Transcriptomic differences between fibrotic and non-fibrotic testicular tissue reveal possible key players in Klinefelter syndrome-related testicular fibrosis

[1]  Zheng Li,et al.  Variations of C14ORF39 and SYCE1 identified in idiopathic premature ovarian insufficiency and nonobstructive azoospermia. , 2021, The Journal of clinical endocrinology and metabolism.

[2]  D. Conrad,et al.  Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome. , 2021, American journal of human genetics.

[3]  S. Abe,et al.  VCAM1-α4β1 integrin interaction mediates interstitial tissue reconstruction in 3-D re-aggregate culture of dissociated prepubertal mouse testicular cells , 2021, Scientific Reports.

[4]  Zheng Li,et al.  Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells , 2020, Nature Communications.

[5]  M. Kuhlmann,et al.  Testicular blood supply is altered in the 41,XXY* Klinefelter syndrome mouse model , 2020, Scientific Reports.

[6]  H. Tournaye,et al.  Testicular immune cells and vasculature in Klinefelter syndrome from childhood up to adulthood. , 2020, Human reproduction.

[7]  M. Schierup,et al.  Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli cells in the testicular pathogenesis , 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

[8]  I. Gies,et al.  Germ cell loss in Klinefelter syndrome: When and why? , 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

[9]  H. Tournaye,et al.  Characterization of the stem cell niche components within the seminiferous tubules in testicular biopsies of Klinefelter patients. , 2020, Fertility and sterility.

[10]  I. Sjaastad,et al.  Moderate Loss of the Extracellular Matrix Proteoglycan Lumican Attenuates Cardiac Fibrosis in Mice Subjected to Pressure Overload , 2020, Cardiology.

[11]  A. Atala,et al.  Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. , 2019, Human reproduction update.

[12]  G. Meyer zu Hörste,et al.  High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting , 2019, Clinical Epigenetics.

[13]  B. Scheffler,et al.  Whole genome sequencing of Asia II 1 species of whitefly reveals that genes involved in virus transmission and insecticide resistance have genetic variances between Asia II 1 and MEAM1 species , 2019, BMC Genomics.

[14]  M. Linial,et al.  Human genes escaping X-inactivation revealed by single cell expression data , 2018, BMC Genomics.

[15]  R. Oates,et al.  Recent advances in managing and understanding Klinefelter syndrome , 2019, F1000Research.

[16]  J. S. Pedersen,et al.  DNA hypermethylation and differential gene expression associated with Klinefelter syndrome , 2018, Scientific Reports.

[17]  E. Nieschlag,et al.  Klinefelter syndrome: more than hypogonadism. , 2018, Metabolism: clinical and experimental.

[18]  H. Tournaye,et al.  When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? , 2018, Human reproduction.

[19]  S. Brunak,et al.  Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells , 2018, Cell Death & Disease.

[20]  M. R. Kim,et al.  Emerging Roles of Vascular Cell Adhesion Molecule-1 (VCAM-1) in Immunological Disorders and Cancer , 2018, International journal of molecular sciences.

[21]  M. Schierup,et al.  Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation , 2018, Human molecular genetics.

[22]  Shaocong Li,et al.  MXRA5 is decreased in preeclampsia and affects trophoblast cell invasion through the MAPK pathway , 2017, Molecular and Cellular Endocrinology.

[23]  A. Lenzi,et al.  Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis , 2017, Human reproduction update.

[24]  O. Trubiani,et al.  Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis , 2017, Scientific Reports.

[25]  M. Sánchez-Niño,et al.  MXRA5 is a TGF‐β1‐regulated human protein with anti‐inflammatory and anti‐fibrotic properties , 2016, Journal of cellular and molecular medicine.

[26]  S. Brunak,et al.  Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity , 2016, Human molecular genetics.

[27]  G. Pazour,et al.  Ror2 signaling regulates Golgi structure and transport through IFT20 for tumor invasiveness , 2017, Scientific Reports.

[28]  J. Tedrow,et al.  VCAM-1 is a TGF-β1 inducible gene upregulated in idiopathic pulmonary fibrosis. , 2015, Cellular signalling.

[29]  A. Rajkovic,et al.  X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. , 2015, The New England journal of medicine.

[30]  M. d’Aurora,et al.  Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis , 2015, BMC Genomics.

[31]  S. Kliesch,et al.  Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. , 2015, The Journal of clinical endocrinology and metabolism.

[32]  Ping Liu,et al.  Global transcriptome analysis of peripheral blood identifies the most significantly down‐regulated genes associated with metabolism regulation in Klinefelter syndrome , 2015, Molecular reproduction and development.

[33]  Yeisoo Yu,et al.  Uncovering the novel characteristics of Asian honey bee, Apis cerana, by whole genome sequencing , 2015, BMC Genomics.

[34]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[35]  Paul Theodor Pyl,et al.  HTSeq—a Python framework to work with high-throughput sequencing data , 2014, bioRxiv.

[36]  H. Leffers,et al.  Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. , 2014, Human reproduction.

[37]  E. Nieschlag,et al.  Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization – a preliminary report , 2014, Andrology.

[38]  Wei-jie Zhu,et al.  Evaluation on Changes of Testicular Histology in Aging Men , 2013 .

[39]  A. Mayerhofer.  Human testicular peritubular cells: more than meets the eye. , 2013, Reproduction.

[40]  Mark R. Morris,et al.  Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2. , 2013, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.

[41]  L. Yao,et al.  Identification of MXRA5 as a novel biomarker in colorectal cancer , 2012, Oncology letters.

[42]  C. Gravholt,et al.  Clinical review: Klinefelter syndrome--a clinical update. , 2013, The Journal of clinical endocrinology and metabolism.

[43]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[44]  Johannes E. Schindelin,et al.  Fiji: an open-source platform for biological-image analysis , 2012, Nature Methods.

[45]  E. Puigdomènech,et al.  Expression of the TGF-beta1 system in human testicular pathologies , 2010, Reproductive biology and endocrinology : RB&E.

[46]  A. Lenzi,et al.  Consensus statement on diagnosis and clinical management of Klinefelter syndrome , 2010, Journal of endocrinological investigation.

[47]  T. Hämäläinen,et al.  Male 41, XXY* mice as a model for klinefelter syndrome: hyperactivation of leydig cells. , 2010, Endocrinology.

[48]  Caroline C. Friedel,et al.  HALO - a Java framework for precise transcript half-life determination , 2010, Bioinform..

[49]  E. Vreugdenhil,et al.  The doublecortin gene family and disorders of neuronal structure. , 2010, Central nervous system agents in medicinal chemistry.

[50]  Philip D. Harvey,et al.  Dysregulation of X‐linked gene expression in Klinefelter's syndrome and association with verbal cognition , 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[51]  Anders Juul,et al.  Natural history of seminiferous tubule degeneration in Klinefelter syndrome. , 2006, Human reproduction update.

[52]  H. Willard,et al.  X-inactivation profile reveals extensive variability in X-linked gene expression in females , 2005, Nature.

[53]  E. Nieschlag,et al.  X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. , 2004, The Journal of clinical endocrinology and metabolism.

[54]  Jian Xu,et al.  Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis , 2003, Journal of Human Genetics.

[55]  C. Gravholt,et al.  Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. , 2003, The Journal of clinical endocrinology and metabolism.

[56]  M. Laato,et al.  CD 99 and CD 106 (VCAM-1) in human testis. , 2002, Asian journal of andrology.

[57]  M. Khalifa,et al.  Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males , 2002, Clinical genetics.

[58]  F. Bischoff,et al.  Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. , 2001, American journal of medical genetics.

[59]  V. Beneš,et al.  A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. , 2000, American journal of human genetics.

[60]  Susumu Goto,et al.  KEGG: Kyoto Encyclopedia of Genes and Genomes , 2000, Nucleic Acids Res..

[61]  O. Simell,et al.  CD106 (VCAM-1) in testicular immunoregulation. , 1997, Journal of reproductive immunology.

[62]  E. Ruoslahti,et al.  Negative regulation of transforming growth factor-β by the proteoglycan decorin , 1990, Nature.

[63]  E. Ruoslahti,et al.  Negative regulation of transforming growth factor-beta by the proteoglycan decorin. , 1990, Nature.

[64]  J. Massagué,et al.  Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. , 1986, The Journal of biological chemistry.

[65]  P. D. Semple.  KLINEFELTER'S SYNDROME , 1977, The Medical journal of Australia.

[66]  F. Albright,et al.  Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1 , 1942 .

[67]  Supplemental Information 2: Kyoto Encyclopedia of genes and genomes. , 2022 .