Mutations in the NHEJ component XRCC4 cause primordial dwarfism - Test2 - elhamkhani - TriplyDB

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

http://www.wikidata.org/entity/Q28258055

about

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Advances in Skeletal Dysplasia Genetics Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data.Genomic insights into growth and its disorders: an update.Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Cloning, localization and focus formation at DNA damage sites of canine XRCC4.Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.Congenital defects in V(D)J recombination.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human disease Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.Regulation of non-homologous end joining via post-translational modifications of components of the ligation step.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy Cell-type specific role of the RNA-binding protein, NONO, in the DNA double-strand break response in the mouse testes.Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology.Dissection of DNA double-strand-break repair using novel single-molecule forceps

P2860

Q26770859-629D2183-4074-45F0-A82B-29953D77800F Q28261525-42248013-C5EA-46CA-8CF4-69A85D08EA9E Q29994631-8948B5CA-3020-4EF1-B5E7-FAA52163FC2D Q34679213-AE54B819-CB48-4137-B004-2281460F9E66 Q36349113-C5D71CC8-AC69-4CAE-81C2-1B6E51D99C6A Q36523621-E69FBF58-B727-40EA-9DC4-56BCF6D8C0D7 Q36828393-C52B1EE9-C33C-4687-B6A6-2FA95BC52DA8 Q37590074-4D380B7B-C92C-4225-8B88-8083521875A1 Q38437193-DF42D0B1-B51B-447C-BF74-331BECCBEE7A Q38490471-19E489BA-D8B6-42A4-B9D6-A480762FE581 Q38604020-9F497729-80CF-481E-AA92-3BC0CB6A5D1F Q38832406-407139C7-6D51-4DB3-A553-7566BED974DD Q39028618-A35D4E8A-D2CA-432E-A74F-EFF19AB0CEE9 Q41654115-6DB1941E-90F3-49B3-B5A3-AA89541BBB9F Q42408425-F616B5F3-63A2-4756-B463-7AA2B3DA0E49 Q42408435-F66FC536-1AA5-43F6-8BB3-6B93F914536D Q50320252-2265A779-6550-44DF-B308-6544ABB74F1A Q52133826-7784B859-3D18-4D74-9E61-3D7826ADF99F Q55273319-86DA0D27-2797-439E-9A4E-9DC133884546 Q57360204-D96A7E2B-9ECA-4F58-8FDB-7F9EE9F74518

P2860

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

http://www.wikidata.org/entity/Q28258055

description

2015 nî lūn-bûn

@nan

2015 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մարտին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@ast

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@en

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@nl

type

label

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@ast

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@en

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@nl

prefLabel

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@ast

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@en

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@nl

P1433

Q28258055-E7C3F0D5-92FB-4CB3-BD83-D51D239CE669

P1476

Q28258055-702B5B01-2576-40B5-8B42-73E597A8AD03

P2093

Q28258055-2BA41956-8BC4-4958-9A58-CAD9C3D18CA8

Q28258055-3CB6078B-A036-476A-B180-754719232B5A

Q28258055-3DEE736F-3B70-44A0-8AA3-FB6771C1C958

Q28258055-4D02DC1B-00AD-4001-A662-D67936877AF3

Q28258055-5B987CEA-4878-4E32-AB4D-A4038662ED67

Q28258055-788FDDFC-1484-491E-A7E2-3C84A04495C6

Q28258055-79D087A9-E75A-4BB3-9951-A1487806EEB9

Q28258055-8CF72364-A412-4853-BFCC-765DBD525D3C

Q28258055-9F3FF08D-63D9-4F68-828E-844C5609060B

Q28258055-A3299C5F-75B9-4C41-9D6A-F6A0AD2CFBD1

P2860

Q28258055-0159ED4C-AD65-45FF-AB97-402ECE6D988F

Q28258055-0258C541-3AFC-4FE1-98A8-79B813DC2021

Q28258055-072ECE6E-658B-4607-9B29-966D2C196080

Q28258055-08B51B51-7D7C-4798-BB3F-89EC76A2402B

Q28258055-164A51E4-8926-48E9-9AF3-8A5A9567E7AB

Q28258055-22FAAFFE-F987-4D4B-B07E-C04C73CAC679

Q28258055-240F0FDF-5A12-49B0-BE96-1344CB52F203

Q28258055-26053048-F2AB-433B-A532-FB13E71263A5

Q28258055-2C03724A-3B0A-4F75-9F64-74F06F4064EB

Q28258055-37E35E67-C350-4ED5-9A67-240E4E89DE1D

P304

Q28258055-242CA63F-5E98-4728-B03D-ACEC4A61BB9B

P31

Q28258055-5AD36D36-F8FD-4BD8-A1FD-3C0D573A8B64

P356

Q28258055-775EFFD2-AE07-4258-B298-A4E1EBB60D3B

P407

Q28258055-378A6167-30A1-4CBE-965F-FE44ECD97F21

P433

Q28258055-632E053A-3160-4465-B81B-0DA2D9E8CBAE

P478

Q28258055-9B479138-D100-4E80-B00B-E2B9C201B7B7

P50

Q28258055-07E89D50-9543-43AE-B9E7-52E5BAFCC4CE

Q28258055-24C8EFB4-956B-48CD-9599-779FA436111E

Q28258055-89A10F07-D84D-40EC-88ED-17A734CE4905

Q28258055-9D3AA6B9-B46F-473A-A668-33ACBA4B2E3D

Q28258055-E999ADF0-CD25-460B-9CC1-7F29C63CE6DA

Q28258055-F0E81388-4EDE-486B-AB89-FECA5570F1E5

P577

Q28258055-EE210AAA-105D-45EC-AFDC-425B38CF150F

P5875

Q28258055-D212F2E4-6452-4B71-90D6-D431748B2140

P698

Q28258055-61B07EA8-AC25-47D7-963E-A1F821657143

P932

Q28258055-87F3EAC8-6EF0-4D6A-9F1D-034089990B13

P356

J.AJHG.2015.01.013

P1433

American Journal of Human Genetics

P1476

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

@en

P2093

Alireza Jawad

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

Andrea Leitch

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

Armand Bottani

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

Boris Kysela

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

Charu Deshpande

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

Edward S Miller

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

Eissa A Faqeih

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

Emmanuelle Ranza

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

Francesco Brancati

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

Gail E Graham

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

P2860

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

Crystal structure of an Xrcc4-DNA ligase IV complex

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV

ATM damage response and XLF repair factor are functionally redundant in joining DNA breaks

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

CtIP Mutations Cause Seckel and Jawad Syndromes

Non-homologous end-joining partners in a helical dance: structural studies of XLF-XRCC4 interactions

P304

412-24

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

P31

scholarly article

P356

10.1016/J.AJHG.2015.01.013

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

P407

P433

3

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

P478

96

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

P50

Grant S Stewart

Valerie Cormier-Daire

P577

2015-03-05T00:00:00Z

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

P5875

273065774

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

P698

25728776

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

P932

4375537

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