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

[31] Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
Pingault, Veronique
Bodereau, Virginie
Baral, Viviane
Marcos, Severine
Watanabe, Yuli
Chaoui, Asma
Fouveaut, Corinne
Leroy, Chrystel
Verier-Mine, Odile
Francannet, Christine
Dupin-Deguine, Delphine
Archambeaud, Francoise
Kurtz, Francois-Joseph
Young, Jacques
Bertherat, Jerome
Marlin, Sandrine
Goossens, Michel
Hardelin, Jean-Pierre
Dode, Catherine
Bondurand, Nadege
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (05) : 707 - 724
[32] Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome
De Vita, Serena
Mulligan, Claire
McElwaine, Suzanne
Dagna-Bricarelli, Franca
Spinelli, Monica
Basso, Giuseppe
Nizetic, Dean
Groet, Jurgen
BRITISH JOURNAL OF HAEMATOLOGY, 2007, 137 (04) : 337 - 341
[33] Loss-of-function mutations in Carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss
Laupheimer, Simone
Szenker, Emmanuelle
Altunoglu, Umut
Kayserili, Hulya
Reversade, Bruno
MECHANISMS OF DEVELOPMENT, 2017, 145 : S32 - S32
[34] Two novel compound heterozygous loss-of-function mutations cause fetal IRAK-4 deficiency presenting with Pseudomonas Aeruginosa sepsis
Zhang, Fang
Wang, Zhiwei
Men, Shuai
Zhang, Jinglu
Wang, Leilei
CLINICAL IMMUNOLOGY, 2024, 265
[35] Syndrome of ichthyosis, follicular atrophoderma, and hypotrichosis is associated with loss-of-function mutations in matriptase
Alef, T.
Hennies, H-C
Kolberg, S.
Torres, S.
Hausser, I.
Metze, D.
Tuersen, U.
Lestringant, G. G.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S78 - S78
[36] Loss-of-function uORF mutations in human malignancies
Julia Schulz
Nancy Mah
Martin Neuenschwander
Tabea Kischka
Richard Ratei
Peter M. Schlag
Esmeralda Castaños-Vélez
Iduna Fichtner
Per-Ulf Tunn
Carsten Denkert
Oliver Klaas
Wolfgang E. Berdel
Jens P. von Kries
Wojciech Makalowski
Miguel A. Andrade-Navarro
Achim Leutz
Klaus Wethmar
Scientific Reports, 8
[37] GFP Loss-of-Function Mutations in Arabidopsis thaliana
Fu, Jason L.
Kanno, Tatsuo
Liang, Shih-Chieh
Matzke, Antonius J. M.
Matzke, Marjori
G3-GENES GENOMES GENETICS, 2015, 5 (09): : 1849 - 1855
[38] Further delineation of putative ACTB loss-of-function variants: A 4-patient series
Baumann, Matthias
Beaver, Erin M.
Palomares-Bralo, Maria
Santos-Simarro, Fernando
Holzer, Peter
Povysil, Gundula
Mueller, Thomas
Valovka, Taras
Janecke, Andreas R.
HUMAN MUTATION, 2020, 41 (04) : 753 - 758
[39] Parkin truncating variants result in a loss-of-function phenotype
Santos, Mariana
Morais, Sara
Pereira, Conceicao
Sequeiros, Jorge
Alonso, Isabel
SCIENTIFIC REPORTS, 2019, 9 (1)
[40] Loss-of-function uORF mutations in human malignancies
Schulz, Julia
Mah, Nancy
Neuenschwander, Martin
Kischka, Tabea
Ratei, Richard
Schlag, Peter M.
Castanos-Velez, Esmeralda
Fichtner, Iduna
Tunn, Per-Ulf
Denkert, Carsten
Klaas, Oliver
Berdel, Wolfgang E.
von Kries, Jens P.
Makalowski, Wojciech
Andrade-Navarro, Miguel A.
Leutz, Achim
Wethmar, Klaus
SCIENTIFIC REPORTS, 2018, 8

← 1 2 3 4 5 →