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Results 1 - 20 of 2,540  for All Library Resources

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1
Chromosome Engineering Allows the Efficient Isolation of Vertebrate Neocentromeres
Chromosome Engineering Allows the Efficient Isolation of Vertebrate Neocentromeres
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Chromosome Engineering Allows the Efficient Isolation of Vertebrate Neocentromeres

Developmental cell, 2013-03, Vol.24 (6), p.635-648 [Peer Reviewed Journal]

2013 Elsevier Inc. ;Copyright © 2013 Elsevier Inc. All rights reserved. ;2013 ELL & Excerpta Medica. 2013 Elsevier Inc. ;ISSN: 1534-5807 ;EISSN: 1878-1551 ;DOI: 10.1016/j.devcel.2013.02.009 ;PMID: 23499358

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2
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
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Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Journal of the American Society of Nephrology, 2021-09, Vol.32 (9), p.2273-2290 [Peer Reviewed Journal]

Copyright © 2021 by the American Society of Nephrology. ;Copyright © 2021 by the American Society of Nephrology 2021 ;ISSN: 1046-6673 ;EISSN: 1533-3450 ;DOI: 10.1681/ASN.2020071065 ;PMID: 34400539

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3
Epigenetic Silencing of CDR1as Drives IGF2BP3-Mediated Melanoma Invasion and Metastasis
Epigenetic Silencing of CDR1as Drives IGF2BP3-Mediated Melanoma Invasion and Metastasis
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Epigenetic Silencing of CDR1as Drives IGF2BP3-Mediated Melanoma Invasion and Metastasis

Cancer cell, 2020-01, Vol.37 (1), p.55-70.e15 [Peer Reviewed Journal]

2019 Elsevier Inc. ;Copyright © 2019 Elsevier Inc. All rights reserved. ;ISSN: 1535-6108 ;EISSN: 1878-3686 ;DOI: 10.1016/j.ccell.2019.12.007 ;PMID: 31935372

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4
Circular RNAs are a large class of animal RNAs with regulatory potency
Circular RNAs are a large class of animal RNAs with regulatory potency
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Circular RNAs are a large class of animal RNAs with regulatory potency

Nature (London), 2013-03, Vol.495 (7441), p.333-338 [Peer Reviewed Journal]

Copyright Nature Publishing Group Mar 21, 2013 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature11928 ;PMID: 23446348 ;CODEN: NATUAS

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5
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
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Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

Journal of the American Society of Nephrology, 2019-10, Vol.30 (10), p.2000-2016 [Peer Reviewed Journal]

Copyright © 2019 by the American Society of Nephrology. ;Copyright © 2019 by the American Society of Nephrology 2019 ;ISSN: 1046-6673 ;ISSN: 1533-3450 ;EISSN: 1533-3450 ;DOI: 10.1681/asn.2019030218 ;PMID: 31537649

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6
Prevalence and architecture of de novo mutations in developmental disorders
Prevalence and architecture of de novo mutations in developmental disorders
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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Feb 23, 2017 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature21062 ;PMID: 28135719 ;CODEN: NATUAS

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7
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

PloS one, 2016-09, Vol.11 (9), p.e0161802-e0161802 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Savige et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Savige et al 2016 Savige et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0161802 ;PMID: 27627812

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8
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group
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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

Kidney international, 2018-05, Vol.93 (5), p.1045-1051 [Peer Reviewed Journal]

2018 International Society of Nephrology ;Copyright © 2018 International Society of Nephrology. Published by Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited May 2018 ;ISSN: 0085-2538 ;EISSN: 1523-1755 ;DOI: 10.1016/j.kint.2017.12.018 ;PMID: 29551517

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9
Systemic RNA delivery to dendritic cells exploits antiviral defence for cancer immunotherapy
Systemic RNA delivery to dendritic cells exploits antiviral defence for cancer immunotherapy
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Systemic RNA delivery to dendritic cells exploits antiviral defence for cancer immunotherapy

Nature (London), 2016-06, Vol.534 (7607), p.396-401 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Jun 16, 2016 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature18300 ;PMID: 27281205 ;CODEN: NATUAS

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10
Guidelines for Genetic Testing and Management of Alport Syndrome
Guidelines for Genetic Testing and Management of Alport Syndrome
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Guidelines for Genetic Testing and Management of Alport Syndrome

Clinical journal of the American Society of Nephrology, 2022-01, Vol.17 (1), p.143-154 [Peer Reviewed Journal]

Copyright © 2022 by the American Society of Nephrology. ;Copyright © 2022 by the American Society of Nephrology 2022 ;ISSN: 1555-9041 ;EISSN: 1555-905X ;DOI: 10.2215/CJN.04230321 ;PMID: 34930753

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11
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Nature genetics, 2018-04, Vol.50 (4), p.581-590 [Peer Reviewed Journal]

Copyright Nature Publishing Group Apr 2018 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0067-2 ;PMID: 29507423

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12
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature genetics, 2016-09, Vol.48 (9), p.1060-1065 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3627 ;PMID: 27479907

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13
Inflammation and functional iron deficiency regulate fibroblast growth factor 23 production
Inflammation and functional iron deficiency regulate fibroblast growth factor 23 production
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Inflammation and functional iron deficiency regulate fibroblast growth factor 23 production

Kidney international, 2016-01, Vol.89 (1), p.135-146 [Peer Reviewed Journal]

2015 International Society of Nephrology ;Copyright © 2015 International Society of Nephrology. Published by Elsevier Inc. All rights reserved. ;ISSN: 0085-2538 ;EISSN: 1523-1755 ;DOI: 10.1038/ki.2015.290 ;PMID: 26535997

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14
Human Centromeres Produce Chromosome-Specific and Array-Specific Alpha Satellite Transcripts that Are Complexed with CENP-A and CENP-C
Human Centromeres Produce Chromosome-Specific and Array-Specific Alpha Satellite Transcripts that Are Complexed with CENP-A and CENP-C
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Human Centromeres Produce Chromosome-Specific and Array-Specific Alpha Satellite Transcripts that Are Complexed with CENP-A and CENP-C

Developmental cell, 2017-08, Vol.42 (3), p.226-240.e6 [Peer Reviewed Journal]

2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 1534-5807 ;EISSN: 1878-1551 ;DOI: 10.1016/j.devcel.2017.07.001 ;PMID: 28787590

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15
Circular RNA_LARP4 inhibits cell proliferation and invasion of gastric cancer by sponging miR-424-5p and regulating LATS1 expression
Circular RNA_LARP4 inhibits cell proliferation and invasion of gastric cancer by sponging miR-424-5p and regulating LATS1 expression
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Circular RNA_LARP4 inhibits cell proliferation and invasion of gastric cancer by sponging miR-424-5p and regulating LATS1 expression

Molecular cancer, 2017-09, Vol.16 (1), p.151-151, Article 151 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1476-4598 ;EISSN: 1476-4598 ;DOI: 10.1186/s12943-017-0719-3 ;PMID: 28893265

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16
Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen
Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen
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Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

The New England journal of medicine, 2008-03, Vol.358 (10), p.1018-1028 [Peer Reviewed Journal]

Copyright © 2008 Massachusetts Medical Society. All rights reserved. ;2008 INIST-CNRS ;Copyright 2008 Massachusetts Medical Society. ;ISSN: 0028-4793 ;ISSN: 1533-4406 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa0706487 ;PMID: 18322283 ;CODEN: NEJMAG

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17
The SARS-CoV-2 RNA interactome
The SARS-CoV-2 RNA interactome
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The SARS-CoV-2 RNA interactome

Molecular cell, 2021-07, Vol.81 (13), p.2838-2850.e6 [Peer Reviewed Journal]

2021 Elsevier Inc. ;Copyright © 2021 Elsevier Inc. All rights reserved. ;2021 Elsevier Inc. 2021 Elsevier Inc. ;ISSN: 1097-2765 ;EISSN: 1097-4164 ;DOI: 10.1016/j.molcel.2021.04.022 ;PMID: 33989516

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18
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS
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Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

Clinical journal of the American Society of Nephrology, 2019-02, Vol.14 (2), p.213-223 [Peer Reviewed Journal]

Copyright © 2019 by the American Society of Nephrology. ;Copyright © 2019 by the American Society of Nephrology 2019 ;ISSN: 1555-9041 ;EISSN: 1555-905X ;DOI: 10.2215/CJN.08750718 ;PMID: 30647093

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19
Evidence of digenic inheritance in Alport syndrome
Evidence of digenic inheritance in Alport syndrome
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Evidence of digenic inheritance in Alport syndrome

Journal of medical genetics, 2015-03, Vol.52 (3), p.163-174 [Peer Reviewed Journal]

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Copyright: 2015 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2014-102822 ;PMID: 25575550 ;CODEN: JMDGAE

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20
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Circulation research, 2019-02, Vol.124 (4), p.553-563 [Peer Reviewed Journal]

2019 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.118.313250 ;PMID: 30582441

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