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

被引：0

作者：

Sabina Benko

Judy A Fantes

Jeanne Amiel

Dirk-Jan Kleinjan

Sophie Thomas

Jacqueline Ramsay

Negar Jamshidi

Abdelkader Essafi

Simon Heaney

Christopher T Gordon

David McBride

Christelle Golzio

Malcolm Fisher

Paul Perry

Véronique Abadie

Carmen Ayuso

Muriel Holder-Espinasse

Nicky Kilpatrick

Melissa M Lees

Arnaud Picard

I Karen Temple

Paul Thomas

Marie-Paule Vazquez

Michel Vekemans

Hugues Roest Crollius

Nicholas D Hastie

Arnold Munnich

Heather C Etchevers

Anna Pelet

Peter G Farlie

David R FitzPatrick

Stanislas Lyonnet

机构：

[1] INSERM U-781,Département de Génétique

[2] Hôpital Necker–Enfants Malades,Division of Human Genetics

[3] Medical Research Council Human Genetics Unit (MRC HGU),Department of Biology

[4] Institute of Genetic and Molecular Medicine,undefined

[5] Assistance Publique–Hôpitaux de Paris (AP-HP),undefined

[6] Hôpital Necker–Enfants Malades,undefined

[7] Paris,undefined

[8] France.,undefined

[9] Murdoch Children's Research Institute,undefined

[10] Royal Children's Hospital,undefined

[11] Université Paris Descartes,undefined

[12] Faculté de Médecine,undefined

[13] AP-HP,undefined

[14] Service de Pédiatrie,undefined

[15] Hôpital Necker–Enfants Malades,undefined

[16] Fundación Jiménez Díaz,undefined

[17] Genética,undefined

[18] CHRU de Lille,undefined

[19] Hôpital Jeanne de Flandre,undefined

[20] North Thames Regional Genetics Service,undefined

[21] Great Ormond Street Hospital,undefined

[22] AP-HP,undefined

[23] Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique,undefined

[24] Hôpital d'Enfants Armand Trousseau,undefined

[25] Université Pierre et Marie Curie–Paris 6,undefined

[26] UFR de Médecine Pierre et Marie Curie,undefined

[27] Wessex Clinical Genetics Academic Group,undefined

[28] University of Southampton,undefined

[29] École Normale Supérieure,undefined

[30] CNRS,undefined

来源：

Nature Genetics | 2009年 / 41卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Stanislas Lyonnet and colleagues report a new locus associated with Pierre Robin sequence, an important subgroup of cleft palate. They find that translocations, deletions and point mutation affecting highly conserved noncoding elements (HCNEs) found at distances on either side of SOX9 are associated with PRS.

引用

页码：359 / 364

页数：5

共 29 条

[21] RETRACTED: Long non-coding RNA SNHG14 contributes to gastric cancer development through targeting miR-145/SOX9 axis (Retracted Article)
Liu, Zhao
Yan, Yan
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Chen, Yi
JOURNAL OF CELLULAR BIOCHEMISTRY, 2018, 119 (08) : 6905 - 6913
[22] Variability in a Three-Generation Family with Pierre Robin Sequence, Acampomelic Campomelic Dysplasia, and Intellectual Disability Due to a Novel ∼1 Mb Deletion Upstream of SOX9, and Including KCNJ2 and KCNJ16
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[23] RETRACTED: Long Non-Coding RNA LINC01089 Enhances the Development of Gastric Cancer by Sponging miR-145-5p to Mediate SOX9 Expression (Retracted Article)
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ONCOTARGETS AND THERAPY, 2020, 13 : 9213 - 9224
[24] A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human
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[25] Long non-coding RNA GAS6-AS1 enhances breast cancer cell aggressiveness by functioning as a competing endogenous RNA of microRNA-215-5p to enhance SOX9 expression
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[26] RETRACTED: Long Non-Coding RNA LEF1-AS1 Promotes Migration, Invasion and Metastasis of Colon Cancer Cells Through miR-30-5p/SOX9 Axis (Retracted Article)
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[27] RETRACTION: Long Non-Coding RNA LINC01089 Enhances the Development of Gastric Cancer by Sponging miR-145-5p to Mediate SOX9 Expression (Retraction of Vol 13, Pg 9213, 2020)
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[28] Long non-coding RNA PVT1 contributes to cell growth and metastasis in non-small-cell lung cancer by regulating miR-361-3p/SOX9 axis and activating Wnt/β-catenin signaling pathway
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[29] RETRACTION: Long Non-Coding RNA LEF1-AS1 Promotes Migration, Invasion and Metastasis of Colon Cancer Cells Through miR-30-5p/SOX9 Axis (Retraction of Vol 13, Pg 2957, 2020)
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