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：

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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

[1] Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Benko, Sabina
Fantes, Judy A.
Amiel, Jeanne
Kleinjan, Dirk-Jan
Thomas, Sophie
Ramsay, Jacqueline
Jamshidi, Negar
Essafi, Abdelkader
Heaney, Simon
Gordon, Christopher T.
McBride, David
Golzio, Christelle
Fisher, Malcolm
Perry, Paul
Abadie, Veronique
Ayuso, Carmen
Holder-Espinasse, Muriel
Kilpatrick, Nicky
Lees, Melissa M.
Picard, Arnaud
Temple, I. Karen
Thomas, Paul
Vazquez, Marie-Paule
Vekemans, Michel
Roest Crollius, Hugues
Hastie, Nicholas D.
Munnich, Arnold
Etchevers, Heather C.
Pelet, Anna
Farlie, Peter G.
FitzPatrick, David R.
Lyonnet, Stanislas
NATURE GENETICS, 2009, 41 (03) : 359 - 364
[2] The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
Al-Qattan, Mohammad M.
Almohrij, Saad A.
PLASTIC AND RECONSTRUCTIVE SURGERY-GLOBAL OPEN, 2022, 10 (04) : E4241
[3] Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
Jakobsen, Linda P.
Ullmann, Reinhard
Christensen, Steen B.
Jensen, Karl Erik
Molsted, Kirsten
Henriksen, Karen F.
Hansen, Claus
Knudsen, Mary A.
Larsen, Lars A.
Tommerup, Niels
Tumer, Zeynep
JOURNAL OF MEDICAL GENETICS, 2007, 44 (06) : 381 - 386
[4] Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
Fukami, Maki
Tsuchiya, Takayoshi
Takada, Shuji
Kanbara, Akiko
Asahara, Hiroshi
Igarashi, Arisa
Kamiyama, Yasunori
Nishimura, Gen
Ogata, Tsutomu
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) : 1529 - 1534
[5] Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence
Gordon, Christopher T.
Attanasio, Catia
Bhatia, Shipra
Benko, Sabina
Ansari, Morad
Tan, Tiong Y.
Munnich, Arnold
Pennacchio, Len A.
Abadie, Veronique
Temple, I. Karen
Goldenberg, Alice
van Heyningen, Veronica
Amiel, Jeanne
FitzPatrick, David
Kleinjan, Dirk A.
Visel, Axel
Lyonnet, Stanislas
HUMAN MUTATION, 2014, 35 (08) : 1011 - 1020
[6] Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect
Amarillo, Ina E.
Dipple, Katrina M.
Quintero-Rivera, Fabiola
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (05) : 1167 - 1172
[7] Highly conserved non-coding sequences are associated with vertebrate development
Woolfe, A
Goodson, M
Goode, DK
Snell, P
McEwen, GK
Vavouri, T
Smith, SF
North, P
Callaway, H
Kelly, K
Walter, K
Abnizova, I
Gilks, W
Edwards, YJK
Cooke, JE
Elgar, G
PLOS BIOLOGY, 2005, 3 (01) : 116 - 130
[8] Microdeletion of 17q24.3 Detected by Chromosome Microarray Analysis Is Associated with Pierre Robin Sequence due to Position Effect on SOX9
Amarillo, I. E.
Dipple, K.
Quintero-Rivera, F.
CYTOGENETIC AND GENOME RESEARCH, 2012, 136 (04) : 341 - 341
[9] CONDOR: a database resource of developmentally associated conserved non-coding elements
Woolfe, Adam
Goode, Debbie K.
Cooke, Julie
Callaway, Heather
Smith, Sarah
Snell, Phil
McEwen, Gayle K.
Elgar, Greg
BMC DEVELOPMENTAL BIOLOGY, 2007, 7
[10] DISRUPTION OF HIGHLY CONSERVED NON-CODING DNA ELEMENTS IN CONGENITAL HEART DEFECTS
Krantz, I. D.
Francey, L.
Holst, J.
Conlin, L.
Spinner, N.
Juhr, D.
Gruber, P. J.
PEDIATRIC RESEARCH, 2010, 68 : 151 - 151

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