Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
about
Beyond the zebrafish: diverse fish species for modeling human diseaseQuantitative trait locus analysis of body shape divergence in nine-spined sticklebacks based on high-density SNP-panelLinking genes to diseases: it's all in the data.Early evolution of conserved regulatory sequences associated with development in vertebratesHuman intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentEvolutionary mutant models for human diseaseFunctional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.Structural and numerical changes of chromosome X in patients with esophageal atresiaThe homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass culturesImplications of human genome structural heterogeneity: functionally related genes tend to reside in organizationally similar genomic regions.Minor change, major difference: divergent functions of highly conserved cis-regulatory elements subsequent to whole genome duplication eventsAlternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expressionIdentification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Identification and characterization of lineage-specific highly conserved noncoding sequences in Mammalian genomes.Retroviral enhancer detection insertions in zebrafish combined with comparative genomics reveal genomic regulatory blocks - a fundamental feature of vertebrate genomes.Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.From remote enhancers to gene regulation: charting the genome's regulatory landscapes.SHOX at a glance: from gene to protein.A Track Record on SHOX: From Basic Research to Complex Models and TherapyEnhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.Height matters-from monogenic disorders to normal variation.High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.Eukaryotic enhancers: common features, regulation, and participation in diseases.Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.The seahorse genome and the evolution of its specialized morphology.FGFR3 is a target of the homeobox transcription factor SHOX in limb development.Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish.Enhancer elements upstream of the SHOX gene are active in the developing limbShadow enhancers: frequently asked questions about distributed cis-regulatory information and enhancer redundancy.SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Conserved non-coding elements: developmental gene regulation meets genome organization.Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
P2860
Q26853001-E97CB0D2-B508-41B2-A976-D6462B6F8D6EQ28602183-7F781F39-CBBC-4A64-BE77-A732E4A66F2CQ33493193-C39A0DC3-B455-40AB-8984-1C91D2C3AFD2Q33518467-CE35259D-4DA9-4161-89E6-C97AE769C24FQ33567281-DB64DBD4-C566-4367-BAB3-0EDCD36C6ABBQ33686021-E086C613-CF69-4734-85DB-B9A635A9F588Q33952515-63A4DAB1-1893-4C0E-B1F5-11F6A4EDA43AQ33958594-F1CA9ACA-9BA3-42D6-8026-DC4648958730Q34055731-775DA21D-34BE-47D3-9391-BC3A87EED6B9Q34428895-42476A81-7A2B-4140-81B7-82591D1D24D5Q34525787-FFA315E7-2483-4E9A-BA7A-EC07A9F079B2Q34558026-98B59286-7457-427F-A3F9-F1D85E665DA4Q34713071-C37AA562-922A-4EDE-BB10-AE0AD4947AADQ35591696-85CD2ECC-3F67-46C0-B22B-46F1E161E7D2Q36054040-410A2471-40A9-457F-905F-D6264E0908EBQ36187515-03AC7FD1-D75D-4789-9D8C-A9633104DF76Q36230662-8F49B7AB-65CB-4C61-9F29-9FC1FAD42D37Q36343359-4AE77BFA-7A66-4508-83A2-FC0E5D077BC7Q36774245-ACA653D9-CEED-4889-8C0E-B5C7B93C4BF1Q36929482-1713B143-4E6C-44C2-BFE4-E88AA196ADF1Q36964565-9A0DFB07-6545-492E-A10E-8ED7F2DAD303Q37147401-81366146-23F9-428E-8165-2483F62BB6F2Q37424584-52E9A054-5A72-49A7-A709-8791411F81A1Q37649511-F8F80BFF-5584-4A75-9E19-5005F069A77DQ37822860-295541ED-CBF6-4853-AC8A-C25241504DE3Q38075771-CED098E3-78F3-426B-A1CD-6DB857B21BC5Q38151946-274EFE67-4ACC-46FB-A4DA-5D1941751BC0Q38365224-E7EE61D1-5FFB-4B93-86D7-ECF7EF0A7DC5Q38948750-89C33E8E-0585-446C-85A6-1C69E2897922Q39181249-5B2BF56C-CC3B-4CDC-99DE-711D3AE659DFQ39601677-FB1A8750-DF74-4D77-887A-68E889D2A3C8Q39854835-7946AC3E-7D7F-46AC-B6DB-8DEE6FDDD046Q41718774-DCB98701-209B-4508-89F6-EE8FF4A9C365Q41736356-25EA0AB1-6BC4-40E0-9371-A8EF78345CB4Q42397517-6080B871-D8CB-4BFC-A959-9F1D1639BD92Q46616427-84C12A06-D5E6-4444-81DE-DB189E09C098Q46920483-0E7178A8-D46B-4279-8211-817B9F57606DQ47112088-E6BA7A84-A007-4C1C-BC53-A436FEC204DEQ47332536-A166EE61-822A-4054-9131-E302FA93BBD0Q50527588-4983FACE-FE80-4832-9FF1-81E34739A13D
P2860
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Long-range conserved non-codin ...... phenotypes in human patients.
@en
Long-range conserved non-codin ...... phenotypes in human patients.
@nl
type
label
Long-range conserved non-codin ...... phenotypes in human patients.
@en
Long-range conserved non-codin ...... phenotypes in human patients.
@nl
prefLabel
Long-range conserved non-codin ...... phenotypes in human patients.
@en
Long-range conserved non-codin ...... phenotypes in human patients.
@nl
P2093
P356
P1476
Long-range conserved non-codin ...... phenotypes in human patients.
@en
P2093
Berthold P Hauffa
Birgit Weiss
Christiane Spaich
Eva Tiecke
Fiona Bangs
Georg K Hinkel
Gudrun Rappold
Hetty van der Kamp
Johannes Kapeller
Karin Jantz
P304
P356
10.1093/HMG/DDL470
P577
2007-01-02T00:00:00Z