Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
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Richard S. Lee | Amita Sharma | E. Mancini | S. Bauer | Weining Lu | R. Lifton | V. Tasic | J. Goodship | A. Gharavi | A. Kispert | A. Woolf | R. Adam | S. Sanna-Cherchi | M. Verbitsky | F. Hildebrandt | H. Jüppner | M. Kemper | S. Lienkamp | S. Westra | A. Vivante | H. Reutter | D. Hwang | Stefan Kohl | E. Kehinde | Marc-Jens Kleppa | Anna-Carina Weiss | R. Beetz | R. Shukrun | D. Doody | T. Goodship | S. Feather | J. Schulz | A. Lehnhardt | H. Stuart | Jing Chen | Michael M. Kaminski | S. Shril | M. Kleppa | A. S. Woolf | Daw-Yang Hwang
[1] Eric Vilain,et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. , 2014, JAMA.
[2] Friedhelm Hildebrandt,et al. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. , 2014, Journal of the American Society of Nephrology : JASN.
[3] Yu-Feng Hu,et al. Biological pacemaker created by minimally invasive somatic reprogramming in pigs with complete heart block , 2014, Science Translational Medicine.
[4] X. Nie,et al. Tbx18 is essential for normal development of vasculature network and glomerular mesangium in the mammalian kidney. , 2014, Developmental biology.
[5] D. G. MacArthur,et al. Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.
[6] V. Tasic,et al. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. , 2014, Kidney international.
[7] I. V. van Rooij,et al. Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association , 2013, Kidney international.
[8] F. Hildebrandt,et al. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans , 2014, Pediatric Nephrology.
[9] A. Kispert,et al. Tbx18 expression demarcates multipotent precursor populations in the developing urogenital system but is exclusively required within the ureteric mesenchymal lineage to suppress a renal stromal fate. , 2013, Developmental biology.
[10] F. Hildebrandt,et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy , 2013, Human Genetics.
[11] R. Ravazzolo,et al. Mutations in DSTYK and dominant urinary tract malformations. , 2013, The New England journal of medicine.
[12] Hee Cheol Cho,et al. Direct conversion of quiescent cardiomyocytes to pacemaker cells by expression of Tbx18 , 2012, Nature Biotechnology.
[13] Stephan J Sanders,et al. Copy-number disorders are a common cause of congenital kidney malformations. , 2012, American journal of human genetics.
[14] H. Omran,et al. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing , 2012, Journal of Medical Genetics.
[15] E. Mancini,et al. Structure of the DNA‐bound T‐box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome , 2011, Proteins.
[16] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[17] S. Levy,et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy , 2010, Nature Genetics.
[18] X. Nie,et al. SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation , 2010, Development.
[19] F. Chen. Genetic and developmental basis for urinary tract obstruction , 2009, Pediatric Nephrology.
[20] A. Moorman,et al. Formation of the Sinus Node Head and Differentiation of Sinus Node Myocardium Are Independently Regulated by Tbx18 and Tbx3 , 2009, Circulation research.
[21] H. Farin,et al. T-box Protein Tbx18 Interacts with the Paired Box Protein Pax3 in the Development of the Paraxial Mesoderm* , 2008, Journal of Biological Chemistry.
[22] W. Grody,et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 , 2008, Genetics in Medicine.
[23] H. Farin,et al. Transcriptional Repression by the T-box Proteins Tbx18 and Tbx15 Depends on Groucho Corepressors*♦ , 2007, Journal of Biological Chemistry.
[24] D. Stablein,et al. Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) * , 2007, Pediatric transplantation.
[25] J. Lupski,et al. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. , 2007, American journal of human genetics.
[26] A. Kispert,et al. Tbx18 regulates the development of the ureteral mesenchyme. , 2006, The Journal of clinical investigation.
[27] V. Papaioannou,et al. T-box genes in vertebrate development. , 2005, Annual review of genetics.
[28] C. Petit,et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[29] A. Kispert,et al. The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments. , 2004, Genes & development.
[30] I. Ichikawa,et al. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. , 2002, Kidney international.
[31] S. Nigam,et al. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. , 2002, Kidney international.
[32] A. Kispert,et al. Cloning and expression analysis of the mouse T-box gene Tbx18 , 2001, Mechanisms of Development.
[33] A. Woolf,et al. A molecular and genetic view of human renal and urinary tract malformations. , 2000, Kidney international.
[34] C. Müller,et al. Crystallographic structure of the T domain–DNA complex of the Brachyury transcription factor , 1997, Nature.