Mechanisms and consequences of somatic mosaicism in humans - Test2 - elhamkhani - TriplyDB

Mechanisms and consequences of somatic mosaicism in humans

Mechanisms and consequences of somatic mosaicism in humans

http://www.wikidata.org/entity/Q28205052

about

sameAs

Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy Detectable clonal mosaicism and its relationship to aging and cancer Characterization of large structural genetic mosaicism in human autosome Uncertainty principle of genetic information in a living cell.Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive Unrevealed mosaicism in the next-generation sequencing era Somatic mosaicism in the human genome Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities New insights into the generation and role of de novo mutations in health and disease Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients Detectable clonal mosaicism in the human genome Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Reevaluation of the safety of induced pluripotent stem cells: a call from somatic mosaicism Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Chaetognath transcriptome reveals ancestral and unique features among bilaterians The ageing genome, clonal mosaicism and chronic disease.PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.Aneuploidy and confined chromosomal mosaicism in the developing human brain.Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.Piecing together the problems in diagnosing low-level chromosomal mosaicism.Contribution of genetic, epigenetic and transcriptomic differences to twin discordance in multiple sclerosis.Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia.Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences.Checkpoint genes and Exo1 regulate nearby inverted repeat fusions that form dicentric chromosomes in Saccharomyces cerevisiae Somatic genome variations in health and disease Molecular cytogenetic diagnosis and somatic genome variations.

P2860

Q21198881-2EB4BF6F-EA01-4310-9A63-AD0A71A2761F Q23916196-EE406CF6-4B90-4293-9A36-484D95E321BE Q24169697-F0AC0942-EFE2-4562-A8AB-F79D20D4147F Q24815727-73841482-FDC3-479E-BF53-280A20DC5A1E Q26769649-25C9A7C6-9947-4EFC-9890-174C239157CC Q26781758-238A89B8-DB43-4B3E-AD06-8A442E269FB1 Q26823199-C577DF71-307D-4E72-9018-E0AC5BD477CC Q27310768-05BAF993-4937-481B-9B9E-6F448A1E6F1F Q27908479-1968DF0B-E209-4A54-BFE7-ACD28AD2C39C Q28071260-61410B07-3EDA-4793-8EB5-D685C494E231 Q28073446-BABEE450-1972-4992-8D6D-07FF268D91DD Q28385225-946359C7-1E21-41BD-8CF0-DBFD3003C516 Q28385687-0329EFD1-3529-46DD-A696-B55D7B7E20EB Q28387263-4ECBAB6C-E6A9-40F5-A056-AF235D2EB1A7 Q28388948-31F90A01-8219-47E6-94DA-AF9C1CDF3778 Q28390831-C10B7A55-0CCC-4C77-BD82-DAC75EE7195E Q28392522-6ADE83B3-27DA-4926-9E0A-5D76A465F35E Q28392579-8C8D5265-821D-4878-8CA9-66E709CAE7B4 Q28394874-C20F0783-A35D-4BFE-8F4E-C851087DFC1B Q28396075-4963F730-6605-4198-A07F-1BAB33A6AE61 Q28397138-15C38991-3D39-4CDA-B418-0C9CA27F87DA Q28757616-233E9B6A-E6A1-428A-9698-D788C1AE28BA Q30239099-9805663E-C3B4-4B7F-AE7C-303ED983CEEB Q30300538-C0971DD4-042A-485C-B1F3-3BEF1D1765F4 Q30408869-B113F1A6-A147-4B0E-B69A-8C7EDEB7A82A Q30626337-B6E5BE87-8A89-43CA-8DA6-01BE740C15AA Q33288955-7C106DA5-C598-4671-92F5-8C5A6A245831 Q33784873-A71D11E1-DC25-40B4-B787-B3F56672EE57 Q33903385-9CC4BD4C-565C-4DFA-8C4F-15A02AE8EBD2 Q33909746-04FE5FE4-94CE-4C9A-8692-54B4DE7C9808 Q33917243-4DA4098C-04B4-4DF2-8DA9-58FD614135A9 Q33960537-36AB08F2-1698-4B0B-9E01-F03A02DDB15A Q34073503-332758CC-60BF-4869-BCFF-467C25D8FEFB Q34136311-306E0C41-CEFC-4029-8E15-CF761472C9CD Q34137363-45447254-4EFB-40D9-B438-E4FF1AC4AC07 Q34351784-0D0A1C9F-F08E-423B-8448-A6039B2B06F8 Q34381971-993D7B7C-B365-487A-90CB-5DECED65C2D8 Q34411080-8AB39645-7D75-47C9-B34D-A2BF304B9872 Q34479594-C9C5DC5E-A5D2-4433-81D2-1647AB6D7787 Q34479630-60316848-7E36-4785-9DA2-B7EE35D341CF

P2860

Mechanisms and consequences of somatic mosaicism in humans

http://www.wikidata.org/entity/Q28205052

description

2002 nî lūn-bûn

@nan

2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Mechanisms and consequences of somatic mosaicism in humans

@ast

Mechanisms and consequences of somatic mosaicism in humans

@en

Mechanisms and consequences of somatic mosaicism in humans

@nl

type

label

Mechanisms and consequences of somatic mosaicism in humans

@ast

Mechanisms and consequences of somatic mosaicism in humans

@en

Mechanisms and consequences of somatic mosaicism in humans

@nl

prefLabel

Mechanisms and consequences of somatic mosaicism in humans

@ast

Mechanisms and consequences of somatic mosaicism in humans

@en

Mechanisms and consequences of somatic mosaicism in humans

@nl

P1433

Q28205052-A36E25F1-88A4-496C-B056-A7C2BD94FB48

P1476

Q28205052-904FCD48-1204-4081-956D-2727FDAABAAC

P2093

Q28205052-3328699F-C939-49EB-AAA8-14ABFD749E55

Q28205052-AD774AB8-4974-406F-B89D-3F371411AFE6

P2860

Q28205052-024E2EDC-B6C3-4300-BC5B-AA9AB8D9D6E5

Q28205052-057590B6-7A74-4EFE-9E77-D6B628876BA3

Q28205052-065F951B-9D5A-42E9-89C6-30A74C69C2B9

Q28205052-0A8DA985-D4BB-4DE8-AA62-08B9BA82A8C3

Q28205052-0CA008DC-F37C-46CB-87C9-27C774A8E70A

Q28205052-0D8B3007-1FE5-43AB-8E7F-0A6A4F2D39A8

Q28205052-14A7D571-B3BB-44AA-A91F-54D989C7695A

Q28205052-1670AA38-2561-475D-B5B1-05A361F33339

Q28205052-176831EF-6C57-496C-AA1C-8783AC3AD9D4

Q28205052-19994771-0D21-43A2-BA91-BB947326F0DD

P2888

Q28205052-B14CEBB8-33EB-4CD7-8EE1-54F4116F62A6

P304

Q28205052-D4A930FA-8F80-4810-B6EE-E9FAD08D7019

P31

Q28205052-F8097124-EB68-4D5C-9281-4787FB2EDA45

P3181

Q28205052-677BE3BD-2938-4F5C-B058-D6FB0ECC1BD8

P356

Q28205052-3158C951-AF18-44E9-BF25-80EECFA1BD96

P407

Q28205052-C1648957-0E23-4212-9DDC-92E274D359CB

P433

Q28205052-32F79866-8F54-4CA1-93F5-2BBE90AE88DD

P478

Q28205052-FDFC5E9E-891D-40B4-A501-8FFEA8C3350A

P577

Q28205052-56610F2B-72FE-4314-B7AB-4D924CB37679

P6179

Q28205052-35ECA35D-A02C-47AB-A1AB-C6800A5B088F

P698

Q28205052-6271A7CD-4881-4690-A6F1-08030B06FF2A

P3181

P356

P1433

Nature Reviews Genetics

P1476

Mechanisms and consequences of somatic mosaicism in humans

@en

P2093

Hagop Youssoufian

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

Reed E Pyeritz

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

P2860

The Bloom's syndrome gene product is homologous to RecQ helicases

AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation

Genetic instabilities in human cancers

Cancer predisposition caused by elevated mitotic recombination in Bloom mice

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis

The emerging genetic and molecular basis of Fanconi anaemia

Positional cloning of a novel Fanconi anemia gene, FANCD2

Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1

Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

P2888

P304

748-58

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

P31

scholarly article

P3181

855594

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

P356

10.1038/NRG906

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

P407

P433

10

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

P478

3

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

P577

2002-10-01T00:00:00Z

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

P6179

1006292268

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

P698

12360233

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