Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome

被引：0

作者：

Cuvertino, S. ^{[1
]}

Stuart, H. ^{[1
,2
]}

Chandler, K. E. ^{[2
]}

Roberts, N. A. ^{[1
]}

Armstrong, R. ^{[3
]}

Bernardini, L. ^{[4
]}

Bhaskar, S. ^{[2
]}

Callewaert, B. ^{[5
]}

Clayton-Smith, J. ^{[1
,2
]}

Davalillo, C. H. ^{[6
]}

Deshpande, C. ^{[7
]}

Devriendt, K. ^{[8
,9
]}

Digilio, M. C. ^{[10
]}

Dixit, A. ^{[11
]}

Edwards, M. ^{[12
]}

Friedman, J. M. ^{[13
]}

Joss, S. ^{[14
]}

Kerr, B. ^{[2
]}

Lampe, A. K. ^{[15
]}

McGowan, R. ^{[14
]}

Medt, M. D. ^{[8
,9
]}

O'Sullivan, J. ^{[2
]}

Odent, S. ^{[16
]}

Parker, M. J. ^{[17
]}

Pebrel-Richard, C. ^{[18
]}

Petit, F. ^{[19
]}

Stark, Z. ^{[20
]}

Tinschert, S. ^{[21
]}

Vasudevan, P. ^{[22
]}

Villa, O. ^{[6
]}

White, M. ^{[20
,23
]}

Zahir, F. ^{[13
,24
]}

Lennon, R. ^{[1
]}

Woolf, A. S. ^{[1
]}

Banka, S. ^{[1
,2
]}

机构：

[1] Univ Manchester, Manchester, Lancs, England

[2] St Marys Hosp, Manchester, Lancs, England

[3] Addenbrookes Hosp, Cambridge, England

[4] Mendel Lab, Rome, Italy

[5] Ghent Univ Hosp, Ghent, Belgium

[6] Quantitat Genom Med Labs, Barcelona, Spain

[7] Guys Hosp, London, England

[8] Katholieke Univ Leuven, Leuven, Belgium

[9] Univ Hosp Leuven, Leuven, Belgium

[10] IRCCS Osped Pediat Bambino Gesu, Rome, Italy

[11] Nottingham City Hosp, Nottingham, England

[12] Univ Western Sydney, Sydney, NSW, Australia

[13] Univ British Columbia, Vancouver, BC, Canada

[14] Queen Elizabeth Univ Hosp, Glasgow, Lanark, Scotland

[15] Western Gen Hosp, Edinburgh, Midlothian, Scotland

[16] Hop SUD, Rennes, France

[17] Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England

[18] CHU Clermont Ferrand, Clermont Ferrand, France

[19] CHU Lille, Lille, France

[20] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[21] Med Univ Innsbruck, Innsbruck, Austria

[22] Leicester Royal Infirm, Leicester, Leics, England

[23] Univ Melbourne, Melbourne, Vic, Australia

[24] Hamad Bin Khalifa Univ, Doha, Qatar

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C20.2

引用

页码：99 / 100

页数：2

共 50 条

[41] Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation
Yang, Yiqing
Li, Jun
Lin, Xiaoping
Yang, Yanzong
Hong, Kui
Wang, Lei
Liu, Jinqiu
Li, Li
Yan, Dinghong
Liang, Dandan
Xiao, Junjie
Jin, Hongmei
Wu, Jie
Zhang, Yangyang
Chen, Yi-Han
JOURNAL OF HUMAN GENETICS, 2009, 54 (05) : 277 - 283
[42] NOVEL IMMUNODYSREGULATION DISORDER CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN SBNO2
Jing, Huie
Dove, Christopher
Zhang, Yu
Price, Susan
Koneti, Rao
Su, Helen C.
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 275 - 275
[43] Novel loss-of-function mutations in KV7.2, and their possible involvement in epilepsy
Szanto, Tibor
Balogh, Istvan
Panyi, Gyorgy
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, 2023, 52 (SUPPL 1): : S161 - S161
[44] Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation
Yiqing Yang
Jun Li
Xiaoping Lin
Yanzong Yang
Kui Hong
Lei Wang
Jinqiu Liu
Li Li
Dinghong Yan
Dandan Liang
Junjie Xiao
Hongmei Jin
Jie Wu
Yangyang Zhang
Yi-Han Chen
Journal of Human Genetics, 2009, 54 : 277 - 283
[45] Novel loss-of-function mutations in KV7.2, and their possible involvement in epilepsy
Szanto, Tibor
Panyi, Gyorgy
Balogh, Istvan
BIOPHYSICAL JOURNAL, 2024, 123 (03) : 443A - 443A
[46] Parkin truncating variants result in a loss-of-function phenotype
Mariana Santos
Sara Morais
Conceição Pereira
Jorge Sequeiros
Isabel Alonso
Scientific Reports, 9
[47] Loss-of-function mutations in the APX1 gene result in enhanced selenium tolerance in Arabidopsis thaliana
Jiang, Li
Chen, Ziping
Gan, Qiuchen
Ci, Lingkun
Cao, Shuying
Han, Yi
Wang, Weiyan
PLANT CELL AND ENVIRONMENT, 2016, 39 (10): : 2133 - 2144
[48] A complex retinal dystrophy-obesity phenotype is associated with compound heterozygous loss-of-function TUB gene mutations
Gupta, Priya
Schoch, Kelly
Jiang, Yong-Hui
Shashi, Vandana
Lannaccone, Alessandro
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
[49] De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Parker, Michael J.
Fryer, Alan E.
Shears, Deborah J.
Lachlan, Katherine L.
McKee, Shane A.
Magee, Alex C.
Mohammed, Shehla
Vasudevan, Pradeep C.
Park, Soo-Mi
Benoit, Valerie
Lederer, Damien
Maystadt, Isabelle
FitzPatrick, David R.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (10) : 2231 - 2237
[50] Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Le Tanno, Pauline
Folacci, Mathilde
Revilloud, Jean
Faivre, Laurence
Laurent, Gabriel
Pinson, Lucile
Amedro, Pascal
Millat, Gilles
Janin, Alexandre
Vivaudou, Michel
Roux-Buisson, Nathalie
Faure, Julien
FRONTIERS IN GENETICS, 2021, 12

← 1 2 3 4 5 →