Chromosome 21 and down syndrome: from genomics to pathophysiology - Wikidata - wikimedia - TriplyDB

Chromosome 21 and down syndrome: from genomics to pathophysiology

Chromosome 21 and down syndrome: from genomics to pathophysiology

http://www.wikidata.org/entity/Q28290257

about

Alzheimer's disease amyloid-beta links lens and brain pathology in Down syndrome Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease Down syndrome: searching for the genetic culprits Emerging pharmacotherapies for neurodevelopmental disorders Disease-specific induced pluripotent stem cells Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome Aneuploidy in stem cells Sumoylation in Synaptic Function and Dysfunction Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders Genetics of congenital heart disease: the glass half empty Dendritic spine dysgenesis in autism related disorders Aneuploidy causes premature differentiation of neural and intestinal stem cells Two kinds of common prenatal screening tests for Down's syndrome: a systematic review and meta-analysis Down Syndrome: Current Status, Challenges and Future Perspectives Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Low bone turnover and low BMD in Down syndrome: effect of intermittent PTH treatment Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2 Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus General intelligence is associated with subclinical inflammation in Nepalese children: A population-based plasma proteomics study.A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions.Visualization of repetitive DNA sequences in human chromosomes with transcription activator-like effectors.A role for sorting nexin 27 in AMPA receptor trafficking.Genetic dissection of the Down syndrome critical region.Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.Understanding the basis for Down syndrome phenotypes.An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model.NF-kappaB-inducing kinase phosphorylates and blocks the degradation of Down syndrome candidate region 1.Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model Lowering beta-amyloid levels rescues learning and memory in a Down syndrome mouse model.Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome.Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes Ohnologs in the human genome are dosage balanced and frequently associated with disease.

P2860

Q21136371-E8A3BF43-5F5C-484D-8B7A-2640D9A8B82C Q22241147-ABCFDA09-52F5-443B-8E7D-EEC9BBAF49AE Q22241596-FA9877FB-9CAE-467D-BA2E-39FD651E029F Q24619170-BF9E59DC-8206-4910-A771-89237ECC0B1E Q24641981-62E7D543-47A6-40ED-B65C-8E0100E62006 Q24678210-E6FE0B97-FBC6-44BB-84CE-E8F3F2395439 Q26745413-31E7F717-45A5-4837-9E56-38FA0A988343 Q26746154-BBB3B54B-93FE-4CA2-9CF3-3F097169D75E Q26747536-F22A793D-0EE1-4885-82B5-31C8556BF488 Q26799570-923EAD69-9AE1-4034-87BE-257AE39AB14C Q26853035-3F7456D9-4D98-4570-96CC-7F1AD7847C24 Q26862793-617B9E68-C900-4D7A-9BF9-ECB939DC45FB Q26995242-AB50436C-2ACF-4FBB-BAE8-7518A5E615CE Q27318211-D407DF7E-D825-4358-98D0-C9222DADB83D Q28077443-4F3D9A02-FF07-41F8-9FD8-54D419402A92 Q28079334-8B6B003F-0032-4132-8E29-290EE05CBA54 Q28306227-AFD633AF-4768-4ACC-841F-C4E15CD39850 Q28482257-C9A3F8ED-F05C-46FD-8AB0-1D802C0B66FD Q28543589-351BD691-B605-4E44-8B2A-43A865E29244 Q28578459-7278A985-8976-404D-920F-258A8725237D Q28590144-439EA93A-B56B-4A15-904E-AF45DF12FC34 Q28740285-A929EF18-B82A-4B79-9137-EC8464F61672 Q30382506-EE402D22-60B2-493A-A834-2A01EF7CC7AF Q30495192-AA20311C-37AF-43EB-B3CC-A438FD6CBE8A Q30560977-0F1EC28D-359A-491F-A7B2-6420661FE843 Q30571548-8A362E9D-4B74-443F-BACB-39FAF77821B2 Q30670043-3FD7D797-4FBB-44B3-90D1-C5ECFFAE57DF Q31008411-9F3B3E84-D203-4545-BD7A-81C516530068 Q33238943-5C19760E-6EEE-4124-8581-DAA96C4DD5F1 Q33307796-F8F80915-F2FA-4AF0-ACD1-795C5A1BB261 Q33308479-C66CB9FB-2053-495E-9584-F97F887BCE74 Q33424071-3A458438-FBAD-44B8-8D39-3FAEE44529E7 Q33452667-52F78C45-E922-4318-8F0A-7B8B24C5AC09 Q33525022-89401610-1C03-4D67-ADFD-1B91464AEB2A Q33552991-EC9CB391-1D70-47A7-804E-D7E9B5BE76A1 Q33598454-8963DAD0-99DC-4D27-B563-B64A74D66964 Q33783876-ABFCB34B-BEF6-462A-A78A-594E930591D3 Q33788720-9A3C4830-8739-422F-906E-5DDDBB9AA2AA Q33898516-4009C631-53C0-4F15-ABBF-3BFF4568F39B Q33927314-FB88662D-6676-4D71-835E-4B4D4362A401

P2860

Chromosome 21 and down syndrome: from genomics to pathophysiology

http://www.wikidata.org/entity/Q28290257

description

2004 nî lūn-bûn

@nan

2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Chromosome 21 and down syndrome: from genomics to pathophysiology

@ast

Chromosome 21 and down syndrome: from genomics to pathophysiology

@en

Chromosome 21 and down syndrome: from genomics to pathophysiology

@nl

type

label

Chromosome 21 and down syndrome: from genomics to pathophysiology

@ast

Chromosome 21 and down syndrome: from genomics to pathophysiology

@en

Chromosome 21 and down syndrome: from genomics to pathophysiology

@nl

prefLabel

Chromosome 21 and down syndrome: from genomics to pathophysiology

@ast

Chromosome 21 and down syndrome: from genomics to pathophysiology

@en

Chromosome 21 and down syndrome: from genomics to pathophysiology

@nl

P1433

Q28290257-B9DAB62B-8536-47E1-8135-C18FE296A433

P1476

Q28290257-FF392A0C-AFA8-4260-A86B-58959FCFB865

P2093

Q28290257-7FD90BB8-2E9A-429D-B062-7E9CBAA71797

Q28290257-CC795894-F255-4B08-9098-2F57EA19F6E4

Q28290257-FB7821D9-98A8-478D-A5F0-582D992CA659

P2860

Q28290257-088C60F1-97ED-4442-AF53-41619281764C

Q28290257-0C5531A3-8D21-443B-8939-54F228C5E8CC

Q28290257-1DA2F7BB-31D3-451E-A6CD-43CA9610AE8D

Q28290257-1F1C6AED-2DD4-45AA-8AA1-940A92F0C40B

Q28290257-225C6510-4F1D-42B7-80A8-A4D885A47FCC

Q28290257-253FA425-7A3A-41DE-BAA6-5903D487DCB2

Q28290257-25A62E48-467A-4A23-9EB8-EF43F49991EA

Q28290257-2654D087-BDC3-4807-A9FC-A87FA534B20D

Q28290257-2B054647-2818-47BF-A772-6E93DE151BDC

Q28290257-2E76825D-4187-4072-9357-224E166B26D3

P2888

Q28290257-E33F7EBB-9747-4CFD-9477-4D4DC2C98708

P304

Q28290257-EDE01623-109D-4889-9B46-1B78C5A10397

P31

Q28290257-1F0986A0-E778-4900-9210-B972110131EA

P3181

Q28290257-9514969F-67ED-4D4E-895A-0660C0C62D2C

P356

Q28290257-833DE0E4-3AC0-475F-8833-4E9BC79870AA

P407

Q28290257-1562D08A-CD7F-4CCF-88CF-5D2C592F1416

P433

Q28290257-F3B2419B-36A5-4D9F-A8AF-203255D4D3A9

P478

Q28290257-628AF7AA-CC47-40CD-8718-0CBA0C2A7700

P50

Q28290257-0C237547-3153-489A-B3E1-A7FA6ACD1240

Q28290257-B883F96D-1D8C-48B3-A4EC-1F1EBD6F3CBE

P577

Q28290257-AD4D2642-C994-4A92-A31A-29A04DD66FEB

P6179

Q28290257-DC9F4781-9BBA-4264-BA2E-E29AA1EE75C1

P698

Q28290257-6B42C808-9442-4A42-8428-06D6D7B72888

P921

Q28290257-D92D9823-16D1-47E1-B941-AC79183FA117

P3181

P356

P1433

Nature Reviews Genetics

P1476

Chromosome 21 and down syndrome: from genomics to pathophysiology

@en

P2093

Emmanouil T Dermitzakis

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

Robert Lyle

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

Samuel Deutsch

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

P2860

Initial sequencing and analysis of the human genome

The sequence of human chromosome 21 and implications for research into Down syndrome

Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22

The Sequence of the Human Genome

Initial sequencing and comparative analysis of the mouse genome

Transformation of axial skeleton due to overexpression of bmi-1 in transgenic mice

Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22

The DNA sequence of human chromosome 21

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

P2888

P304

725-38

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

P31

scholarly article

P3181

971889

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

P356

10.1038/NRG1448

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

P407

P433

10

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

P478

5

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

P50

Stylianos Antonarakis

Alexandre Reymond

P577

2004-10-01T00:00:00Z

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

P6179

1043277982

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

P698

15510164

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

P921

pathophysiology