Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
about
Genetic variation and the de novo assembly of human genomesARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesInterleukin-22 in kidney injury and regeneration.MUC1-ARF-A Novel MUC1 Protein That Resides in the Nucleus and Is Expressed by Alternate Reading Frame Translation of MUC1 mRNA.Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in PatientsExome sequencing in suspected monogenic dyslipidemias.Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.Coherent somatic mutation in autoimmune disease.Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Next-generation sequencing: The genome jigsaw.The landscape of human STR variation.Exploring the genetic basis of early-onset chronic kidney disease.An emerging place for lung cancer genomics in 2013.Sequence variation within the KIV-2 copy number polymorphism of the human LPA gene in African, Asian, and European populations.Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorderMuc1 is protective during kidney ischemia-reperfusion injuryA protocol for the identification and validation of novel genetic causes of kidney diseaseMutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancersA High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination.Applications of high-throughput DNA sequencing to benign hematologyGenome reference and sequence variation in the large repetitive central exon of human MUC5AC.Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.Expression of truncated bile salt-dependent lipase variant in pancreatic pre-neoplastic lesions.Uromodulin: old friend with new roles in health and disease.Genetics in kidney disease in 2013: Susceptibility genes for renal and urological disorders.Rare and low-frequency variants in human common diseases and other complex traits.Uromodulin: from monogenic to multifactorial diseases.An approach to cystic kidney diseases: the clinician's view.Exploring the role and diversity of mucins in health and disease with special insight into non-communicable diseases.Uromodulin: from physiology to rare and complex kidney disorders.KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.Ciliopathies: Genetics in Pediatric Medicine.Autosomal Dominant Tubulointerstitial Kidney Disease.
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P2860
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
description
2013 nî lūn-bûn
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2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Mutations causing medullary cy ...... massively parallel sequencing
@ast
Mutations causing medullary cy ...... massively parallel sequencing
@en
Mutations causing medullary cy ...... massively parallel sequencing
@nl
type
label
Mutations causing medullary cy ...... massively parallel sequencing
@ast
Mutations causing medullary cy ...... massively parallel sequencing
@en
Mutations causing medullary cy ...... massively parallel sequencing
@nl
prefLabel
Mutations causing medullary cy ...... massively parallel sequencing
@ast
Mutations causing medullary cy ...... massively parallel sequencing
@en
Mutations causing medullary cy ...... massively parallel sequencing
@nl
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Mutations causing medullary cy ...... massively parallel sequencing
@en
P2093
Andrew Kirby
Anthony J Bleyer
Brendan Blumenstiel
Christine Stevens
Daniel Aird
Danielle Perrin
Edward Kelliher
Elizabeth Rossin
Irit Gat-Viks
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P2888
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P3181
P356
10.1038/NG.2543
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P577
2013-03-01T00:00:00Z
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1017642739