Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome - Wikidata - wikimedia - TriplyDB

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

http://www.wikidata.org/entity/Q36142729

about

Disease-causing missense mutations in human DNA helicase disorders Roles of DNA helicases in the maintenance of genome integrity Cohesinopathies of a feather flock together Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development A Long Noncoding RNA Regulates Sister Chromatid Cohesion A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome Interactive Roles of DNA Helicases and Translocases with the Single-Stranded DNA Binding Protein RPA in Nucleic Acid Metabolism.Linking chromosome duplication and segregation via sister chromatid cohesion A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.A distinct triplex DNA unwinding activity of ChlR1 helicase DNA helicases involved in DNA repair and their roles in cancer A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation.Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesion Next-generation sequencing applied to rare diseases genomics.Genome stability: What we have learned from cohesinopathies.Mechanistic and biological considerations of oxidatively damaged DNA for helicase-dependent pathways of nucleic acid metabolism.How many roads lead to cohesinopathies?The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.RecQ and Fe-S helicases have unique roles in DNA metabolism dictated by their unwinding directionality, substrate specificity, and protein interactions.The emerging roles for the chromatin structure regulators CTCF and cohesin in neurodevelopment and behavior.The elemental role of iron in DNA synthesis and repair.Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.Hsp90 Is Essential for Chl1-Mediated Chromosome Segregation and Sister Chromatid Cohesion.Cornelia de Lange syndrome Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites

P2860

Q26828898-5216063B-9CA3-4E4B-A603-12D0CE6A451C Q26861945-65FCE6B3-EF82-4A59-8F74-5CF1DAFB284C Q26999444-D55157C1-D9A0-4592-BB35-6B48652A0FA7 Q27016169-B6EA84F1-0A66-4A46-8A28-1F63F7A9AEF9 Q27938640-5C8CAD04-33AA-4C2F-95F0-DBD8DC74B9FD Q28114770-D4E650A6-B0CB-4B4A-A372-1D832C3F08DC Q28115001-4C953A39-93B3-450B-9286-EEA295FBBB7D Q28115728-93D5CD1A-34B0-4757-8145-77F352F2A262 Q28261627-CCEDCECF-A04A-42BA-9FF5-9FC63CE09B76 Q30660203-55F7A0D2-C9DD-4989-A351-882FE7505386 Q33838817-4127743F-D1E3-465A-8E4B-547EACCBC1B8 Q33841394-1DB3C7F2-E950-4529-89AF-0835714A7914 Q34862383-9FC6911B-E300-47E5-AAFD-7C7DD8CE9168 Q35104037-89089D23-09B6-4AF1-AB63-347B5302F0E3 Q35961508-866BDA5F-4450-4E45-B124-23CE30EC3BBB Q36347163-DF228E47-561D-4D27-A766-C5766DAD901A Q37201282-3C401225-409D-4A19-88A4-023ADEE364E0 Q37708730-0AEE0168-EE7A-400D-9D27-015F1E527788 Q38202142-02C360D7-FC37-4D8B-A775-F5FE83A2A894 Q38811354-B95DBAD3-DBDA-4EDE-A1A0-17966A8625D7 Q39019092-85812195-CAE8-4CE9-ADC5-F424B6812DF0 Q39250491-29C781CE-DA9B-41CD-A9D4-5D4B7B7B26A3 Q43216345-1BE72773-3864-4AE8-91A1-3D04FC16E4F7 Q47189249-2BA68545-0077-4C24-BE26-E8A1F93DA678 Q47259551-702C8B83-634D-427A-BC51-03F3020864E4 Q50129977-9F32321D-186B-4606-BE96-2CC8DEA80FB5 Q50210334-6BF66DA9-7985-4224-8D69-3FA1D8171912 Q54988197-F753B3E3-1E63-40DF-AD43-A4D41F4F0442 Q55364966-027A68C7-C2CB-48E2-9FE2-26C0F619D44A Q55981973-C8C8099B-494A-41A0-BD58-9C7AF8F6404D Q57753353-033B5872-07E3-43F7-8ADC-ECB70E764D9D

P2860

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

http://www.wikidata.org/entity/Q36142729

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Identification and biochemical ...... using Warsaw breakage syndrome

@ast

Identification and biochemical ...... using Warsaw breakage syndrome

@en

type

label

Identification and biochemical ...... using Warsaw breakage syndrome

@ast

Identification and biochemical ...... using Warsaw breakage syndrome

@en

prefLabel

Identification and biochemical ...... using Warsaw breakage syndrome

@ast

Identification and biochemical ...... using Warsaw breakage syndrome

@en

P1433

Q36142729-443FE54E-81FA-4DCF-BBCB-AD2D17D2C2B0

P1476

Q36142729-31EBBAA1-8438-4381-8BDC-834DC6CC6899

P2093

Q36142729-02F9923D-DA73-4E0F-8603-FEA4B70D1387

Q36142729-207DF9A3-5142-4B0B-89C0-4066C32E3120

Q36142729-2B98F181-C45C-4B2B-9F37-04E89F7E5C00

Q36142729-30F1EDE5-EF58-4BE9-A631-A71945307A8F

Q36142729-4118F56E-C591-419C-B440-9D71B434C615

Q36142729-57CF126E-92A8-4B3C-A946-095B2D00BA9D

Q36142729-77580C77-DCF3-4B13-ACB2-19343EF6BC78

Q36142729-8CBA3AE2-D412-4B26-AF7A-873AA695C6D8

Q36142729-A8CB57A9-CFFA-48DE-A2E0-C22CE4190BE8

Q36142729-C656B99B-6A66-44D7-821B-74F5D523CF1F

P2860

Q36142729-2912E61A-69A5-47D4-AF97-DBFD3A336701

Q36142729-58FF78D0-6B35-406E-9655-6F284780C3A7

Q36142729-69B9BB3C-8DBA-4A2A-A20E-1F2B85A30842

Q36142729-6B94F5AE-AE7C-48AD-BF0D-33AA73958614

Q36142729-6D667084-8717-437E-98E2-F2F7ADE5659B

Q36142729-74C1F5F8-231B-488D-B899-CA6C8F35BFD7

Q36142729-97AB7EFC-647D-4430-AB91-086EC5332063

Q36142729-9A74A7F9-1EC4-422F-941A-955C25923BE1

Q36142729-AB8323ED-8006-4D07-8D9B-8E6B72F44DC4

Q36142729-AE30D57A-17DF-48F8-AFDB-C9F05FCACDA5

P304

Q36142729-A1A94353-5588-40D2-A76D-BE7AA98DE994

P31

Q36142729-83D2EFFA-5478-48CC-B250-A075E9701D63

P356

Q36142729-72FE39DF-B07A-467C-9246-555FF916EC36

P433

Q36142729-D33DB597-B1C2-465F-B2E2-0137CD4F8769

P478

Q36142729-B7369FD2-A986-4AE6-8093-9766EFB581E8

P50

Q36142729-2A282E75-A48B-473C-A2F9-0D614C332B2F

Q36142729-4F6B43A2-0EAA-413D-9B8C-7BC4645F736E

P577

Q36142729-5C13A468-0EE1-4102-93F9-43A3A7BBAA97

P5875

Q36142729-24FE9C14-AC21-4E57-8422-C282BF1EB826

P698

Q36142729-B3495151-A6D3-40EB-B1AB-8C89EEE54CF5

P932

Q36142729-A7DB78BD-0B0A-41EA-87D6-35B79B1A916D

P356

P1433

P1476

Identification and biochemical ...... using Warsaw breakage syndrome

@en

P2093

André Mégarbane

http://www.w3.org/2001/XMLSchema#string

Eliane Chouery

http://www.w3.org/2001/XMLSchema#string

Fadi F Hamdan

http://www.w3.org/2001/XMLSchema#string

Jacques L Michaud

http://www.w3.org/2001/XMLSchema#string

Joshua A Sommers

http://www.w3.org/2001/XMLSchema#string

Lysanne Patry

http://www.w3.org/2001/XMLSchema#string

Mark E Samuels

http://www.w3.org/2001/XMLSchema#string

Robert M Brosh

http://www.w3.org/2001/XMLSchema#string

Sanjay Kumar Bharti

http://www.w3.org/2001/XMLSchema#string

Tony Yammine

http://www.w3.org/2001/XMLSchema#string

P2860

The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells

Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

Functional and structural studies of the nucleotide excision repair helicase XPD suggest a polarity for DNA translocation

Chl1p, a DNA helicase-like protein in budding yeast, functions in sister-chromatid cohesion.

The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein

Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

Biochemical characterization of Warsaw breakage syndrome helicase.

P304

103-107

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.22226

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

34

http://www.w3.org/2001/XMLSchema#string

P50

José-Mario Capo-Chichi

P577

2012-10-17T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

231864259

http://www.w3.org/2001/XMLSchema#string

P698

23033317

http://www.w3.org/2001/XMLSchema#string

P932

4599780

http://www.w3.org/2001/XMLSchema#string