X chromosome dosage and the genetic impact across human tissues
Open accessAbstract
BACKGROUND: Sex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood samples have suggested the presence of ripple effects, caused by altered X chromosome number, affecting the methylome and transcriptome. Whether these alterations can be connected to disease-specific tissues, and thereby having clinical implication for the phenotype, remains to be elucidated. METHODS: We performed a comprehensive analysis of X chromosome number on the transcriptome and methylome in blood, fat, and muscle tissue from individuals with 45,X, 46,XX, 46,XY, and 47,XXY. RESULTS: X chromosome number affected the transcriptome and methylome globally across all chromosomes in a tissue-specific manner. Furthermore, 45,X and 47,XXY demonstrated a divergent pattern of gene expression and methylation, with overall gene downregulation and hypomethylation in 45,X and gene upregulation and hypermethylation in 47,XXY. In fat and muscle, a pronounced effect of sex was observed. We identified X chromosomal genes with an expression pattern different from what would be expected based on the number of X and Y chromosomes. Our data also indicate a regulatory function of Y chromosomal genes on X chromosomal genes. Fourteen X chromosomal genes were downregulated in 45,X and upregulated in 47,XXY, respectively, in all three tissues (AKAP17A, CD99, DHRSX, EIF2S3, GTPBP6, JPX, KDM6A, PP2R3B, PUDP, SLC25A6, TSIX, XIST, ZBED1, ZFX). These genes may be central in the epigenetic and genomic regulation of sex chromosome aneuploidies. CONCLUSION: We highlight a tissue-specific and complex effect of X chromosome number on the transcriptome and methylome, elucidating both shared and non-shared gene-regulatory mechanism between SCAs.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
There is evidence of a unique and tissue-specific genome-wide methylation and transcription landscape in TS extending to both the X chromosome and the autosomes.
“There is evidence of a unique and tissue-specific genome-wide methylation and transcription landscape in TS extending to both the X chromosome and the autosomes.103-109”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [103]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106 · see citing works
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206 · see citing works
limma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458 · see citing works
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252 · see citing works
ggplot2: Elegant Graphics for Data Analysis
Wickham, H. (2009) · doi:10.1007/978-0-387-98141-3 · Cited by 14,447 · see citing works
Salmon provides fast and bias-aware quantification of transcript expression
Patro, R., Duggal, G., Love, M. I., Irizarry, R. A., & Kingsford, C. (2017) · Nature Methods · doi:10.1038/nmeth.4197 · Cited by 12,700 · see citing works
Jaenisch, R., & Bird, A. (2003) · Nature Genetics · doi:10.1038/ng1089 · Cited by 6,325 · see citing works
Chen, X., Xiu, M., Xing, J., Yu, S., Min, D., & Guo, F. (2017) · Cellular Physiology and Biochemistry · doi:10.1159/000479439 · Cited by 5,759 · see citing works
The Gene Ontology resource: enriching a GOld mine
The Gene Ontology Consortium, Carbon, S., Douglass, E., Good, B. M., Unni, D. R., Harris, N. L., Mungall, C. J., Basu, S., Chisholm, R. L., Dodson, R. J., et al. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkaa1113 · Cited by 3,555 · see citing works
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097 · see citing works
Landscape of X chromosome inactivation across human tissues
GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature · doi:10.1038/nature24265 · Cited by 1,138 · see citing works
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
Self-citationDe novo identification of differentially methylated regions in the human genome
Peters, T. J., Buckley, M. J., Statham, A. L., Pidsley, R., Samaras, K., Lord, R. V., Clark, S. J., & Molloy, P. L. (2015) · Epigenetics & Chromatin · doi:10.1186/1756-8935-8-6 · Cited by 956 · see citing works
Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-54 · Cited by 943 · see citing works
Apelin, a Newly Identified Adipokine Up-Regulated by Insulin and Obesity
Boucher, J., Masri, B., Daviaud, D., Gesta, S., Guigné, C., Mazzucotelli, A., Castan-Laurell, I., Tack, I., Knibiehler, B., Carpéné, C., et al. (2005) · Endocrinology · doi:10.1210/en.2004-1427 · Cited by 910 · see citing works
Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi
Fortin, J.-P., Triche, T. J., & Hansen, K. D. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw691 · Cited by 867 · see citing works
Functional normalization of 450k methylation array data improves replication in large cancer studies
Fortin, J.-P., Labbe, A., Lemire, M., Zanke, B. W., Hudson, T. J., Fertig, E. J., Greenwood, C. M. T., & Hansen, K. D. (2014) · Genome biology · doi:10.1186/s13059-014-0503-2 · Cited by 864 · see citing works
A histone H3 lysine 27 demethylase regulates animal posterior development
Lan, F., Bayliss, P. E., Rinn, J. L., Whetstine, J. R., Wang, J. K., Chen, S., Iwase, S., Alpatov, R., Issaeva, I., Canaani, E., et al. (2007) · Nature · doi:10.1038/nature06192 · Cited by 782 · see citing works
Gene Body-Specific Methylation on the Active X Chromosome
Hellman, A., & Chess, A. J. (2007) · Science · doi:10.1126/science.1136352 · Cited by 732 · see citing works
On the presence and role of human gene-body DNA methylation
Jjingo, D., Conley, A. B., Yi, S. V., Lunyak, V. V., & Jordan, I. K. (2012) · Oncotarget · doi:10.18632/oncotarget.497 · Cited by 501 · see citing works
Burashnikov, E., Pfeiffer, R., Barajas-Martinez, H., Delpón, E., Hu, D., Desai, M., Borggrefe, M., Haïssaguerre, M., Kanter, R., Pollevick, G., et al. (2010) · Heart Rhythm · doi:10.1016/j.hrthm.2010.08.026 · Cited by 438 · see citing works
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
Clement-Jones, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.5.695 · Cited by 421 · see citing works
Rakyan, V. K., Down, T. A., Thorne, N., Flicek, P., Kulesha, E., Gräf, S., Tomazou, E. M., Bäckdahl, L., Johnson, N., Herberth, M., et al. (2008) · Genome Research · doi:10.1101/gr.077479.108 · Cited by 379 · see citing works
Energy-sensing and signaling by AMP-activated protein kinase in skeletal muscle
Winder, W. W. (2001) · Journal of Applied Physiology · doi:10.1152/jappl.2001.91.3.1017 · Cited by 375 · cited 1× · see citing works
“In response to reduced intracellular ATP levels, AMPK activates energy-producing pathways and inhibits biosynthesis of protein, carbohydrate, and lipids [72].”
BackgroundMortality in women with Turner syndrome in Great Britain: a national cohort study
Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1049 · Cited by 360 · see citing works
Tximeta: Reference sequence checksums for provenance identification in RNA-seq
Love, M. I., Soneson, C., Hickey, P. F., Johnson, L. K., Pierce‐Ward, N. T., Shepherd, L. A., Morgan, M. T., & Patro, R. (2020) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1007664 · Cited by 360 · see citing works
The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming
Mansour, A. A., Gafni, O., Weinberger, L., Zviran, A., Ayyash, M., Rais, Y., Krupalnik, V., Zerbib, M., Amann‐Zalcenstein, D., Maza, I., et al. (2012) · Nature · doi:10.1038/nature11272 · Cited by 344 · see citing works
Thrombopoietin, the Mp1 ligand, is essential for full megakaryocyte development.
Kaushansky, K., Broudy, V. C., Lin, N., Jorgensen, M. J., McCarty, J. M., Fox, N., Zucker-Franklin, D., & Lofton–Day, C. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.8.3234 · Cited by 313 · see citing works
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Piton, A., Gauthier, J., Hamdan, F. F., Lafrenière, R. G., Yang, Y., Henrion, É., Laurent, S. B., Noreau, A., Thibodeau, P., Karemera, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.54 · Cited by 312 · see citing works
Derivation of consensus inactivation status for X-linked genes from genome-wide studies
Balaton, B. P., Cotton, A. M., & Brown, C. J. (2015) · Biology of Sex Differences · doi:10.1186/s13293-015-0053-7 · Cited by 248 · see citing works
Ottesen, A. M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C. H., Bojesen, A., Sørensen, K., Jørgensen, N., Rajpert‐De Meyts, E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33334 · Cited by 219 · see citing works
Self-citationCardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1059 · Cited by 217 · see citing works
Self-citationZitzmann, M., Aksglæde, L., Corona, G., Isidori, A. M., Juul, A., T'Sjoen, G. G., Kliesch, S., D’Hauwers, K., Toppari, J., Słowikowska‐Hilczer, J., et al. (2020) · Andrology · doi:10.1111/andr.12909 · Cited by 208 · see citing works
Steroid sulfotransferases and steroid sulfate sulfatases: characteristics and biological roles
Hobkirk, R. (1985) · Canadian Journal of Biochemistry and Cell Biology · doi:10.1139/o85-141 · Cited by 202 · see citing works
Sex-chromosome dosage effects on gene expression in humans
Raznahan, A., Parikshak, N. N., Chandran, V., Blumenthal, J. D., Clasen, L. S., Alexander-Bloch, A. F., Zinn, A. R., Wangsa, D., Wise, J., Murphy, D. G. M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1802889115 · Cited by 179 · see citing works
Autoimmune diseases in women with Turner's Syndrome
Jørgensen, K. T., Rostgaard, K., Bache, I., Biggar, R. J., Nielsen, N. M., Tommerup, N., & Frisch, M. (2010) · Arthritis & Rheumatism · doi:10.1002/art.27270 · Cited by 176 · see citing works
Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Cotton, A. M., Lam, L. L. C., Affleck, J. G., Wilson, I. M., Peñaherrera, M. S., McFadden, D. E., Kobor, M. S., Lam, W. L., Robinson, W. P., & Brown, C. J. (2011) · Human Genetics · doi:10.1007/s00439-011-1007-8 · Cited by 150 · see citing works
Widespread DNA hypomethylation and differential gene expression in Turner syndrome
Trolle, C., Nielsen, M. M., Skakkebæk, A., Lamy, P., Vang, S., Hedegaard, J., Nordentoft, I., Ørntoft, T. F., Pedersen, J. S., & Gravholt, C. H. (2016) · Scientific Reports · doi:10.1038/srep34220 · Cited by 149 · see citing works
Gravholt, C. H., Hjerrild, B., Mosekilde, L., Hansen, T. K., Rasmussen, L. M., Frystyk, J., Flyvbjerg, A., & Christiansen, J. S. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02267 · Cited by 112 · see citing works
Self-citationDNA hypermethylation and differential gene expression associated with Klinefelter syndrome
Skakkebaek, A. H., Nielsen, M. M., Trolle, C., Vang, S., Hornshøj, H., Hedegaard, J., Wallentin, M., Bojesen, A., Hertz, J. M., Fedder, J., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-31780-0 · Cited by 112 · see citing works
Self-citationNew mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
Cox, T. C. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2553 · Cited by 111 · see citing works
Morbidity and mortality in Klinefelter syndrome (47,XXY)
Bojesen, A., & Gravholt, C. H. (2011) · Acta Paediatrica · doi:10.1111/j.1651-2227.2011.02274.x · Cited by 109 · see citing works
Self-citationKlinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition
Bojesen, A., Host, C., & Gravholt, C. H. (2010) · Molecular Human Reproduction · doi:10.1093/molehr/gaq016 · Cited by 105 · see citing works
Self-citationZhang, X., Hong, D., Ma, S., Ward, T., Ho, M., Pattni, R., Duren, Z., Stankov, A., Bade Shrestha, S., Hallmayer, J., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910003117 · Cited by 101 · see citing works
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Vergult, S., Dheedene, A., Meurs, A., Faes, F., Isidor, B., Janssens, S., Gautier, A., Caignec, C. L., & Menten, B. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.141 · Cited by 88 · see citing works
Calcium channelopathies and intellectual disability: a systematic review
Kessi, M., Chen, B., Peng, J., Yan, F., Yang, L., & Yin, F. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01850-0 · Cited by 82 · see citing works
Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., Herns, S., Nöthen, M. M., Fröhlich, H., Oldenburg, J., et al. (2015) · Clinical Epigenetics · doi:10.1186/s13148-015-0112-2 · Cited by 81 · see citing works
Skakkebaek, A. H., Gravholt, C. H., Rasmussen, P. M., Bojesen, A., Jensen, J. S., Fedder, J., Laurberg, P., Hertz, J. M., Østergaard, J. R., Pedersen, A. D., et al. (2013) · NeuroImage Clinical · doi:10.1016/j.nicl.2013.10.013 · Cited by 79 · see citing works
Self-citationLindgren, A. M., Hoyos, T., Talkowski, M. E., Hanscom, C., Blumenthal, I., Chiang, C., Ernst, C., Pereira, S., Ordulu, Z., Clericuzio, C. L., et al. (2013) · Human Genetics · doi:10.1007/s00439-013-1263-x · Cited by 74 · see citing works
High Risk of Venous Thromboembolism in Klinefelter Syndrome
Zöller, B., Ji, J., Sundquist, J., & Sundquist, K. (2016) · Journal of the American Heart Association · doi:10.1161/jaha.116.003567 · Cited by 67 · see citing works
Sex hormone replacement therapy in Turner syndrome—impact on morbidity and mortality
Viuff, M. H., Berglund, A., Juul, S., Andersen, N. H., Stochholm, K., & Gravholt, C. H. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz039 · Cited by 62 · see citing works
Self-citationLanden, S., Jacques, M., Hiam, D., Alvarez‐Romero, J., Harvey, N. R., Haupt, L. M., Griffiths, L. R., Ashton, K. J., Lamon, S., Voisin, S. A. C., et al. (2021) · Clinical Epigenetics · doi:10.1186/s13148-021-01188-1 · Cited by 57 · see citing works
SHOXat a glance: from gene to protein
Marchini, A., Rappold, G., & Schneider, K. (2007) · Archives of Physiology and Biochemistry · doi:10.1080/13813450701531201 · Cited by 56 · see citing works
Bonis, M. L. D., Cerase, A., Matarazzo, M. R., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl027 · Cited by 51 · see citing works
Coronary artery anomalies in Turner syndrome
Viuff, M. H., Trolle, C., Wen, J., Jensen, J. M., Nørgaard, B. L., Gutmark, E. J., Gutmark-Little, I., Mortensen, K. H., Gravholt, C. H., & Andersen, N. H. (2016) · Journal of cardiovascular computed tomography · doi:10.1016/j.jcct.2016.08.004 · Cited by 42 · see citing works
Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations
Trolle, C., Mortensen, K. H., Pedersen, L. N., Berglund, A., Jensen, H. K., Andersen, N. H., & Gravholt, C. H. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069614 · Cited by 39 · see citing works
Self-citationContribution of genetic and epigenetic changes to escape from X-chromosome inactivation
Balaton, B. P., & Brown, C. J. (2021) · Epigenetics & Chromatin · doi:10.1186/s13072-021-00404-9 · Cited by 37 · see citing works
Skakkebaek, A. H., Moore, P. J., Pedersen, A. D., Bojesen, A., Kristensen, M. K., Fedder, J., Laurberg, P., Hertz, J. M., Østergaard, J. R., Wallentin, M., et al. (2017) · Brain and Behavior · doi:10.1002/brb3.645 · Cited by 35 · see citing works
Self-citationWen, J., Trolle, C., Viuff, M. H., Ringgaard, S., Laugesen, E., Gutmark, E. J., Subramaniam, D. R., Backeljauw, P., Gutmark-Little, I., Andersen, N. H., et al. (2018) · Journal of Cardiovascular Magnetic Resonance · doi:10.1186/s12968-018-0497-0 · Cited by 35 · see citing works
Self-citationChang, S., Biltoft, D., Skakkebaek, A. H., Fedder, J., Bojesen, A., Bor, M. V., Gravholt, C. H., & Münster, A. B. (2019) · Thrombosis Research · doi:10.1016/j.thromres.2019.08.011 · Cited by 33 · see citing works
Self-citationPena, J. L. B., Santos, W. C., Siqueira, M. H. A., et al. (2020) · European Heart Journal - Cardiovascular Imaging · doi:10.1093/ehjci/jeaa176 · Cited by 30 · see citing works
Viuff, M. H., Stochholm, K., Grønbæk, H., Berglund, A., Juul, S., & Gravholt, C. H. (2021) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.16277 · Cited by 30 · cited 2× · see citing works
“Dysregulation of THPO has been implicated in cardiovascular diseases, which are prevalent in 45,X and 47,XXY [11, 60].”
BackgroundViuff, M. H., Stochholm, K., Juul, S., & Gravholt, C. H. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-021-00989-5 · Cited by 27 · cited 1× · see citing works
“CACNA2D1 encodes a protein in the voltage-dependent calcium channel complex, which is essential in neurotransmission, and is associated with epilepsy [49], intellectual disability [50], and cardiac arrhythmias [51] which are conditions with an increased prevalence in 45,X [3, 12, 52].”
BackgroundJohannsen, E. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Lauritsen, K. M., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.928874 · Cited by 24 · see citing works
Self-citationPWWP2B Fine‐Tunes Adipose Thermogenesis by Stabilizing HDACs in a NuRD Subcomplex
Yan, L., Jin, W., Zhao, Q., Cui, X., Shi, T., Xu, Y., Li, F., Jin, W., Zhang, Z., Zhang, Z., et al. (2021) · Advanced Science · doi:10.1002/advs.202102060 · Cited by 16 · see citing works
Hu, J. R., Tang, B., Wang, J., Huang, K., Wang, Y., Lü, S., Gowreesunkur, H. B., Wang, Y., Wu, D., Mayala, H. A., et al. (2020) · Current Medical Science · doi:10.1007/s11596-020-2207-z · Cited by 14 · see citing works
Sinitsky, M. Y., Dyleva, Y. A., Учасова, Е. Г., Belik, E. V., Yuzhalin, A. E., Gruzdeva, O. V., Матвеева, В. Г., & Ponasenko, A. V. (2019) · Archives of Physiology and Biochemistry · doi:10.1080/13813455.2019.1674338 · Cited by 13 · see citing works
Steroid sulfatase inhibitor alters blood pressure and steroid profiles in hypertensive rats
Valigora, S. D., Li, P., Dunphy, G., Turner, M. E., & Ely, D. (2000) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(00)00062-5 · Cited by 12 · see citing works
Beyzaei, Z., Ezgü, F. S., Geramizadeh, B., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00879-1 · Cited by 7 · see citing works
Osteoprotegerin in T urner syndrome – relationship to aortic diameter
Trolle, C., Mortensen, K. H., Bjerre, M., HOUGAARD, D. M., Cohen, A. S., Andersen, N. H., & Gravholt, C. H. (2014) · Clinical Endocrinology · doi:10.1111/cen.12522 · Cited by 5 · see citing works
Self-citationFurther delineation of the acro-renal-ocular syndrome
(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- [62]SLC16A2 solute carrier family 16 member 2 [Homo sapiens (human)]. 2022. Available from: https://www.ncbi.nlm.nih.gov/gene/6567.
- [63]Sarret C, Oliver Petit I, Tonduti D, et al. Allan-Herndon-Dudley Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(®). Seattle: University of Washington, Seattle; 1993. (Copyright © 1993-2022). 20301789
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Self-citation
- Authors
- Viuff, M., Skakkebæk, A., Johannsen, E. B., Chang, S., Pedersen, S. B., Lauritsen, K. M., Pedersen, M. G. B., Trolle, C., Just, J., & Gravholt, C. H.
- Affiliations
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Corresponding author
- Viuff, Mette
- ORCID
- Venue
- Genome Medicine
- Published
- 2023-03-28
- Volume
- 15
- Issue
- 1
- Pages
- 21-21
- ISSN
- 1756-994X (ISSN-L)
- PMC
- PMC10053618
- OpenAlex
- W4361218701
- Cited by
- 34
- References
- 72
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 12 · 2023: 4
- FWCI
- 5.64
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Sundhedsvidenskabelige Fakultet, Aarhus Universitet
- Novo Nordisk ((NNF15OC0016474, NNF20OC0060610))
- Sundhed og Sygdom, Det Frie Forskningsråd ((0134-00130B), (0134-00406A))
- Fonden til Lægevidenskabens Fremme
- Familien Hede Nielsens Fond
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- X chromosome dosage, sex chromosome aneuploidy, 45,X, Klinefelter syndrome, X chromosome number, transcriptome, DNA methylation, tissue-specific gene regulation, Y chromosome genes, XIST, Tsix, KDM6A, ZFX, hypomethylation, hypermethylation, gene downregulation, gene upregulation, adipose tissue, skeletal muscle, blood
- MeSH terms
- Aneuploidy, Humans, Phenotype, Sex Chromosome Aberrations, Transcription Factors, X Chromosome, Y Chromosome, GTP-Binding Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
