Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence - Wikidata - wikimedia - TriplyDB

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

http://www.wikidata.org/entity/Q28235961

about

DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2 Epidemiology, Etiology, and Treatment of Isolated Cleft Palate Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Transcriptional enhancers: functional insights and role in human disease Variation in vertebrate cis-regulatory elements in evolution and disease Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study Role of SOX9 in the Etiology of Pierre-Robin Syndrome Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25 Prdm16 is required for normal palatogenesis in mice.Divergent evolutionary rates in vertebrate and mammalian specific conserved non-coding elements (CNEs) in echolocating mammals Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.Comparative genomics-based identification and analysis of cis-regulatory elements Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis.A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.BMPR1B mutation causes Pierre Robin sequence Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus.Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences.Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Regulation of sex determination in mice by a non-coding genomic region.Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.Analysis of early human neural crest development.Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor.SOX9 regulates multiple genes in chondrocytes, including genes encoding ECM proteins, ECM modification enzymes, receptors, and transporters.Role of canonical Wnt signaling/ß-catenin via Dermo1 in cranial dermal cell development.Phenotypic impact of genomic structural variation: insights from and for human disease.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

P2860

Q24657535-B45CF404-620B-4F1C-B2C2-18459EEDB9AE Q26765978-2B77B44B-A646-4AAA-9F99-801C309ED0BC Q26770859-5FE7686A-D744-4458-91AA-D8FBA890FD8B Q26782507-1934F074-59DC-409C-A951-D71993CD14A3 Q26851780-845B04E6-F6DC-4761-9A1C-835234752A63 Q28067751-435B2A4B-D5EF-4D8C-AB33-AA7B72E6AFCE Q28255108-265F4095-7B23-4A3C-9E90-8982647D47EC Q28293925-7D4A7829-407F-41FF-9ABC-38098E7E75C3 Q28507447-035743AF-7F58-4578-9796-A5BCF033C442 Q28588157-075ECB62-2A09-40E7-95D6-2ECFAE513D32 Q28651719-E097DAD9-8416-4879-8FDD-6E101616CC0C Q30412604-8EA2333F-8C1C-4154-8128-53867CE8666A Q30414880-18645E33-2A17-4D0B-ABD6-B87364A69BA4 Q30467373-1E770339-9644-4BAF-B1CE-FFD139BA430B Q30470799-F29FB08B-F89C-41D2-95BA-2CD8166EF49A Q30472505-64784364-253C-4EA0-884A-C4B8ED4F7FA6 Q30828534-EC60EAD8-15A5-48B8-8316-72D49A397D22 Q31151570-08225C32-C40B-4127-AC31-4379AB4CBAD2 Q31155280-24D6E614-8796-474C-B22D-BF878AFB80F5 Q33471397-BEB5A918-5FDE-49BE-8AD6-9E44560C4B31 Q33518475-D682F05C-8094-4A08-B2A8-7852917FAD27 Q33535894-C6363C54-ABAB-462B-B42B-0FC83DE84B71 Q33631309-7DA6C64E-7ED7-4BD9-BAF8-0C613BDE9260 Q33680682-D29668B7-6875-40ED-A9F0-65DA2040F459 Q33688452-A22AA7A7-3C6E-4254-A759-A5743D809825 Q33698461-F52C35F9-4B98-4255-91DA-79EC4CF9B785 Q33784627-638131AC-0B07-4582-91EB-749407839B84 Q33785737-2E203498-0776-4F4E-91E1-1F4D51135324 Q33847675-8EDAAB0D-85E6-4F58-BCA0-23D608EB3D71 Q33847708-6BA7A485-66D2-469E-A170-F83B9213B68A Q33895053-6FD06D2C-5F3E-458D-886A-305FDBB93D81 Q33952379-E62C908F-87B5-418E-90E9-66EB5A965714 Q34080990-0028D8A9-587F-4BBA-839B-13A4EE4EED80 Q34118780-182DFADB-C527-4C00-814C-A7D4D7C45FCF Q34172336-32895327-B773-483B-B8B3-AD87D8E21BE9 Q34207443-964A27D9-92E4-4A0A-AA13-F229A72766DD Q34290550-8E5EBAA5-7FB4-4E85-8DE2-FBDEA84D8580 Q34323221-6FCD4144-6540-4B4E-9F64-C5D23A1375B4 Q34327369-7AB145D4-C615-4ED4-810B-B5D3BADB52A2 Q34328787-0F159DAD-79FF-4A71-A918-D63DF6F17A70

P2860

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

http://www.wikidata.org/entity/Q28235961

description

2009 nî lūn-bûn

@nan

2009 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի մարտին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@ast

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@en

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@nl

type

label

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@ast

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@en

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@nl

prefLabel

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@ast

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@en

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@nl

P1433

Q28235961-3EEF74A3-0800-48D2-90CF-21E6AD6A8ED4

P1476

Q28235961-1F0CB98D-9366-41AF-B514-EBC7293E3A5B

P2093

Q28235961-098FCBB8-23D5-44FA-B674-2BEBC42CC57B

Q28235961-0C2DB988-DA05-405D-9908-3949D6FEB337

Q28235961-202D5BA8-A786-4048-B04F-7D43A47C22CC

Q28235961-21D0274C-57D2-4A80-9E35-3404F9556621

Q28235961-33A87A88-142E-4E5F-9A9C-583C54554F23

Q28235961-860E98E0-58A1-4359-B53A-729DB5EB9EBD

Q28235961-9E34CD83-A00C-46FA-AFEF-5186F43F67CB

Q28235961-A7B53428-B9BD-490B-9AFD-82C2421D15A5

Q28235961-B196CE0A-47FF-4C7F-9991-166BE3981DDB

Q28235961-BBD9A2B9-8231-40A2-9ED2-C799F31CBECF

P2860

Q28235961-01F78EBB-9EF9-496E-90D3-97053ABC5AC4

Q28235961-06F0473C-D45D-4E1D-A380-25F819C7F775

Q28235961-09A60219-A4B3-4B28-943B-415C7F247C98

Q28235961-1218C4DF-EEF8-46CD-8954-CF1D07BC15DF

Q28235961-132DFEBF-76AC-4DE8-906A-29A716C65DC1

Q28235961-1DD52307-5BF4-450D-AA14-C38196794E37

Q28235961-25D1C838-16F1-4A5E-9A31-B749C8E51404

Q28235961-2761B967-3DBF-45DE-8331-82420565444A

Q28235961-2E9B4DF1-199E-4BCC-9260-337BB9FAB294

Q28235961-2FA8F916-60B2-4E15-A53C-F7379AE4D546

P2888

Q28235961-879A2425-20AD-475A-B4F4-06616546033E

P304

Q28235961-576C73A5-36EC-4CEB-9442-32819D22F1D1

P31

Q28235961-6AD1548A-6C54-497C-BE31-DDCF5A9BE0A4

P3181

Q28235961-5A8F1326-A447-46AF-9ED5-9FC5E2623D44

P356

Q28235961-4F79B3D1-BE60-4788-B70C-D1CB5F7B1D6C

P407

Q28235961-7D69F10B-462F-4929-9F17-3B048B5DE337

P433

Q28235961-419E810A-B026-4414-B01D-2188E188CBED

P478

Q28235961-9C680BE8-9CE4-4580-B74D-216F23A3BCFD

P50

Q28235961-1ADDEA36-0A25-4139-9386-F06269D907F5

Q28235961-5A3D4364-51EE-4750-933D-38C5826E2509

Q28235961-8FECF77E-B365-457E-9FE8-D01AEEE4A636

Q28235961-A78E98BD-E0CA-474E-AF6A-8A1232E8A6E3

Q28235961-AEC1D939-1B50-4212-A55B-9B62E98E07F0

Q28235961-B412EC0B-480D-4461-9EB2-6C4304AF85AA

Q28235961-C28680FA-C61D-4F76-8D93-5A0D524F2000

Q28235961-CD30C81F-740A-4064-855C-5EBF73760D52

Q28235961-D53B9C68-E81E-4163-A9AD-EADB0EF44995

Q28235961-E97EEC12-BBFD-44F2-A63B-46C827DBDA28

P577

Q28235961-7D98C902-23F4-452F-BCF9-071CC23AD026

P5875

Q28235961-BDBF576A-428A-4678-B952-2809B6AAC0F6

P698

Q28235961-A561894C-D3B4-400E-8538-F62444F5239B

P3181

P356

P1433

Nature Genetics

P1476

Highly conserved non-coding el ...... ted with Pierre Robin sequence

@en

P2093

Abdelkader Essafi

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

Arnaud Picard

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

Arnold Munnich

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

David McBride

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

Dirk-Jan Kleinjan

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

Jacqueline Ramsay

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

Judy A Fantes

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

Marie-Paule Vazquez

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

Melissa M Lees

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

Michel Vekemans

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

P2860

Highly conserved non-coding sequences are associated with vertebrate development

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

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Sox9 is required for cartilage formation

Optical projection tomography as a tool for 3D microscopy and gene expression studies

Gene expression in pharyngeal arch 1 during human embryonic development.

Interactions between Sox9 and beta-catenin control chondrocyte differentiation.

Long-range control of gene expression: emerging mechanisms and disruption in disease.

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

P2888

P304

359-364

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

P31

scholarly article

P3181

3229501

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

P356

10.1038/NG.329

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

P407

P433

3

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

P478

41

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

P50

Christopher T Gordon

David R. FitzPatrick

Christelle Golzio

Malcolm E Fisher

Heather Etchevers

Hugues Roest Crollius

P577

2009-02-22T00:00:00Z

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

P5875

24032257

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

P698

19234473

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