The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. - Wikidata - awgldk - TriplyDB

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

http://www.wikidata.org/entity/Q33904580

about

New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements Chromosomal translocations and palindromic AT-rich repeats Snaps and mends: DNA breaks and chromosomal translocations Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.Palindrome-mediated chromosomal translocations in humans.Delineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping.The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Paternal origin of the de novo constitutional t(11;22)(q23;q11).Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.A novel recombination pathway initiated by the Mre11/Rad50/Nbs1 complex eliminates palindromes during meiosis in Schizosaccharomyces pombe.Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.Genome-wide screen reveals replication pathway for quasi-palindrome fragility dependent on homologous recombination.DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.The genetics of microdeletion and microduplication syndromes: an update.An assessment of the sequence gaps: unfinished business in a finished human genome.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.DNA palindromes with a modest arm length of greater, similar 20 base pairs are a significant target for recombinant adeno-associated virus vector integration in the liver, muscles, and heart in mice.Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Rapid, stabilizing palindrome rearrangements in somatic cells by the center-break mechanism.Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.Segmental duplications flank the multiple sclerosis locus on chromosome 17q.Segmental duplications and evolutionary plasticity at tumor chromosome break-prone regions.Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.Decoding NF1 Intragenic Copy-Number Variations.

P2860

Q24810641-AA8F6D63-133F-49F4-9276-A8D2CC37BC26 Q26741394-D15A7B99-3D40-49C0-8AEC-05E9CBE724AC Q27024347-0CC09B25-BD7F-402C-B121-D016C27BB22C Q28082525-1147AD02-D13F-4BF0-B144-F350564A86A1 Q28290365-0A58CAF3-DC81-4F9C-9763-38C7ED75BDFB Q33209577-101D3A6A-89FD-499A-9969-349C47C79A8C Q33277820-A7B1C475-BBB8-41B4-95F7-259456EDD7CB Q33608638-4CD3DD64-3B2F-4B71-9474-47E25FA6AC3D Q33608641-9A7900BD-8EA0-440D-8BE8-DCCDDA0E5522 Q33622853-8B17047C-7575-4B8F-8A6D-505D6A665706 Q33638175-7E75F5B6-BD50-4A83-8FA3-7FD6966A61A3 Q33668703-D9543375-D93B-4ED1-9721-279896B43204 Q33870690-819DC813-6F46-4A9B-A5D9-536F9BE03478 Q33909470-2A339D15-D425-42C1-9B67-43B599B0EED9 Q33915581-84AE46C5-F326-4451-B1C9-BDC722B2782F Q34046894-C518D119-455F-428A-9763-1B8732E4B102 Q34050961-A076EE11-3C5B-4202-B683-97BFB64563C5 Q34137518-86B967CA-FCA4-4EEB-B37B-D4E4CF163072 Q34329295-0BC729DA-AEBC-4616-9FA9-1CAFF0BF51A3 Q34332380-66614E0C-79F1-4641-BA0A-F79FAD06ABE3 Q34333357-3FEE30D1-C32D-45F2-B1CC-1868131C936B Q34572551-5786173D-B951-4F65-832E-9C99D3C21E11 Q34631531-7963DCBD-ACDE-446F-9B0D-3EA83D833D84 Q35067254-9C03A986-1EEF-4413-963A-8ED4336B3F3F Q35398079-07FD503E-0D5B-4207-BC8D-160815D00AFA Q35749729-2AB6B337-9C5F-4D11-AB36-5D5837D3BEC7 Q35765523-257E4349-7B80-4313-AAE3-E65A87001241 Q35773253-5B252CC2-DD16-4A86-BD2A-C51417C91E0A Q35793506-C6C0DB64-8AD5-4EA6-A9B5-3157FAD81282 Q35913621-463FB80B-1DB0-48AA-BA54-4DD94AF3AA64 Q36099246-D687C7DD-CB84-4FBF-9D37-CD2CBE484425 Q36666968-1C6D3B5F-60D6-42E9-8897-20D78D5B7CAF Q37062358-BBB519C2-4F87-497A-A8FE-3F693F1499FF Q37076289-7946F01D-14B5-496F-971A-33E876E17B87 Q37286048-B4B260E0-F1A6-47D5-AF8E-FDFAB6AF05D9 Q37312490-A3272B7B-15C8-4B2A-9CFC-0546B773B50F Q37389094-4AE6294F-2A0E-4318-8C97-1CF8D62689B0 Q40019147-B8683594-F722-444E-B911-DDA9E1330745 Q40382137-C4C0968B-3F50-4183-BFA0-11CEF2CAC221 Q41908846-3D7132C9-3A4A-48E7-B4DE-EC635EDD2F1D

P2860

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

http://www.wikidata.org/entity/Q33904580

description

2003 nî lūn-bûn

@nan

2003 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@ast

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@en

type

label

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@ast

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@en

prefLabel

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@ast

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@en

P1433

Q33904580-268622F2-2434-48D6-B92B-4CBC71C875A0

P1476

Q33904580-A025B267-9B5E-4E25-9F77-91B20EF542C0

P2093

Q33904580-157CAD27-5C50-463C-AA86-20C14000C084

Q33904580-2B253583-EC7C-48CE-A844-2493FC2E4D59

Q33904580-7F3BF476-635C-4AD6-875A-CA95BA5C80DE

Q33904580-CDD248BD-3338-4DB6-A498-A7584ED32993

Q33904580-F7E01392-04FD-465C-B0B5-E58D0AC12354

P2860

Q33904580-0ACACA56-5A3F-46CC-9321-72849BF7F6A3

Q33904580-13563E37-2A90-488E-8F21-788FC4CC4430

Q33904580-152206AA-F5B0-49FE-A645-31C4B5FB4885

Q33904580-1C83558C-D939-456E-ABE2-D80E4FC1C4C8

Q33904580-1DF56E79-FD39-44FD-B163-2CC72655005C

Q33904580-59BF41A4-FAD1-49B1-8166-F3368F82A624

Q33904580-5D1F9CDE-CF28-4E35-8E61-B9F98D1379E2

Q33904580-62341C8F-D884-4D65-A2C8-0313C53FACC5

Q33904580-66DAF4F0-B6CA-40D0-920D-C623A7F32442

Q33904580-7DAA3DB2-C3F9-494A-9D54-DD77B1CF15DF

P304

Q33904580-2451329E-6563-4E1E-9286-160641653D17

P31

Q33904580-07D9D849-D8AD-48C6-A96C-8755543DDD2D

Q33904580-cb5548a4-1e24-4b91-960c-e7b588860f05

P356

Q33904580-9B7091D5-17A5-4E64-9EF2-2434769A6FE7

P407

Q33904580-FD35805F-5398-40FF-82E2-B3DAA4BE90DB

P433

Q33904580-C2D7E9F6-CE5E-431A-AB38-9859A1660103

P478

Q33904580-34FDF316-1443-441D-9FFF-26CAFD4C663C

P577

Q33904580-437A0B1F-F3F9-433C-8883-F24925F566EE

P5875

Q33904580-3C18A356-1E5F-4366-8B5B-71034174BBC9

P698

Q33904580-3A8EA045-ED4C-4D2F-8987-BD81F6631FAC

P932

Q33904580-2FE75538-E873-47FF-9BD2-ADCBE70D15A8

P356

P1433

American Journal of Human Genetics

P1476

The constitutional t(17;22): a ...... y palindromic AT-rich repeats.

@en

P2093

Beverly S Emanuel

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

Hiroki Kurahashi

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

Masayuki Takata

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

Tamim Shaikh

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

Tatsushi Toda

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

P2860

The DNA sequence of human chromosome 22

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

AT-rich palindromes mediate the constitutional t(11;22) translocation.

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

Inverted Alu repeats unstable in yeast are excluded from the human genome.

Precise localization of NF1 to 17q11.2 by balanced translocation

P304

733-738

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

P31

scholarly article

P356

10.1086/368062

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

P407

P433

3

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

P478

72

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

P577

2003-01-29T00:00:00Z

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

P5875

10926619

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

P698

12557125

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

P932

1180249

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