Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing
暂无分享,去创建一个
Eric S. Lander | Aviv Regev | Irit Gat-Viks | Kristian Cibulskis | Michael C. Zody | Chun Jimmie Ye | Robert E. Handsaker | David B. Jaffe | Mark J. Daly | Ramnik J. Xavier | Chad Nusbaum | Stanislav Kmoch | Nathalie Pochet | Corinne Antignac | Moran N. Cabili | Kerstin Lindblad-Toh | Mitchell Guttman | Steven J. Scheinman | Andreas Gnirke | Anthony J. Bleyer | Carrie Sougnez | Stacey Gabriel | Brendan Blumenstiel | Danielle Perrin | K. Cibulskis | S. Gabriel | M. Daly | R. Handsaker | A. Gnirke | C. Nusbaum | K. Lindblad-Toh | A. Regev | E. Lander | D. Jaffe | B. Blumenstiel | M. Defelice | M. Zody | R. Xavier | N. Pochet | C. Sougnez | Melissa Parkin | Andrew W. Kirby | T. Green | M. Cabili | M. Guttman | James T. Robinson | R. Daza | D. Aird | E. Rossin | C. Stevens | C. Antignac | S. Sigurdsson | S. Alper | S. Kmoch | Danielle L Perrin | I. Gat-Viks | M. Pollak | S. Scheinman | Scott Steelman | Andrew Kirby | Snaevar Sigurdsson | Christine Stevens | A. Bleyer | V. Barešová | J. Sovová | H. Hulkova | Todd Green | Elizabeth Rossin | Riza Daza | P. Suzanne Hart | Melissa Parkin | Martin R. Pollak | Seth L. Alper | Veronika Barešová | Chun Ye | Daniel Aird | Edward Kelliher | Matthew DeFelice | Helena Hůlková | Jana Sovová | Petr Vylet’al | S. Steelman | P. Hart | E. Kelliher | P. Vylet’al | Daniel Aird | Todd Green | Irit Gat-Viks | M. DeFelice
[1] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[2] N. Pochet,et al. Sequence-based estimation of minisatellite and microsatellite repeat variability. , 2007, Genome research.
[3] N. Rahman,et al. Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. , 2001, Genomics.
[4] Matthieu Legendre,et al. Variable tandem repeats accelerate evolution of coding and regulatory sequences. , 2010, Annual review of genetics.
[5] David T. Okou,et al. Microarray-based genomic selection for high-throughput resequencing , 2007, Nature Methods.
[6] Joshua M. Korn,et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs , 2008, Nature Genetics.
[7] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[8] Dennis C. Friedrich,et al. A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries , 2011, Genome Biology.
[9] Asal Nr,et al. Hereditary (familial) renal disease: clinical and genetic studies. , 1977 .
[10] J. Coresh,et al. CKD surveillance using laboratory data from the population-based National Health and Nutrition Examination Survey (NHANES). , 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[11] M. Kalbáčová,et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. , 2006, Kidney international.
[12] Joshua M. Korn,et al. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale , 2011, Nature Genetics.
[13] Sandra J. Gendler,et al. Delayed Mammary Tumor Progression in Muc-1 Null Mice (*) , 1995, The Journal of Biological Chemistry.
[14] I. Järvelä,et al. Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. , 2001, Kidney international.
[15] E. Coccia,et al. RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord , 2009, Nature Cell Biology.
[16] D. Altshuler,et al. A map of human genome variation from population-scale sequencing , 2010, Nature.
[17] F. Hildebrandt,et al. Medullary cystic kidney disease type 1 in a large Native-American kindred. , 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[18] F. Scolari,et al. Uromodulin storage diseases: clinical aspects and mechanisms. , 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[19] S. Kmoch,et al. Hereditary interstitial kidney disease. , 2010, Seminars in nephrology.
[20] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[21] D. Cavallone,et al. Tamm-Horsfall glycoprotein: biology and clinical relevance. , 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[22] A. Pierides,et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. , 1998, Human molecular genetics.
[23] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[24] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[25] J. White,et al. MUC 1: a genetic susceptibility to infertility? , 2001, The Lancet.
[26] Life Technologies,et al. A map of human genome variation from population-scale sequencing , 2011 .
[27] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[28] H. Hennies,et al. Telomeric refinement of the MCKD1 locus on chromosome 1q21. , 2004, Kidney international.
[29] J. Fowler,et al. Hypervariability of the membrane-associated mucin and cancer marker MUC1 , 2003, Human Genetics.
[30] Stan Baggen,et al. Error Correction , 1984 .
[31] E. Lander,et al. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.
[32] G. Abecasis,et al. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.
[33] J. Kelsoe,et al. Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. , 2005, The American journal of psychiatry.
[34] I. Tikhonova,et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing , 2009, Proceedings of the National Academy of Sciences.
[35] A. Thathiah,et al. MUC1: A multifunctional cell surface component of reproductive tissue epithelia , 2004, Reproductive biology and endocrinology : RB&E.
[36] G. Genovese,et al. Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing. , 2011, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[37] N. Smorodinsky,et al. The MUC1 SEA Module Is a Self-cleaving Domain* , 2005, Journal of Biological Chemistry.
[38] H. Hennies,et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing , 2006, Human Genetics.