg TM, Hamel BC, de Haan A, Van Engelen BG. Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients. Neuromuscular Disorders. 2007 Aug 31;17(8):597-602.

Minamitani T, Ariga H, Matsumoto KI. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Experimental cell research. 2004 Jul 1;297(1):49-60.

Zweers MC, Peeters AC, Graafsma S, Kranendonk S, van der Vliet JA, den Heijer M, Schalkwijk J. Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. Circulation. 2006 Apr 4;113(13):1702-7.

Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. Ehlers‐Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Human mutation. 2016 Jun 1.

DEMIRDAS, Serwet, et al. Recognizing the tenascin‐X deficient type of Ehlers‐Danlos syndrome: a cross‐sectional study in 17 patients. Clinical Genetics, 2016.

CHIQUET‐EHRISMANN, Ruth; CHIQUET, Matthias. Tenascins: regulation and putative functions during pathological stress. The Journal of pathology, 2003, 200. Jg., Nr. 4, S. 488-499.

OTTENHEIJM, Coen AC, et al. Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome. Journal of Applied Physiology, 2012, 112. Jg., Nr. 7, S. 1157-1165.

DAS, Amitava, et al. The Human Skeletal Muscle Transcriptome in Response to Oral Shilajit Supplementation. Journal of Medicinal Food, 2016, 19. Jg., Nr. 7, S. 701-709.

DEMIRDAS, Serwet, et al. Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients. Clinical Genetics, 2016.

FUKAMAUCHI, Fumihiko, et al. Abnormal behavior and neurotransmissions of tenascin gene knockout mouse. Biochemical and biophysical research communications, 1996, 221. Jg., Nr. 1, S. 151-156.

Pharmakogenetik

Bounmythavong MS, Weismann MM, Marienau MS. Implications of pharmacogenomics for anesthesia providers. AANA journal. 2010 Oct;78(5):393.